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Leena Peltonen

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Geographic Areas

Finland

Procedures

Chromosome Mapping

Chemicals & Drugs

Concepts & Ideas

Physiology

Disorders

Genes & Molecular Sequences

Anatomy

Chromosomes, Human, Pair 1

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Publications

TOP 3
Helle Anne; Hirsjärvi Samuli; Peltonen Leena; Hirvonen Jouni; Wiedmer Susanne K; Hyötyläinen Tuulia
Novel, dynamic on-line analytical separation system for dissolution of drugs from poly(lactic acid) nanoparticles.
Chambers John C; Zhang Weihua; Li Yun; Sehmi Joban; Wass Mark N; Zabaneh Delilah; Hoggart Clive; Bayele Henry; McCarthy Mark I; Peltonen Leena; Freimer Nelson B; Srai Surjit K; Maxwell Patrick H; Sternberg Michael J E; Ruokonen Aimo; Abecasis Gonçalo; Jarvelin Marjo-Riitta; Scott James; Elliott Paul; Kooner Jaspal S
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
Keskitalo Kaisu; Broms Ulla; Heliövaara Markku; Ripatti Samuli; Surakka Ida; Perola Markus; Pitkäniemi Janne; Peltonen Leena; Aromaa Arpo; Kaprio Jaakko
Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15.

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All Publications

2010: Helle Anne; Hirsjärvi Samuli; Peltonen Leena; Hirvonen Jouni; Wiedmer Susanne K; Hyötyläinen Tuulia
Novel, dynamic on-line analytical separation system for dissolution of drugs from poly(lactic acid) nanoparticles.
Journal of pharmaceutical and biomedical analysis 2010;51(1):125-30.
2009: Chambers John C; Zhang Weihua; Li Yun; Sehmi Joban; Wass Mark N; Zabaneh Delilah; Hoggart Clive; Bayele Henry; McCarthy Mark I; Peltonen Leena; Freimer Nelson B; Srai Surjit K; Maxwell Patrick H; Sternberg Michael J E; Ruokonen Aimo; Abecasis Gonçalo; Jarvelin Marjo-Riitta; Scott James; Elliott Paul; Kooner Jaspal S
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
Nature genetics 2009;41(11):1170-2.
2009: Keskitalo Kaisu; Broms Ulla; Heliövaara Markku; Ripatti Samuli; Surakka Ida; Perola Markus; Pitkäniemi Janne; Peltonen Leena; Aromaa Arpo; Kaprio Jaakko
Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15.
Human molecular genetics 2009;18(20):4007-12.
2009: Pergadia Michele L; Agrawal Arpana; Loukola Anu; Montgomery Grant W; Broms Ulla; Saccone Scott F; Wang Jen C; Todorov Alexandre A; Heikkilä Kauko; Statham Dixie J; Henders Anjali K; Campbell Megan J; Rice John P; Todd Richard D; Heath Andrew C; Goate Alison M; Peltonen Leena; Kaprio Jaakko; Martin Nicholas G; Madden Pamela A F
Genetic linkage findings for DSM-IV nicotine withdrawal in two populations.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(7):950-9.
2009: Nyman Emma S; Loukola Anu; Varilo Teppo; Ekelund Jesper; Veijola Juha; Joukamaa Matti; Taanila Anja; Pouta Anneli; Miettunen Jouko; Freimer Nelson; Järvelin Marjo-Riitta; Peltonen Leena
Impact of the dopamine receptor gene family on temperament traits in a population-based birth cohort.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):854-65.
2009: Paunio Tiina; Arajärvi Ritva; Terwilliger Joseph D; Hiekkalinna Tero; Haimi Perttu; Partonen Timo; Lönnqvist Jouko; Peltonen Leena; Varilo Teppo
Linkage analysis of schizophrenia controlling for population substructure.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):827-35.
2009: Tallila Jonna; Salonen Riitta; Kohlschmidt Nicolai; Peltonen Leena; Kestilä Marjo
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Human mutation 2009;30(8):E813-30.
2009: Kilpinen Helena; Ylisaukko-oja Tero; Rehnström Karola; Gaál Emilia; Turunen Joni A; Kempas Elli; von Wendt Lennart; Varilo Teppo; Peltonen Leena
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.
Human molecular genetics 2009;18(15):2912-21.
2009: Valo Hanna; Peltonen Leena; Vehviläinen Satu; Karjalainen Milja; Kostiainen Risto; Laaksonen Timo; Hirvonen Jouni
Electrospray encapsulation of hydrophilic and hydrophobic drugs in poly(L-lactic acid) nanoparticles.
Small (Weinheim an der Bergstrasse, Germany) 2009;5(15):1791-8.
2009: Pietiläinen Olli P H; Paunio Tiina; Loukola Anu; Tuulio-Henriksson Annamari; Kieseppä Tuula; Thompson Paul; Toga Arthur W; van Erp Theo G M; Silventoinen Karri; Soronen Pia; Hennah William; Turunen Joni A; Wedenoja Juho; Palo Outi M; Silander Kaisa; Lönnqvist Jouko; Kaprio Jaakko; Cannon Tyrone D; Peltonen Leena
Association of AKT1 with verbal learning, verbal memory, and regional cortical gray matter density in twins.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(5):683-92.
2009: Rehnström Karola; Ylisaukko-oja Tero; Nummela Ilona; Ellonen Pekka; Kempas Elli; Vanhala Raija; von Wendt Lennart; Järvelä Irma; Peltonen Leena
Allelic variants in HTR3C show association with autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(5):741-6.
2009: Lebreton Maël; Barnes Anna; Miettunen Jouko; Peltonen Leena; Ridler Khanum; Veijola Juha; Tanskanen Päivikki; Suckling John; Jarvelin Marjo-Riitta; Jones Peter B; Isohanni Matti; Bullmore Edward T; Murray Graham K
The brain structural disposition to social interaction.
The European journal of neuroscience 2009;29(11):2247-52.
2009: Tomppo Liisa; Hennah William; Lahermo Päivi; Loukola Anu; Tuulio-Henriksson Annamari; Suvisaari Jaana; Partonen Timo; Ekelund Jesper; Lönnqvist Jouko; Peltonen Leena
Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses.
Biological psychiatry 2009;65(12):1055-62.
2009: Kemppinen Anu; Suvela Minna; Tienari Pentti J; Elovaara Irina; Koivisto Keijo; Pirttilä Tuula; Reunanen Mauri; Rautakorpi Ilkka; Hillert Jan; Lundmark Frida; Oturai Annette; Ryder Lars; Harbo Hanne F; Celius Elisabeth G; Palotie Aarno; Daly Mark; Peltonen Leena; Saarela Janna
MYO9B polymorphisms in multiple sclerosis.
European journal of human genetics : EJHG 2009;17(6):840-3.
2009: McEvoy Brian P; Montgomery Grant W; McRae Allan F; Ripatti Samuli; Perola Markus; Spector Tim D; Cherkas Lynn; Ahmadi Kourosh R; Boomsma Dorret; Willemsen Gonneke; Hottenga Jouke J; Pedersen Nancy L; Magnusson Patrik K E; Kyvik Kirsten Ohm; Christensen Kaare; Kaprio Jaakko; Heikkilä Kauko; Palotie Aarno; Widen Elisabeth; Muilu Juha; Syvänen Ann-Christine; Liljedahl Ulrika; Hardiman Orla; Cronin Simon; Peltonen Leena; Martin Nicholas G; Visscher Peter M
Geographical structure and differential natural selection among North European populations.
Genome research 2009;19(5):804-14.
2009: Kallio Suvi P; Jakkula Eveliina; Purcell Shaun; Suvela Minna; Koivisto Keijo; Tienari Pentti J; Elovaara Irina; Pirttilä Tuula; Reunanen Mauri; Bronnikov Denis; Viander Markku; Meri Seppo; Hillert Jan; Lundmark Frida; Harbo Hanne F; Lorentzen Aslaug R; De Jager Philip L; Daly Mark J; Hafler David A; Palotie Aarno; Peltonen Leena; Saarela Janna
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
Human molecular genetics 2009;18(9):1670-83.
2009: Marjamaa A; Newton-Cheh C; Porthan K; Reunanen A; Lahermo P; Väänänen H; Jula A; Karanko H; Swan H; Toivonen L; Nieminen M S; Viitasalo M; Peltonen L; Oikarinen L; Palotie A; Kontula K; Salomaa V
Common candidate gene variants are associated with QT interval duration in the general population.
Journal of internal medicine 2009;265(4):448-58.
2009: Karvanen Juha; Silander Kaisa; Kee Frank; Tiret Laurence; Salomaa Veikko; Kuulasmaa Kari; Wiklund Per-Gunnar; Virtamo Jarmo; Saarela Olli; Perret Claire; Perola Markus; Peltonen Leena; Cambien Francois; Erdmann Jeanette; Samani Nilesh J; Schunkert Heribert; Evans Alun;
The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts.
Genetic epidemiology 2009;33(3):237-46.
2009: Sovio Ulla; Bennett Amanda J; Millwood Iona Y; Molitor John; O'Reilly Paul F; Timpson Nicholas J; Kaakinen Marika; Laitinen Jaana; Haukka Jari; Pillas Demetris; Tzoulaki Ioanna; Molitor Jassy; Hoggart Clive; Coin Lachlan J M; Whittaker John; Pouta Anneli; Hartikainen Anna-Liisa; Freimer Nelson B; Widen Elisabeth; Peltonen Leena; Elliott Paul; McCarthy Mark I; Jarvelin Marjo-Riitta
Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.
PLoS genetics 2009;5(3):e1000409.
2009: Lehto Paula; Aaltonen Jaakko; Tenho Mikko; Rantanen Jukka; Hirvonen Jouni; Tanninen Veli Pekka; Peltonen Leena
Solvent-mediated solid phase transformations of carbamazepine: Effects of simulated intestinal fluid and fasted state simulated intestinal fluid.
Journal of pharmaceutical sciences 2009;98(3):985-96.
2009: Tomppo Liisa; Hennah William; Miettunen Jouko; Järvelin Marjo-Riitta; Veijola Juha; Ripatti Samuli; Lahermo Päivi; Lichtermann Dirk; Peltonen Leena; Ekelund Jesper
Association of variants in DISC1 with psychosis-related traits in a large population cohort.
Archives of general psychiatry 2009;66(2):134-41.
2009: Sammalisto Sampo; Hiekkalinna Tero; Schwander Karen; Kardia Sharon; Weder Alan B; Rodriguez Beatriz L; Doria Alessandro; Kelly Jennifer A; Bruner Gail R; Harley John B; Redline Susan; Larkin Emma K; Patel Sanjay R; Ewan Amy J H; Weber James L; Perola Markus; Peltonen Leena
Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects.
European journal of human genetics : EJHG 2009;17(2):258-66.
2009: Benyamin Beben; McRae Allan F; Zhu Gu; Gordon Scott; Henders Anjali K; Palotie Aarno; Peltonen Leena; Martin Nicholas G; Montgomery Grant W; Whitfield John B; Visscher Peter M
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
American journal of human genetics 2009;84(1):60-5.
2009: Sabatti Chiara; Service Susan K; Hartikainen Anna-Liisa; Pouta Anneli; Ripatti Samuli; Brodsky Jae; Jones Chris G; Zaitlen Noah A; Varilo Teppo; Kaakinen Marika; Sovio Ulla; Ruokonen Aimo; Laitinen Jaana; Jakkula Eveliina; Coin Lachlan; Hoggart Clive; Collins Andrew; Turunen Hannu; Gabriel Stacey; Elliot Paul; McCarthy Mark I; Daly Mark J; Järvelin Marjo-Riitta; Freimer Nelson B; Peltonen Leena
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
Nature genetics 2009;41(1):35-46.
2009: Sulonen Anna-Maija; Kallio Suvi P; Ellonen Pekka; Suvela Minna; Elovaara Irina; Koivisto Keijo; Pirttilä Tuula; Reunanen Mauri; Tienari Pentti J; Palotie Aarno; Peltonen Leena; Saarela Janna
No evidence for shared etiology in two demyelinative disorders, MS and PLOSL.
Journal of neuroimmunology 2009;206(1-2):86-90.
2009: Silander Kaisa; Tang Hua; Myles Sean; Jakkula Eveliina; Timpson Nicholas J; Cavalli-Sforza Luigi; Peltonen Leena
Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease.
Genome medicine 2009;1(5):51.
2009: Hirsjärvi Samuli; Peltonen Leena; Hirvonen Jouni
Effect of sugars, surfactant, and tangential flow filtration on the freeze-drying of poly(lactic acid) nanoparticles.
AAPS PharmSciTech 2009;10(2):488-94.
2009: Marjamaa Annukka; Salomaa Veikko; Newton-Cheh Christopher; Porthan Kimmo; Reunanen Antti; Karanko Hannu; Jula Antti; Lahermo Päivi; Väänänen Heikki; Toivonen Lauri; Swan Heikki; Viitasalo Matti; Nieminen Markku S; Peltonen Leena; Oikarinen Lasse; Palotie Aarno; Kontula Kimmo
High prevalence of four long QT syndrome founder mutations in the Finnish population.
Annals of medicine 2009;41(3):234-40.
2008: Lu Ake T; Ogdie Matthew N; Järvelin Marjo-Ritta; Moilanen Irma K; Loo Sandra K; McCracken James T; McGough James J; Yang May H; Peltonen Leena; Nelson Stanley F; Cantor Rita M; Smalley Susan L
Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(8):1488-94.
2008: Lindh Emma; Lind Sara M; Lindmark Evelina; Hässler Signe; Perheentupa Jaakko; Peltonen Leena; Winqvist Ola; Karlsson Mikael C I
AIRE regulates T-cell-independent B-cell responses through BAFF.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(47):18466-71.
2008: Lehto Paula; Aaltonen Jaakko; Niemelä Pentti; Rantanen Jukka; Hirvonen Jouni; Tanninen Veli Pekka; Peltonen Leena
Simultaneous measurement of liquid-phase and solid-phase transformation kinetics in rotating disc and channel flow cell dissolution devices.
International journal of pharmaceutics 2008;363(1-2):66-72.
2008: Donner Jonas; Pirkola Sami; Silander Kaisa; Kananen Laura; Terwilliger Joseph D; Lönnqvist Jouko; Peltonen Leena; Hovatta Iiris
An association analysis of murine anxiety genes in humans implicates novel candidate genes for anxiety disorders.
Biological psychiatry 2008;64(8):672-80.
2008: Pöntynen Nora; Strengell Mari; Sillanpää Niko; Saharinen Juha; Ulmanen Ismo; Julkunen Ilkka; Peltonen Leena
Critical immunological pathways are downregulated in APECED patient dendritic cells.
Journal of molecular medicine (Berlin, Germany) 2008;86(10):1139-52.
2008: Palmer Christina G S; Mallery Erin; Turunen Joni A; Hsieh Hsin-Ju; Peltonen Leena; Lonnqvist Jouko; Woodward J Arthur; Sinsheimer Janet S
Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex.
Schizophrenia research 2008;104(1-3):135-45.
2008: Valli-Jaakola Kaisa; Suviolahti Elina; Schalin-Jäntti Camilla; Ripatti Samuli; Silander Kaisa; Oksanen Laura; Salomaa Veikko; Peltonen Leena; Kontula Kimmo
Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns.
Obesity (Silver Spring, Md.) 2008;16(9):2113-9.
2008: Soronen Pia; Silander Kaisa; Antila Mervi; Palo Outi M; Tuulio-Henriksson Annamari; Kieseppä Tuula; Ellonen Pekka; Wedenoja Juho; Turunen Joni A; Pietiläinen Olli P H; Hennah William; Lönnqvist Jouko; Peltonen Leena; Partonen Timo; Paunio Tiina
Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample.
Biological psychiatry 2008;64(5):438-42.
2008: Lundmark Per E; Liljedahl Ulrika; Boomsma Dorret I; Mannila Heikki; Martin Nicholas G; Palotie Aarno; Peltonen Leena; Perola Markus; Spector Tim D; Syvänen Ann-Christine
Evaluation of HapMap data in six populations of European descent.
European journal of human genetics : EJHG 2008;16(9):1142-50.
2008: Magnusson Patrik K E; Boman Marcus; de Faire Ulf; Perola Markus; Peltonen Leena; Pedersen Nancy L
Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11-13.
European journal of human genetics : EJHG 2008;16(9):1103-10.
2008: Mustelin Linda; Pietiläinen Kirsi H; Rissanen Aila; Sovijärvi Anssi R; Piirilä Päivi; Naukkarinen Jussi; Peltonen Leena; Kaprio Jaakko; Yki-Järvinen Hannele
Acquired obesity and poor physical fitness impair expression of genes of mitochondrial oxidative phosphorylation in monozygotic twins discordant for obesity.
American journal of physiology. Endocrinology and metabolism 2008;295(1):E148-54.
2008: Wedenoja J; Loukola A; Tuulio-Henriksson A; Paunio T; Ekelund J; Silander K; Varilo T; Heikkilä K; Suvisaari J; Partonen T; Lönnqvist J; Peltonen L
Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families.
Molecular psychiatry 2008;13(7):673-84.
2008: Tallila Jonna; Jakkula Eveliina; Peltonen Leena; Salonen Riitta; Kestilä Marjo
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
American journal of human genetics 2008;82(6):1361-7.
2008: Hässler S; Peltonen L; Sandler S; Winqvist O
Aire deficiency causes increased susceptibility to streptozotocin-induced murine type 1 diabetes.
Scandinavian journal of immunology 2008;67(6):569-80.
2008: Loukola A; Broms U; Maunu H; Widén E; Heikkilä K; Siivola M; Salo A; Pergadia M L; Nyman E; Sammalisto S; Perola M; Agrawal A; Heath A C; Martin N G; Madden P A F; Peltonen L; Kaprio J
Linkage of nicotine dependence and smoking behavior on 10q, 7q and 11p in twins with homogeneous genetic background.
The pharmacogenomics journal 2008;8(3):209-19.
2008: Anttila Verneri; Nyholt Dale R; Kallela Mikko; Artto Ville; Vepsäläinen Salli; Jakkula Eveliina; Wennerström Annika; Tikka-Kleemola Päivi; Kaunisto Mari A; Hämäläinen Eija; Widén Elisabeth; Terwilliger Joseph; Merikangas Kathleen; Montgomery Grant W; Martin Nicholas G; Daly Mark; Kaprio Jaakko; Peltonen Leena; Färkkilä Markus; Wessman Maija; Palotie Aarno
Consistently replicating locus linked to migraine on 10q22-q23.
American journal of human genetics 2008;82(5):1051-63.
2008: Kristiansson Kati; Ilveskoski Erkki; Lehtimäki Terho; Peltonen Leena; Perola Markus; Karhunen Pekka J
Association analysis of allelic variants of USF1 in coronary atherosclerosis.
Arteriosclerosis, thrombosis, and vascular biology 2008;28(5):983-9.
2008: Benyamin Beben; Perola Markus; Cornes Belinda K; Madden Pamela Af; Palotie Aarno; Nyholt Dale R; Montgomery Grant W; Peltonen Leena; Martin Nicholas G; Visscher Peter M
Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs.
European journal of human genetics : EJHG 2008;16(4):516-24.
2008: Pietiläinen Kirsi H; Naukkarinen Jussi; Rissanen Aila; Saharinen Juha; Ellonen Pekka; Keränen Heli; Suomalainen Anu; Götz Alexandra; Suortti Tapani; Yki-Järvinen Hannele; Oresic Matej; Kaprio Jaakko; Peltonen Leena
Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity.
PLoS medicine 2008;5(3):e51.
2008: Alimohammadi Mohammad; Björklund Peyman; Hallgren Asa; Pöntynen Nora; Szinnai Gabor; Shikama Noriko; Keller Marcel P; Ekwall Olov; Kinkel Sarah A; Husebye Eystein S; Gustafsson Jan; Rorsman Fredrik; Peltonen Leena; Betterle Corrado; Perheentupa Jaakko; Akerström Göran; Westin Gunnar; Scott Hamish S; Holländer Georg A; Kämpe Olle
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
The New England journal of medicine 2008;358(10):1018-28.
2008: Auro K; Kristiansson K; Zethelius B; Berne C; Lannfelt L; Taskinen M-R; Jauhiainen M; Perola M; Peltonen L; Syvänen A-C
USF1 gene variants contribute to metabolic traits in men in a longitudinal 32-year follow-up study.
Diabetologia 2008;51(3):464-72.
2008: Nousiainen Heidi O; Kestilä Marjo; Pakkasjärvi Niklas; Honkala Heli; Kuure Satu; Tallila Jonna; Vuopala Katri; Ignatius Jaakko; Herva Riitta; Peltonen Leena
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nature genetics 2008;40(2):155-7.
2008: Hirsjärvi S; Peltonen L; Hirvonen J
Surface pressure measurements in particle interaction and stability studies of poly(lactic acid) nanoparticles.
International journal of pharmaceutics 2008;348(1-2):153-60.
2008: Kilpinen H; Ylisaukko-Oja T; Hennah W; Palo O M; Varilo T; Vanhala R; Nieminen-von Wendt T; von Wendt L; Paunio T; Peltonen L
Association of DISC1 with autism and Asperger syndrome.
Molecular psychiatry 2008;13(2):187-96.
2008: Enattah Nabil Sabri; Jensen Tine G K; Nielsen Mette; Lewinski Rikke; Kuokkanen Mikko; Rasinpera Heli; El-Shanti Hatem; Seo Jeong Kee; Alifrangis Michael; Khalil Insaf F; Natah Abdrazak; Ali Ahmed; Natah Sirajedin; Comas David; Mehdi S Qasim; Groop Leif; Vestergaard Else Marie; Imtiaz Faiqa; Rashed Mohamed S; Meyer Brian; Troelsen Jesper; Peltonen Leena
Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.
American journal of human genetics 2008;82(1):57-72.
2008: Helle Anne; Hirsjärvi Samuli; Peltonen Leena; Hirvonen Jouni; Wiedmer Susanne K
Quantitative determination of drug encapsulation in poly(lactic acid) nanoparticles by capillary electrophoresis.
Journal of chromatography. A 2008;1178(1-2):248-55.
2008: Rehnström Karola; Ylisaukko-Oja Tero; Vanhala Raija; von Wendt Lennart; Peltonen Leena; Hovatta Iiris
No association between common variants in glyoxalase 1 and autism spectrum disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(1):124-7.
2008: Silander Kaisa; Alanne Mervi; Kristiansson Kati; Saarela Olli; Ripatti Samuli; Auro Kirsi; Karvanen Juha; Kulathinal Sangita; Niemelä Matti; Ellonen Pekka; Vartiainen Erkki; Jousilahti Pekka; Saarela Janna; Kuulasmaa Kari; Evans Alun; Perola Markus; Salomaa Veikko; Peltonen Leena
Gender differences in genetic risk profiles for cardiovascular disease.
PloS one 2008;3(10):e3615.
2008: Kristiansson Kati; Naukkarinen Jussi; Peltonen Leena
Isolated populations and complex disease gene identification.
Genome biology 2008;9(8):109.
2008: von Schantz Carina; Saharinen Juha; Kopra Outi; Cooper Jonathan D; Gentile Massimiliano; Hovatta Iiris; Peltonen Leena; Jalanko Anu
Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.
BMC genomics 2008;9():146.
2007: Nyman Emma S; Ogdie Matthew N; Loukola Anu; Varilo Teppo; Taanila Anja; Hurtig Tuula; Moilanen Irma K; Loo Sandra K; McGough James J; Järvelin Marjo-Riitta; Smalley Susan L; Nelson Stanley F; Peltonen Leena
ADHD candidate gene study in a population-based birth cohort: association with DBH and DRD2.
Journal of the American Academy of Child and Adolescent Psychiatry 2007;46(12):1614-21.
2007: Smalley Susan L; McGough James J; Moilanen Irma K; Loo Sandra K; Taanila Anja; Ebeling Hanna; Hurtig Tuula; Kaakinen Marika; Humphrey Lorie A; McCracken James T; Varilo Teppo; Yang May H; Nelson Stanley F; Peltonen Leena; Järvelin Marjo-Riitta
Prevalence and psychiatric comorbidity of attention-deficit/hyperactivity disorder in an adolescent Finnish population.
Journal of the American Academy of Child and Adolescent Psychiatry 2007;46(12):1575-83.
2007: Laaksonen Timo; Santos Hélder; Vihola Henna; Salonen Jarno; Riikonen Joakim; Heikkilä Teemu; Peltonen Leena; Kumar Narendra; Murzin Dmitry Yu; Lehto Vesa-Pekka; Hirvonen Jouni
Failure of MTT as a toxicity testing agent for mesoporous silicon microparticles.
Chemical research in toxicology 2007;20(12):1913-8.
2007: Li Weidong; Zhou Yu; Jentsch J David; Brown Robert A M; Tian Xiaoli; Ehninger Dan; Hennah William; Peltonen Leena; Lönnqvist Jouko; Huttunen Matti O; Kaprio Jaakko; Trachtenberg Joshua T; Silva Alcino J; Cannon Tyrone D
Specific developmental disruption of disrupted-in-schizophrenia-1 function results in schizophrenia-related phenotypes in mice.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(46):18280-5.
2007: Alanne Mervi; Kristiansson Kati; Auro Kirsi; Silander Kaisa; Kuulasmaa Kari; Peltonen Leena; Salomaa Veikko; Perola Markus
Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts.
Human genetics 2007;122(3-4):355-65.
2007: Palo Outi M; Antila Mervi; Silander Kaisa; Hennah William; Kilpinen Helena; Soronen Pia; Tuulio-Henriksson Annamari; Kieseppä Tuula; Partonen Timo; Lönnqvist Jouko; Peltonen Leena; Paunio Tiina
Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments.
Human molecular genetics 2007;16(20):2517-28.
2007: Enattah Nabil Sabri; Trudeau Aimee; Pimenoff Ville; Maiuri Luigi; Auricchio Salvatore; Greco Luigi; Rossi Mauro; Lentze Michael; Seo J K; Rahgozar Soheila; Khalil Insaf; Alifrangis Michael; Natah Sirajedin; Groop Leif; Shaat Nael; Kozlov Andrew; Verschubskaya Galina; Comas David; Bulayeva Kazima; Mehdi S Qasim; Terwilliger Joseph D; Sahi Timo; Savilahti Erkki; Perola Markus; Sajantila Antti; Järvelä Irma; Peltonen Leena
Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.
American journal of human genetics 2007;81(3):615-25.
2007: Kiialainen Anna; Veckman Ville; Saharinen Juha; Paloneva Juha; Gentile Massimiliano; Hakola Panu; Hemelsoet Dimitri; Ridha Basil; Kopra Outi; Julkunen Ilkka; Peltonen Leena
Transcript profiles of dendritic cells of PLOSL patients link demyelinating CNS disorders with abnormalities in pathways of actin bundling and immune response.
Journal of molecular medicine (Berlin, Germany) 2007;85(9):971-83.
2007: Knaapila Antti; Tuorila Hely; Silventoinen Karri; Keskitalo Kaisu; Kallela Mikko; Wessman Maija; Peltonen Leena; Cherkas Lynn F; Spector Tim D; Perola Markus
Food neophobia shows heritable variation in humans.
Physiology & behavior 2007;91(5):573-8.
2007: Auro Kirsi; Alanne Mervi; Kristiansson Kati; Silander Kaisa; Kuulasmaa Kari; Salomaa Veikko; Peltonen Leena; Perola Markus
Combined effects of thrombosis pathway gene variants predict cardiovascular events.
PLoS genetics 2007;3(7):e120.
2007: Enattah Nabil-Sabri; Kuokkanen Mikko; Forsblom Carol; Natah Sirajedin; Oksanen Aino; Jarvela Irma; Peltonen Leena; Savilahti Erkki
Correlation of intestinal disaccharidase activities with the C/T-13910 variant and age.
World journal of gastroenterology : WJG 2007;13(25):3508-12.
2007: Keskitalo Kaisu; Knaapila Antti; Kallela Mikko; Palotie Aarno; Wessman Maija; Sammalisto Sampo; Peltonen Leena; Tuorila Hely; Perola Markus
Sweet taste preferences are partly genetically determined: identification of a trait locus on chromosome 16.
The American journal of clinical nutrition 2007;86(1):55-63.
2007: Muilu Juha; Peltonen Leena; Litton Jan-Eric
The federated database--a basis for biobank-based post-genome studies, integrating phenome and genome data from 600,000 twin pairs in Europe.
European journal of human genetics : EJHG 2007;15(7):718-23.
2007: Perola Markus; Sammalisto Sampo; Hiekkalinna Tero; Martin Nick G; Visscher Peter M; Montgomery Grant W; Benyamin Beben; Harris Jennifer R; Boomsma Dorret; Willemsen Gonneke; Hottenga Jouke-Jan; Christensen Kaare; Kyvik Kirsten Ohm; Sørensen Thorkild I A; Pedersen Nancy L; Magnusson Patrik K E; Spector Tim D; Widen Elisabeth; Silventoinen Karri; Kaprio Jaakko; Palotie Aarno; Peltonen Leena;
Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci.
PLoS genetics 2007;3(6):e97.
2007: Soro-Paavonen Aino; Naukkarinen Jussi; Lee-Rueckert Miriam; Watanabe Hiroshi; Rantala Elina; Soderlund Sanni; Hiukka Anne; Kovanen Petri T; Jauhiainen Matti; Peltonen Leena; Taskinen Marja-Riitta
Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL.
Journal of lipid research 2007;48(6):1409-16.
2007: Knaapila Antti; Keskitalo Kaisu; Kallela Mikko; Wessman Maija; Sammalisto Sampo; Hiekkalinna Tero; Palotie Aarno; Peltonen Leena; Tuorila Hely; Perola Markus
Genetic component of identification, intensity and pleasantness of odours: a Finnish family study.
European journal of human genetics : EJHG 2007;15(5):596-602.
2007: Turunen Joni A; Peltonen Juho O; Pietiläinen Olli P H; Hennah William; Loukola Anu; Paunio Tiina; Silander Kaisa; Ekelund Jesper; Varilo Teppo; Partonen Timo; Lönnqvist Jouko; Peltonen Leena
The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland.
Schizophrenia research 2007;91(1-3):27-36.
2007: Hennah William; Tomppo Liisa; Hiekkalinna Tero; Palo Outi M; Kilpinen Helena; Ekelund Jesper; Tuulio-Henriksson Annamari; Silander Kaisa; Partonen Timo; Paunio Tiina; Terwilliger Joseph D; Lönnqvist Jouko; Peltonen Leena
Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1.
Human molecular genetics 2007;16(5):453-62.
2007: Pakkasjärvi Niklas; Kerosuo Laura; Nousiainen Heidi; Gentile Massimiliano; Saharinen Juha; Suhonen Satu; Sariola Hannu; Peltonen Leena; Kestilä Marjo; Wartiovaara Kirmo
Neural precursor cells from a fatal human motoneuron disease differentiate despite aberrant gene expression.
Developmental neurobiology 2007;67(3):270-84.
2007: Li Ker-Chau; Palotie Aarno; Yuan Shinsheng; Bronnikov Denis; Chen Daniel; Wei Xuelian; Choi Oi-Wa; Saarela Janna; Peltonen Leena
Finding disease candidate genes by liquid association.
Genome biology 2007;8(10):R205.
2007: Partonen Timo; Treutlein Jens; Alpman Asude; Frank Josef; Johansson Carolina; Depner Martin; Aron Liviu; Rietschel Marcella; Wellek Stefan; Soronen Pia; Paunio Tiina; Koch Andreas; Chen Ping; Lathrop Mark; Adolfsson Rolf; Persson Maj-Liz; Kasper Siegfried; Schalling Martin; Peltonen Leena; Schumann Gunter
Three circadian clock genes Per2, Arntl, and Npas2 contribute to winter depression.
Annals of medicine 2007;39(3):229-38.
2006: Brännström Johan; Hässler Signe; Peltonen Leena; Herrmann Björn; Winqvist Ola
Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens.
Clinical immunology (Orlando, Fla.) 2006;121(3):265-73.
2006: Aaltonen Jaakko; Heinänen Paula; Peltonen Leena; Kortejärvi Hanna; Tanninen Veli Pekka; Christiansen Leena; Hirvonen Jouni; Yliruusi Jouko; Rantanen Jukka
In situ measurement of solvent-mediated phase transformations during dissolution testing.
Journal of pharmaceutical sciences 2006;95(12):2730-7.
2006: Jalanko Anu; Tyynelä Jaana; Peltonen Leena
From genes to systems: new global strategies for the characterization of NCL biology.
Biochimica et biophysica acta 2006;1762(10):934-44.
2006: Palmer Christina G S; Hsieh Hsin-Ju; Reed Elaine F; Lonnqvist Jouko; Peltonen Leena; Woodward J Arthur; Sinsheimer Janet S
HLA-B maternal-fetal genotype matching increases risk of schizophrenia.
American journal of human genetics 2006;79(4):710-5.
2006: Hirsjärvi Samuli; Peltonen Leena; Kainu Laura; Hirvonen Jouni
Freeze-drying of low molecular weight poly(L-lactic acid) nanoparticles: effect of cryo- and lyoprotectants.
Journal of nanoscience and nanotechnology 2006;6(9-10):3110-7.
2006: Pakkasjärvi Niklas; Ritvanen Annukka; Herva Riitta; Peltonen Leena; Kestilä Marjo; Ignatius Jaakko
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.
American journal of medical genetics. Part A 2006;140A(17):1834-9.
2006: Pöntynen Nora; Miettinen Aaro; Arstila T Petteri; Kämpe Olle; Alimohammadi Mohammad; Vaarala Outi; Peltonen Leena; Ulmanen Ismo
Aire deficient mice do not develop the same profile of tissue-specific autoantibodies as APECED patients.
Journal of autoimmunity 2006;27(2):96-104.
2006: Hässler Signe; Ramsey Chris; Karlsson Mikael C; Larsson Disa; Herrmann Björn; Rozell Björn; Backheden Magnus; Peltonen Leena; Kämpe Olle; Winqvist Ola
Aire-deficient mice develop hematopoetic irregularities and marginal zone B-cell lymphoma.
Blood 2006;108(6):1941-8.
2006: Anttila V; Kallela M; Oswell G; Kaunisto M A; Nyholt D R; Hamalainen E; Havanka H; Ilmavirta M; Terwilliger J; Sobel E; Peltonen L; Kaprio J; Farkkila M; Wessman M; Palotie A
Trait components provide tools to dissect the genetic susceptibility of migraine.
American journal of human genetics 2006;79(1):85-99.
2006: Minassian S L; Palmer C G S; Turunen J A; Paunio T; Lönnqvist J; Peltonen L; Woodward J A; Sinsheimer J S
Incorporating serotypes into family based association studies using the MFG test.
Annals of human genetics 2006;70(Pt 4):541-53.
2006: Hennah William; Thomson Pippa; Peltonen Leena; Porteous David
Genes and schizophrenia: beyond schizophrenia: the role of DISC1 in major mental illness.
Schizophrenia bulletin 2006;32(3):409-16.
2006: Naukkarinen Jussi; Ehnholm Christian; Peltonen Leena
Genetics of familial combined hyperlipidemia.
Current opinion in lipidology 2006;17(3):285-90.
2006: Turunen Joni A; Wessman Maija; Forsblom Carol; Kilpikari Riika; Parkkonen Maija; Pöntynen Nora; Ilmarinen Tanja; Ulmanen Ismo; Peltonen Leena; Groop Per-Henrik
Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients.
Immunogenetics 2006;58(5-6):331-8.
2006: Komulainen Kati; Alanne Mervi; Auro Kirsi; Kilpikari Riika; Pajukanta Päivi; Saarela Janna; Ellonen Pekka; Salminen Kaisa; Kulathinal Sangita; Kuulasmaa Kari; Silander Kaisa; Salomaa Veikko; Perola Markus; Peltonen Leena
Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies.
PLoS genetics 2006;2(5):e69.
2006: Service Susan; DeYoung Joseph; Karayiorgou Maria; Roos J Louw; Pretorious Herman; Bedoya Gabriel; Ospina Jorge; Ruiz-Linares Andres; Macedo António; Palha Joana Almeida; Heutink Peter; Aulchenko Yurii; Oostra Ben; van Duijn Cornelia; Jarvelin Marjo-Riitta; Varilo Teppo; Peddle Lynette; Rahman Proton; Piras Giovanna; Monne Maria; Murray Sarah; Galver Luana; Peltonen Leena; Sabatti Chiara; Collins Andrew; Freimer Nelson
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.
Nature genetics 2006;38(5):556-60.
2006: Peltonen Leena; Perola Markus; Naukkarinen Jussi; Palotie Aarno
Lessons from studying monogenic disease for common disease.
Human molecular genetics 2006;15 Spec No 1():R67-74.
2006: Hirsjärvi Samuli; Peltonen Leena; Hirvonen Jouni
Layer-by-layer polyelectrolyte coating of low molecular weight poly(lactic acid) nanoparticles.
Colloids and surfaces. B, Biointerfaces 2006;49(1):93-9.
2006: Auro K; Komulainen K; Alanne M; Silander K; Peltonen L; Perola M; Salomaa V
Thrombomodulin gene polymorphisms and haplotypes and the risk of cardiovascular events: a prospective follow-up study.
Arteriosclerosis, thrombosis, and vascular biology 2006;26(4):942-7.
2006: Saarela Janna; Kallio Suvi P; Chen Daniel; Montpetit Alexandre; Jokiaho Anne; Choi Eva; Asselta Rosanna; Bronnikov Denis; Lincoln Matthew R; Sadovnick A Dessa; Tienari Pentti J; Koivisto Keijo; Palotie Aarno; Ebers George C; Hudson Thomas J; Peltonen Leena
PRKCA and multiple sclerosis: association in two independent populations.
PLoS genetics 2006;2(3):e42.
2006: Rehnström K; Ylisaukko-oja T; Nieminen-von Wendt T; Sarenius S; Källman T; Kempas E; von Wendt L; Peltonen L; Järvelä I
Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome.
Journal of medical genetics 2006;43(2):e6.
2006: Ramsey Chris; Hässler Signe; Marits Per; Kämpe Olle; Surh Charles D; Peltonen Leena; Winqvist Ola
Increased antigen presenting cell-mediated T cell activation in mice and patients without the autoimmune regulator.
European journal of immunology 2006;36(2):305-17.
2006: Kyttälä Mira; Tallila Jonna; Salonen Riitta; Kopra Outi; Kohlschmidt Nicolai; Paavola-Sakki Paulina; Peltonen Leena; Kestilä Marjo
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
Nature genetics 2006;38(2):155-7.
2006: Kuokkanen Mikko; Kokkonen Jorma; Enattah Nabil Sabri; Ylisaukko-Oja Tero; Komu Hanna; Varilo Teppo; Peltonen Leena; Savilahti Erkki; Jarvela Irma
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
American journal of human genetics 2006;78(2):339-44.
2006: Suviolahti Elina; Reue Karen; Cantor Rita M; Phan Jack; Gentile Massimiliano; Naukkarinen Jussi; Soro-Paavonen Aino; Oksanen Laura; Kaprio Jaakko; Rissanen Aila; Salomaa Veikko; Kontula Kimmo; Taskinen Marja-Riitta; Pajukanta Päivi; Peltonen Leena
Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism.
Human molecular genetics 2006;15(3):377-86.
2006: Ylisaukko-oja Tero; Alarcón Maricela; Cantor Rita M; Auranen Mari; Vanhala Raija; Kempas Elli; von Wendt Lennart; Järvelä Irma; Geschwind Daniel H; Peltonen Leena
Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.
Annals of neurology 2006;59(1):145-55.
2006: Trikalinos T A; Karvouni A; Zintzaras E; Ylisaukko-oja T; Peltonen L; Järvelä I; Ioannidis J P A
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders.
Molecular psychiatry 2006;11(1):29-36.
2006: Valli-Jaakola Kaisa; Palvimo Jorma J; Lipsanen-Nyman Marita; Salomaa Veikko; Peltonen Leena; Kontula Kimmo; Schalin-Jäntti Camilla
A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity.
Hormone research 2006;66(2):61-9.
2005: Ulmanen Ismo; Halonen Maria; Ilmarinen Tanja; Peltonen Leena
Monogenic autoimmune diseases - lessons of self-tolerance.
Current opinion in immunology 2005;17(6):609-15.
2005: Riise Stensland Hilde Monica F; Saarela Janna; Bronnikov Denis O; Parkkonen Maija; Jokiaho Anne J; Palotie Aarno; Tienari Pentti J; Sumelahti Marja-Liisa; Elovaara Irina; Koivisto Keijo; Pirttilä Tuula; Reunanen Mauri; Sobel Eric; Peltonen Leena
Fine mapping of the multiple sclerosis susceptibility locus on 5p14-p12.
Journal of neuroimmunology 2005;170(1-2):122-33.
2005: Pakkasjärvi Niklas; Gentile Massimiliano; Saharinen Juha; Honkanen Jarno; Herva Riitta; Peltonen Leena; Kestilä Marjo
Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.
Journal of neurobiology 2005;65(3):269-81.
2005: Hennah W; Tuulio-Henriksson A; Paunio T; Ekelund J; Varilo T; Partonen T; Cannon T D; Lönnqvist J; Peltonen L
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia.
Molecular psychiatry 2005;10(12):1097-103.
2005: Ylisaukko-oja Tero; Rehnström Karola; Auranen Mari; Vanhala Raija; Alen Reija; Kempas Elli; Ellonen Pekka; Turunen Joni A; Makkonen Ismo; Riikonen Raili; Nieminen-von Wendt Taina; von Wendt Lennart; Peltonen Leena; Järvelä Irma
Analysis of four neuroligin genes as candidates for autism.
European journal of human genetics : EJHG 2005;13(12):1285-92.
2005: Sammalisto S; Hiekkalinna T; Suviolahti E; Sood K; Metzidis A; Pajukanta P; Lilja H E; Soro-Paavonen A; Taskinen M-R; Tuomi T; Almgren P; Orho-Melander M; Groop L; Peltonen L; Perola M
A male-specific quantitative trait locus on 1p21 controlling human stature.
Journal of medical genetics 2005;42(12):932-9.
2005: Cannon Tyrone D; Hennah William; van Erp Theo G M; Thompson Paul M; Lonnqvist Jouko; Huttunen Matti; Gasperoni Timothy; Tuulio-Henriksson Annamari; Pirkola Tia; Toga Arthur W; Kaprio Jaakko; Mazziotta John; Peltonen Leena
Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory.
Archives of general psychiatry 2005;62(11):1205-13.
2005: Lincoln Matthew R; Montpetit Alexandre; Cader M Zameel; Saarela Janna; Dyment David A; Tiislar Milvi; Ferretti Vincent; Tienari Pentti J; Sadovnick A Dessa; Peltonen Leena; Ebers George C; Hudson Thomas J
A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis.
Nature genetics 2005;37(10):1108-12.
2005: Nikali Kaisu; Suomalainen Anu; Saharinen Juha; Kuokkanen Mikko; Spelbrink Johannes N; Lönnqvist Tuula; Peltonen Leena
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Human molecular genetics 2005;14(20):2981-90.
2005: Naukkarinen Jussi; Gentile Massimiliano; Soro-Paavonen Aino; Saarela Janna; Koistinen Heikki A; Pajukanta Päivi; Taskinen Marja-Riitta; Peltonen Leena
USF1 and dyslipidemias: converging evidence for a functional intronic variant.
Human molecular genetics 2005;14(17):2595-605.
2005: Silander Kaisa; Komulainen Kati; Ellonen Pekka; Jussila Minttu; Alanne Mervi; Levander Minna; Tainola Päivi; Kuulasmaa Kari; Salomaa Veikko; Perola Markus; Peltonen Leena; Saarela Janna
Evaluating whole genome amplification via multiply-primed rolling circle amplification for SNP genotyping of samples with low DNA yield.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2005;8(4):368-75.
2005: Lahti Jari; Räikkönen Katri; Ekelund Jesper; Peltonen Leena; Raitakari Olli T; Keltikangas-Järvinen Liisa
Novelty seeking: interaction between parental alcohol use and dopamine D4 receptor gene exon III polymorphism over 17 years.
Psychiatric genetics 2005;15(2):133-9.
2005: Mee Lisa; Honkala Heli; Kopra Outi; Vesa Jouni; Finnilä Saara; Visapää Ilona; Sang Tzu-Kang; Jackson George R; Salonen Riitta; Kestilä Marjo; Peltonen Leena
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Human molecular genetics 2005;14(11):1475-88.
2005: Klünemann H H; Ridha B H; Magy L; Wherrett J R; Hemelsoet D M; Keen R W; De Bleecker J L; Rossor M N; Marienhagen J; Klein H E; Peltonen L; Paloneva J
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.
Neurology 2005;64(9):1502-7.
2005: Hyvönen S; Peltonen L; Karjalainen M; Hirvonen J
Effect of nanoprecipitation on the physicochemical properties of low molecular weight poly(L-lactic acid) nanoparticles loaded with salbutamol sulphate and beclomethasone dipropionate.
International journal of pharmaceutics 2005;295(1-2):269-81.
2005: Kiialainen Anna; Hovanes Karine; Paloneva Juha; Kopra Outi; Peltonen Leena
Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS.
Neurobiology of disease 2005;18(2):314-22.
2005: Hiekkalinna Tero; Terwilliger Joseph D; Sammalisto Sampo; Peltonen Leena; Perola Markus
AUTOGSCAN: powerful tools for automated genome-wide linkage and linkage disequilibrium analysis.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2005;8(1):16-21.
2005: Jalanko Anu; Vesa Jouni; Manninen Tuula; von Schantz Carina; Minye Helena; Fabritius Anna-Liisa; Salonen Tarja; Rapola Juhani; Gentile Massimiliano; Kopra Outi; Peltonen Leena
Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
Neurobiology of disease 2005;18(1):226-41.
2005: Evans Alun; Salomaa Veikko; Kulathinal Sangita; Asplund Kjell; Cambien François; Ferrario Marco; Perola Markus; Peltonen Leena; Shields Denis; Tunstall-Pedoe Hugh; Kuulasmaa Kari;
MORGAM (an international pooling of cardiovascular cohorts).
International journal of epidemiology 2005;34(1):21-7.
2005: Ylisaukko-Oja Tero; Peyrard-Janvid Myriam; Lindgren Cecilia M; Rehnström Karola; Vanhala Raija; Peltonen Leena; Järvelä Irma; Kere Juha
Family-based association study of DYX1C1 variants in autism.
European journal of human genetics : EJHG 2005;13(1):127-30.
2004: Kopra Outi; Vesa Jouni; von Schantz Carina; Manninen Tuula; Minye Helena; Fabritius Anna-Liisa; Rapola Juhani; van Diggelen Otto P; Saarela Janna; Jalanko Anu; Peltonen Leena
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Human molecular genetics 2004;13(23):2893-906.
2004: Ekelund J; Hennah W; Hiekkalinna T; Parker A; Meyer J; Lönnqvist J; Peltonen L
Replication of 1q42 linkage in Finnish schizophrenia pedigrees.
Molecular psychiatry 2004;9(11):1037-41.
2004: Saarela Jani; von Schantz Carina; Peltonen Leena; Jalanko Anu
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
Human mutation 2004;24(4):350-1.
2004: Lilja Heidi E; Suviolahti Elina; Soro-Paavonen Aino; Hiekkalinna Tero; Day Aaron; Lange Kenneth; Sobel Eric; Taskinen Marja-Riitta; Peltonen Leena; Perola Markus; Pajukanta Päivi
Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia.
Journal of lipid research 2004;45(10):1876-84.
2004: Luoma Petri; Melberg Atle; Rinne Juha O; Kaukonen Jyrki A; Nupponen Nina N; Chalmers Richard M; Oldfors Anders; Rautakorpi Ilkka; Peltonen Leena; Majamaa Kari; Somer Hannu; Suomalainen Anu
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Lancet 2004;364(9437):875-82.
2004: Chen Daniel C; Saarela Janna; Clark Royden A; Miettinen Timo; Chi Anthony; Eichler Evan E; Peltonen Leena; Palotie Aarno
Segmental duplications flank the multiple sclerosis locus on chromosome 17q.
Genome research 2004;14(8):1483-92.
2004: Miettunen J; Kantojärvi L; Ekelund J; Veijola J; Karvonen J T; Peltonen L; Järvelin M R; Freimer N; Lichtermann D; Joukamaa M
A large population cohort provides normative data for investigation of temperament.
Acta psychiatrica Scandinavica 2004;110(2):150-7.
2004: Paunio Tiina; Tuulio-Henriksson Annamari; Hiekkalinna Tero; Perola Markus; Varilo Teppo; Partonen Timo; Cannon Tyrone D; Lönnqvist Jouko; Peltonen Leena
Search for cognitive trait components of schizophrenia reveals a locus for verbal learning and memory on 4q and for visual working memory on 2q.
Human molecular genetics 2004;13(16):1693-702.
2004: Holmberg Ville; Jalanko Anu; Isosomppi Juha; Fabritius Anna-Liisa; Peltonen Leena; Kopra Outi
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.
Neurobiology of disease 2004;16(1):29-40.
2004: Varilo Teppo; Peltonen Leena
Isolates and their potential use in complex gene mapping efforts.
Current opinion in genetics & development 2004;14(3):316-23.
2004: Pajukanta Päivi; Lilja Heidi E; Sinsheimer Janet S; Cantor Rita M; Lusis Aldons J; Gentile Massimiliano; Duan Xiaoqun Joyce; Soro-Paavonen Aino; Naukkarinen Jussi; Saarela Janna; Laakso Markku; Ehnholm Christian; Taskinen Marja-Riitta; Peltonen Leena
Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).
Nature genetics 2004;36(4):371-6.
2004: Peltonen Leena; Aitta Johanna; Hyvönen Samuli; Karjalainen Milja; Hirvonen Jouni
Improved entrapment efficiency of hydrophilic drug substance during nanoprecipitation of poly(l)lactide nanoparticles.
AAPS PharmSciTech 2004;5(1):E16.
2004: Haravuori Henna; Siitonen H Annika; Mahjneh Ibrahim; Hackman Peter; Lahti Laura; Somer Hannu; Peltonen Leena; Kestilä Marjo; Udd Bjarne
Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).
Neuromuscular disorders : NMD 2004;14(3):183-7.
2004: Aula Nina; Kopra Outi; Jalanko Anu; Peltonen Leena
Sialin expression in the CNS implicates extralysosomal function in neurons.
Neurobiology of disease 2004;15(2):251-61.
2004: Kraft Peter; Palmer Christina G S; Woodward Arthur J; Turunen Joni A; Minassian Sonia; Paunio Tiina; Lönnqvist Jouko; Peltonen Leena; Sinsheimer Janet S
RHD maternal-fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order.
European journal of human genetics : EJHG 2004;12(3):192-8.
2004: Bonetti A; Reunanen K; Finnilä S; Koivisto K; Wikström J; Sumelahti M-L; Pirttilä T; Elovaara I; Reunanen M; Saarela J; Peltonen L; Rantamäki T; Tienari P J
A two-stage study on multiple sclerosis susceptibility and chromosome 2q33.
Genes and immunity 2004;5(2):142-6.
2004: Saarela Jani; Oinonen Carita; Jalanko Anu; Rouvinen Juha; Peltonen Leena
Autoproteolytic activation of human aspartylglucosaminidase.
The Biochemical journal 2004;378(Pt 2):363-71.
2004: Keltikangas-Järvinen L; Räikkönen K; Ekelund J; Peltonen L
Nature and nurture in novelty seeking.
Molecular psychiatry 2004;9(3):308-11.
2004: Ylisaukko-oja T; Nieminen-von Wendt T; Kempas E; Sarenius S; Varilo T; von Wendt L; Peltonen L; Järvelä I
Genome-wide scan for loci of Asperger syndrome.
Molecular psychiatry 2004;9(2):161-8.
2004: Johansson Carolina; Willeit Matthäeus; Aron Liviu; Smedh Christina; Ekholm Jenny; Paunio Tiina; Kieseppä Tuula; Lichtermann Dirk; Praschak-Rieder Nicole; Neumeister Alexander; Kasper Siegfried; Peltonen Leena; Adolfsson Rolf; Partonen Timo; Schalling Martin
Seasonal affective disorder and the G-protein beta-3-subunit C825T polymorphism.
Biological psychiatry 2004;55(3):317-9.
2004: Hennah William; Varilo Teppo; Paunio Tiina; Peltonen Leena
Haplotype analysis and identification of genes for a complex trait: examples from schizophrenia.
Annals of medicine 2004;36(5):322-31.
2003: Suviolahti Elina; Oksanen Laura J; Ohman Miina; Cantor Rita M; Ridderstrale Martin; Tuomi Tiinamaija; Kaprio Jaakko; Rissanen Aila; Mustajoki Pertti; Jousilahti Pekka; Vartiainen Erkki; Silander Kaisa; Kilpikari Riika; Salomaa Veikko; Groop Leif; Kontula Kimmo; Peltonen Leena; Pajukanta Päivi
The SLC6A14 gene shows evidence of association with obesity.
The Journal of clinical investigation 2003;112(11):1762-72.
2003: Hennah William; Varilo Teppo; Kestilä Marjo; Paunio Tiina; Arajärvi Ritva; Haukka Jari; Parker Alex; Martin Rory; Levitzky Steve; Partonen Timo; Meyer Joanne; Lönnqvist Jouko; Peltonen Leena; Ekelund Jesper
Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects.
Human molecular genetics 2003;12(23):3151-9.
2003: Chen Daniel C; Saarela Janna; Nuotio Ilpo; Jokiaho Anne; Peltonen Leena; Palotie Aarno
Comparison of GenFlex Tag array and Pyrosequencing in SNP genotyping.
The Journal of molecular diagnostics : JMD 2003;5(4):243-9.
2003: Siitonen H Annika; Kopra Outi; Kääriäinen Helena; Haravuori Henna; Winter Robin M; Säämänen Anna-Marja; Peltonen Leena; Kestilä Marjo
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Human molecular genetics 2003;12(21):2837-44.
2003: Peltonen Leena;
GenomEUtwin: a strategy to identify genetic influences on health and disease.
Twin research : the official journal of the International Society for Twin Studies 2003;6(5):354-60.
2003: Auranen M; Varilo T; Alen R; Vanhala R; Ayers K; Kempas E; Ylisaukko-Oja T; Peltonen L; Järvelä I
Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland.
Molecular psychiatry 2003;8(10):879-84.
2003: Paloneva Juha; Mandelin Jami; Kiialainen Anna; Bohling Tom; Prudlo Johannes; Hakola Panu; Haltia Matti; Konttinen Yrjo T; Peltonen Leena
DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.
The Journal of experimental medicine 2003;198(4):669-75.
2003: Peltonen Leena; Liljeroth Peter; Heikkilä Tiina; Kontturi Kyösti; Hirvonen Jouni
Dissolution testing of acetylsalicylic acid by a channel flow method-correlation to USP basket and intrinsic dissolution methods.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences 2003;19(5):395-401.
2003: Ekholm Jenny M; Kieseppä Tuula; Hiekkalinna Tero; Partonen Timo; Paunio Tiina; Perola Markus; Ekelund Jesper; Lönnqvist Jouko; Pekkarinen-Ijäs Petra; Peltonen Leena
Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder.
Human molecular genetics 2003;12(15):1907-15.
2003: Mannila H; Koivisto M; Perola M; Varilo T; Hennah W; Ekelund J; Lukk M; Peltonen L; Ukkonen E
Minimum description length block finder, a method to identify haplotype blocks and to compare the strength of block boundaries.
American journal of human genetics 2003;73(1):86-94.
2003: Keltikangas-Järvinen Liisa; Elovainio Marko; Kivimäki Mika; Lichtermann Dirk; Ekelund Jesper; Peltonen Leena
Association between the type 4 dopamine receptor gene polymorphism and novelty seeking.
Psychosomatic medicine 2003;65(3):471-6.
2003: Johansson Carolina; Willeit Matthäeus; Smedh Christina; Ekholm Jenny; Paunio Tiina; Kieseppä Tuula; Lichtermann Dirk; Praschak-Rieder Nicole; Neumeister Alexander; Nilsson Lars-Göran; Kasper Siegfried; Peltonen Leena; Adolfsson Rolf; Schalling Martin; Partonen Timo
Circadian clock-related polymorphisms in seasonal affective disorder and their relevance to diurnal preference.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2003;28(4):734-9.
2003: Pajukanta Päivi; Allayee Hooman; Krass Kelly L; Kuraishy Ali; Soro Aino; Lilja Heidi E; Mar Rebecca; Taskinen Marja-Riitta; Nuotio Ilpo; Laakso Markku; Rotter Jerome I; de Bruin Tjerk W A; Cantor Rita M; Lusis Aldons J; Peltonen Leena
Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q.
American journal of human genetics 2003;72(4):903-17.
2003: Pihlaja H; Rantamäki T; Wikström J; Sumelahti M-L; Laaksonen M; Ilonen J; Ruutiainen J; Pirttilä T; Elovaara I; Reunanen M; Kuokkanen S; Peltonen L; Koivisto K; Tienari P J
Linkage disequilibrium between the MBP tetranucleotide repeat and multiple sclerosis is restricted to a geographically defined subpopulation in Finland.
Genes and immunity 2003;4(2):138-46.
2003: Gasperoni Timothy L; Ekelund Jesper; Huttunen Matti; Palmer Christina G S; Tuulio-Henriksson Annamari; Lönnqvist Jouko; Kaprio Jaakko; Peltonen Leena; Cannon Tyrone D
Genetic linkage and association between chromosome 1q and working memory function in schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003;116B(1):8-16.
2003: Varilo Teppo; Paunio Tiina; Parker Alex; Perola Markus; Meyer Joanne; Terwilliger Joseph D; Peltonen Leena
The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories.
Human molecular genetics 2003;12(1):51-9.
2003: Koivisto M; Perola M; Varilo T; Hennah W; Ekelund J; Lukk M; Peltonen L; Ukkonen E; Mannila H
An MDL method for finding haplotype blocks and for estimating the strength of haplotype block boundaries.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2003;():502-13.
2002: Ramsey Chris; Bukrinsky Alex; Peltonen Leena
Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting.
Human molecular genetics 2002;11(26):3299-308.
2002: Palmer Christina G S; Turunen Joni A; Sinsheimer Janet S; Minassian Sonia; Paunio Tiina; Lönnqvist Jouko; Peltonen Leena; Woodward J Arthur
RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility.
American journal of human genetics 2002;71(6):1312-9.
2002: Nikali Kaisu; Saharinen Juha; Peltonen Leena
cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia.
Gene 2002;299(1-2):111-5.
2002: Visapää Ilona; Fellman Vineta; Vesa Jouni; Dasvarma Ayan; Hutton Jenna L; Kumar Vijay; Payne Gregory S; Makarow Marja; Van Coster Rudy; Taylor Robert W; Turnbull Douglass M; Suomalainen Anu; Peltonen Leena
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
American journal of human genetics 2002;71(4):863-76.
2002: Auranen Mari; Vanhala Raija; Varilo Teppo; Ayers Kristin; Kempas Elli; Ylisaukko-Oja Tero; Sinsheimer Janet S; Peltonen Leena; Järvelä Irma
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.
American journal of human genetics 2002;71(4):777-90.
2002: Aula Nina; Jalanko Anu; Aula Pertti; Peltonen Leena
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.
Molecular genetics and metabolism 2002;77(1-2):99-107.
2002: Saarela Janna; Schoenberg Fejzo Marlena; Chen Daniel; Finnilä Saara; Parkkonen Maikki; Kuokkanen Satu; Sobel Eric; Tienari Pentti J; Sumelahti Marja-Liisa; Wikström Juhani; Elovaara Irina; Koivisto Keijo; Pirttilä Tuula; Reunanen Mauri; Palotie Aarno; Peltonen Leena
Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24.
Human molecular genetics 2002;11(19):2257-67.
2002: Vakkilainen Juha; Pajukanta Päivi; Cantor Rita M; Nuotio Ilpo O; Lahdenperä Sanni; Ylitalo Kati; Pihlajamäki Jussi; Kovanen Petri T; Laakso Markku; Viikari Jorma S A; Peltonen Leena; Taskinen Marja-Riitta
Genetic influences contributing to LDL particle size in familial combined hyperlipidaemia.
European journal of human genetics : EJHG 2002;10(9):547-52.
2002: Hackman Peter; Vihola Anna; Haravuori Henna; Marchand Sylvie; Sarparanta Jaakko; De Seze Jerome; Labeit Siegfried; Witt Christian; Peltonen Leena; Richard Isabelle; Udd Bjarne
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
American journal of human genetics 2002;71(3):492-500.
2002: Lilja Heidi E; Soro Aino; Ylitalo Kati; Nuotio Ilpo; Viikari Jorma S A; Salomaa Veikko; Vartiainen Erkki; Taskinen Marja-Riitta; Peltonen Leena; Pajukanta Päivi
A candidate gene study in low HDL-cholesterol families provides evidence for the involvement of the APOA2 gene and the APOA1C3A4 gene cluster.
Atherosclerosis 2002;164(1):103-11.
2002: Paloneva Juha; Manninen Tuula; Christman Grant; Hovanes Karine; Mandelin Jami; Adolfsson Rolf; Bianchin Marino; Bird Thomas; Miranda Roxana; Salmaggi Andrea; Tranebjaerg Lisbeth; Konttinen Yrjö; Peltonen Leena
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
American journal of human genetics 2002;71(3):656-62.
2002: Vesa J; Peltonen L
Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.
Current molecular medicine 2002;2(5):439-44.
2002: Vesa Jouni; Chin Mark H; Oelgeschläger Kathrin; Isosomppi Juha; DellAngelica Esteban C; Jalanko Anu; Peltonen Leena
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
Molecular biology of the cell 2002;13(7):2410-20.
2002: Halonen Maria; Eskelin Petra; Myhre Anne-Grethe; Perheentupa Jaakko; Husebye Eystein S; Kämpe Olle; Rorsman Fredrik; Peltonen Leena; Ulmanen Ismo; Partanen Jukka
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
The Journal of clinical endocrinology and metabolism 2002;87(6):2568-74.
2002: Fellman Vineta; Visapää Ilona; Vujic Mihailo; Wennerholm Ulla-Britt; Peltonen Leena
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant.
Acta obstetricia et gynecologica Scandinavica 2002;81(5):398-402.
2002: Reunanen K; Finnilä S; Laaksonen M; Sumelahti M-L; Wikström J; Pastinen T; Kuokkanen S; Saarela J; Uimari P; Ruutiainen J; Ilonen J; Peltonen L; Tienari P J
Chromosome 19q13 and multiple sclerosis susceptibility in Finland: a linkage and two-stage association study.
Journal of neuroimmunology 2002;126(1-2):134-42.
2002: Allayee Hooman; Krass Kelly L; Pajukanta Päivi; Cantor Rita M; van der Kallen Carla J H; Mar Rebecca; Rotter Jerome I; de Bruin Tjerk W A; Peltonen Leena; Lusis Aldons J
Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia.
Circulation research 2002;90(8):926-31.
2002: Visapää Ilona; Fellman Vineta; Lanyi Lisa; Peltonen Leena
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis.
American journal of medical genetics 2002;109(3):202-5.
2002: Soro Aino; Pajukanta Päivi; Lilja Heidi E; Ylitalo Kati; Hiekkalinna Tero; Perola Markus; Cantor Rita M; Viikari Jorma S A; Taskinen Marja-Riitta; Peltonen Leena
Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families.
American journal of human genetics 2002;70(5):1333-40.
2002: Isosomppi Juha; Vesa Jouni; Jalanko Anu; Peltonen Leena
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
Human molecular genetics 2002;11(8):885-91.
2002: Wessman Maija; Kallela Mikko; Kaunisto Mari A; Marttila Pia; Sobel Eric; Hartiala Jaana; Oswell Greg; Leal Suzanne M; Papp Jeanette C; Hämäläinen Eija; Broas Petra; Joslyn Geoffrey; Hovatta Iiris; Hiekkalinna Tero; Kaprio Jaakko; Ott Jürg; Cantor Rita M; Zwart John-Anker; Ilmavirta Matti; Havanka Hannele; Färkkilä Markus; Peltonen Leena; Palotie Aarno
A susceptibility locus for migraine with aura, on chromosome 4q24.
American journal of human genetics 2002;70(3):652-62.
2002: Ramsey Chris; Winqvist Ola; Puhakka Lea; Halonen Maria; Moro Aune; Kämpe Olle; Eskelin Petra; Pelto-Huikko Markku; Peltonen Leena
Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.
Human molecular genetics 2002;11(4):397-409.
2002: Enattah Nabil Sabri; Sahi Timo; Savilahti Erkki; Terwilliger Joseph D; Peltonen Leena; Järvelä Irma
Identification of a variant associated with adult-type hypolactasia.
Nature genetics 2002;30(2):233-7.
2002: Peltonen Leena; Koistinen Piritta; Karjalainen Milja; Häkkinen Antti; Hirvonen Jouni
The effect of cosolvents on the formulation of nanoparticles from low-molecular-weight poly(l)lactide.
AAPS PharmSciTech 2002;3(4):E32.
2002: Hu G; Modrek B; Riise Stensland H M F; Saarela J; Pajukanta P; Kustanovich V; Peltonen L; Nelson S F; Lee C
Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.
The pharmacogenomics journal 2002;2(4):236-42.
2002: Ekholm J M; Pekkarinen P; Pajukanta P; Kieseppä T; Partonen T; Paunio T; Varilo T; Perola M; Lönnqvist J; Peltonen L
Bipolar disorder susceptibility region on Xq24-q27.1 in Finnish families.
Molecular psychiatry 2002;7(5):453-9.
2001: Paunio T; Ekelund J; Varilo T; Parker A; Hovatta I; Turunen J A; Rinard K; Foti A; Terwilliger J D; Juvonen H; Suvisaari J; Arajärvi R; Suokas J; Partonen T; Lönnqvist J; Meyer J; Peltonen L
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q.
Human molecular genetics 2001;10(26):3037-48.
2001: Pastinen T; Perola M; Ignatius J; Sabatti C; Tainola P; Levander M; Syvänen A C; Peltonen L
Dissecting a population genome for targeted screening of disease mutations.
Human molecular genetics 2001;10(26):2961-72.
2001: Ekelund J; Hovatta I; Parker A; Paunio T; Varilo T; Martin R; Suhonen J; Ellonen P; Chan G; Sinsheimer J S; Sobel E; Juvonen H; Arajärvi R; Partonen T; Suvisaari J; Lönnqvist J; Meyer J; Peltonen L
Chromosome 1 loci in Finnish schizophrenia families.
Human molecular genetics 2001;10(15):1611-7.
2001: Perola M; Ohman M; Hiekkalinna T; Leppävuori J; Pajukanta P; Wessman M; Koskenvuo M; Palotie A; Lange K; Kaprio J; Peltonen L
Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups.
American journal of human genetics 2001;69(1):117-23.
2001: Saarela J; Laine M; Oinonen C; Schantz C; Jalanko A; Rouvinen J; Peltonen L
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
Human molecular genetics 2001;10(9):983-95.
2001: Johansson C; Smedh C; Partonen T; Pekkarinen P; Paunio T; Ekholm J; Peltonen L; Lichtermann D; Palmgren J; Adolfsson R; Schalling M
Seasonal affective disorder and serotonin-related polymorphisms.
Neurobiology of disease 2001;8(2):351-7.
2001: Haravuori H; Vihola A; Straub V; Auranen M; Richard I; Marchand S; Voit T; Labeit S; Somer H; Peltonen L; Beckmann J S; Udd B
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
Neurology 2001;56(7):869-77.
2001: Pajukanta P; Bodnar J S; Sallinen R; Chu M; Airaksinen T; Xiao Q; Castellani L W; Sheth S S; Wessman M; Palotie A; Sinsheimer J S; Demant P; Lusis A J; Peltonen L
Fine mapping of Hyplip1 and the human homolog, a potential locus for FCHL.
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(3):238-45.
2001: Auranen M; Vanhala R; Vosman M; Levander M; Varilo T; Hietala M; Riikonen R; Peltonen L; Järvelä I
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.
Neurology 2001;56(5):611-7.
2001: Peltonen L; McKusick V A
Genomics and medicine. Dissecting human disease in the postgenomic era.
Science (New York, N.Y.) 2001;291(5507):1224-9.
2001: Halonen M; Pelto-Huikko M; Eskelin P; Peltonen L; Ulmanen I; Kolmer M
Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2001;49(2):197-208.
2000: Peltonen L; Palotie A; Lange K
Use of population isolates for mapping complex traits.
Nature reviews. Genetics 2000;1(3):182-90.
2000: Pajukanta P; Cargill M; Viitanen L; Nuotio I; Kareinen A; Perola M; Terwilliger J D; Kempas E; Daly M; Lilja H; Rioux J D; Brettin T; Viikari J S; Rönnemaa T; Laakso M; Lander E S; Peltonen L
Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland.
American journal of human genetics 2000;67(6):1481-93.
2000: Perola M; Kainulainen K; Pajukanta P; Terwilliger J D; Hiekkalinna T; Ellonen P; Kaprio J; Koskenvuo M; Kontula K; Peltonen L
Genome-wide scan of predisposing loci for increased diastolic blood pressure in Finnish siblings.
Journal of hypertension 2000;18(11):1579-85.
2000: Heinonen O; Salonen T; Jalanko A; Peltonen L; Copp A
CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain.
The Journal of comparative neurology 2000;426(3):406-12.
2000: Aula N; Salomäki P; Timonen R; Verheijen F; Mancini G; Månsson J E; Aula P; Peltonen L
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
American journal of human genetics 2000;67(4):832-40.
2000: Ohman M; Oksanen L; Kaprio J; Koskenvuo M; Mustajoki P; Rissanen A; Salmi J; Kontula K; Peltonen L
Genome-wide scan of obesity in Finnish sibpairs reveals linkage to chromosome Xq24.
The Journal of clinical endocrinology and metabolism 2000;85(9):3183-90.
2000: Mustajoki S; Laine M; Lahtela M; Mustajoki P; Peltonen L; Kauppinen R
Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Molecular medicine (Cambridge, Mass.) 2000;6(8):670-9.
2000: Holmberg V; Lauronen L; Autti T; Santavuori P; Savukoski M; Uvebrant P; Hofman I; Peltonen L; Järvelä I
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
Neurology 2000;55(4):579-81.
2000: Varilo T; Laan M; Hovatta I; Wiebe V; Terwilliger J D; Peltonen L
Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo.
European journal of human genetics : EJHG 2000;8(8):604-12.
2000: Kaukonen J; Juselius J K; Tiranti V; Kyttälä A; Zeviani M; Comi G P; Keränen S; Peltonen L; Suomalainen A
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Science (New York, N.Y.) 2000;289(5480):782-5.
2000: Pastinen T; Raitio M; Lindroos K; Tainola P; Peltonen L; Syvänen A C
A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.
Genome research 2000;10(7):1031-42.
2000: Paloneva J; Kestilä M; Wu J; Salminen A; Böhling T; Ruotsalainen V; Hakola P; Bakker A B; Phillips J H; Pekkarinen P; Lanier L L; Timonen T; Peltonen L
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.
Nature genetics 2000;25(3):357-61.
2000: Peltonen L; Savukoski M; Vesa J
Genetics of the neuronal ceroid lipofuscinoses.
Current opinion in genetics & development 2000;10(3):299-305.
2000: Auranen M; Nieminen T; Majuri S; Vanhala R; Peltonen L; Järvelä I
Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families.
Molecular psychiatry 2000;5(3):320-2.
2000: Ekelund J; Lichtermann D; Hovatta I; Ellonen P; Suvisaari J; Terwilliger J D; Juvonen H; Varilo T; Arajärvi R; Kokko-Sahin M L; Lönnqvist J; Peltonen L
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22.
Human molecular genetics 2000;9(7):1049-57.
2000: Virolainen E; Wessman M; Hovatta I; Niemi K M; Ignatius J; Kere J; Peltonen L; Palotie A
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.
American journal of human genetics 2000;66(3):1132-7.
2000: Heinonen O; Kyttälä A; Lehmus E; Paunio T; Peltonen L; Jalanko A
Expression of palmitoyl protein thioesterase in neurons.
Molecular genetics and metabolism 2000;69(2):123-9.
2000: Björses P; Halonen M; Palvimo J J; Kolmer M; Aaltonen J; Ellonen P; Perheentupa J; Ulmanen I; Peltonen L
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
American journal of human genetics 2000;66(2):378-92.
2000: Salonen T; Järvelä I; Peltonen L; Jalanko A
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Human mutation 2000;15(3):273-9.
1999: Isosomppi J; Heinonen O; Hiltunen J O; Greene N D; Vesa J; Uusitalo A; Mitchison H M; Saarma M; Jalanko A; Peltonen L
Developmental expression of palmitoyl protein thioesterase in normal mice.
Brain research. Developmental brain research 1999;118(1-2):1-11.
1999: Verheijen F W; Verbeek E; Aula N; Beerens C E; Havelaar A C; Joosse M; Peltonen L; Aula P; Galjaard H; van der Spek P J; Mancini G M
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Nature genetics 1999;23(4):462-5.
1999: Hovatta I; Varilo T; Suvisaari J; Terwilliger J D; Ollikainen V; Arajärvi R; Juvonen H; Kokko-Sahin M L; Väisänen L; Mannila H; Lönnqvist J; Peltonen L
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci.
American journal of human genetics 1999;65(4):1114-24.
1999: Visapää I; Salonen R; Varilo T; Paavola P; Peltonen L
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.
American journal of human genetics 1999;65(4):1086-95.
1999: Leppävuori J; Kujala U; Kinnunen J; Kaprio J; Nissilä M; Heliövaara M; Klinger N; Partanen J; Terwilliger J D; Peltonen L
Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q.
American journal of human genetics 1999;65(4):1060-7.
1999: Kujala U M; Leppävuori J; Kaprio J; Kinnunen J; Peltonen L; Koskenvuo M
Joint-specific twin and familial aggregation of recalled physician diagnosed osteoarthritis.
Twin research : the official journal of the International Society for Twin Studies 1999;2(3):196-202.
1999: Ekelund J; Lichtermann D; Järvelin M R; Peltonen L
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample.
The American journal of psychiatry 1999;156(9):1453-5.
1999: Laine M; Richter J; Fahlman C; Rapola J; Renlund M; Peltonen L; Karlsson S; Jalanko A
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation.
Experimental hematology 1999;27(9):1467-74.
1999: Uusitalo A; Tenhunen K; Heinonen O; Hiltunen J O; Saarma M; Haltia M; Jalanko A; Peltonen L
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.
Molecular genetics and metabolism 1999;67(4):294-307.
1999: Klockars T; Holmberg V; Savukoski M; Lander E S; Peltonen L
Transcript identification on the CLN5 region on chromosome 13q22.
Human genetics 1999;105(1-2):51-6.
1999: Kangas H; Ulmanen I; Paunio T; Kwiatkowski D J; Lehtovirta M; Jalanko A; Peltonen L
Functional consequences of amyloidosis mutation for gelsolin polypeptide -- analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts.
FEBS letters 1999;454(3):233-9.
1999: Kaukonen J; Zeviani M; Comi G P; Piscaglia M G; Peltonen L; Suomalainen A
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.
American journal of human genetics 1999;65(1):256-61.
1999: Pajukanta P; Terwilliger J D; Perola M; Hiekkalinna T; Nuotio I; Ellonen P; Parkkonen M; Hartiala J; Ylitalo K; Pihlajamäki J; Porkka K; Laakso M; Viikari J; Ehnholm C; Taskinen M R; Peltonen L
Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels.
American journal of human genetics 1999;64(5):1453-63.
1999: Aouizerat B E; Allayee H; Bodnar J; Krass K L; Peltonen L; de Bruin T W; Rotter J I; Lusis A J
Novel genes for familial combined hyperlipidemia.
Current opinion in lipidology 1999;10(2):113-22.
1999: Klockars T; Savukoski M; Isosomppi J; Peltonen L
Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.
Molecular genetics and metabolism 1999;66(4):324-8.
1999: Rantamäki T; Kaitila I; Syvänen A C; Lukka M; Peltonen L
Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.
American journal of human genetics 1999;64(4):993-1001.
1999: Kainulainen K; Perola M; Terwilliger J; Kaprio J; Koskenvuo M; Syvänen A C; Vartiainen E; Peltonen L; Kontula K
Evidence for involvement of the type 1 angiotensin II receptor locus in essential hypertension.
Hypertension 1999;33(3):844-9.
1999: Paavola P; Avela K; Horelli-Kuitunen N; Bärlund M; Kallioniemi A; Idänheimo N; Kyttälä M; de la Chapelle A; Palotie A; Lehesjoki A E; Peltonen L
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.
Genome research 1999;9(3):267-76.
1999: Ohman M; Oksanen L; Kainulainen K; Jänne O A; Kaprio J; Koskenvuo M; Mustajoki P; Kontula K; Peltonen L
Testing of human homologues of murine obesity genes as candidate regions in Finnish obese sib pairs.
European journal of human genetics : EJHG 1999;7(2):117-24.
1999: Wartiovaara U; Perola M; Mikkola H; Tötterman K; Savolainen V; Penttilä A; Grant P J; Tikkanen M J; Vartiainen E; Karhunen P J; Peltonen L; Palotie A
Association of FXIII Val34Leu with decreased risk of myocardial infarction in Finnish males.
Atherosclerosis 1999;142(2):295-300.
1999: Björses P; Pelto-Huikko M; Kaukonen J; Aaltonen J; Peltonen L; Ulmanen I
Localization of the APECED protein in distinct nuclear structures.
Human molecular genetics 1999;8(2):259-66.
1999: Horelli-Kuitunen N; Aaltonen J; Yaspo M L; Eeva M; Wessman M; Peltonen L; Palotie A
Mapping ESTs by fiber-FISH.
Genome research 1999;9(1):62-71.
1999: Paavola P; Horelli-Kuitunen N; Palotie A; Peltonen L
Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene.
Genomics 1999;55(1):122-5.
1999: Peltonen L; Jalanko A; Varilo T
Molecular genetics of the Finnish disease heritage.
Human molecular genetics 1999;8(10):1913-23.
1998: Tenhunen K; Uusitalo A; Autti T; Joensuu R; Kettunen M; Kauppinen R A; Ikonen S; LaMarca M E; Haltia M; Ginns E I; Jalanko A; Peltonen L
Monitoring the CNS pathology in aspartylglucosaminuria mice.
Journal of neuropathology and experimental neurology 1998;57(12):1154-63.
1998: Pekkarinen P; Kestilä M; Paloneva J; Terwillign J; Varilo T; Järvi O; Hakola P; Peltonen L
Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.
Genomics 1998;54(2):307-15.
1998: Lönnqvist L; Reinhardt D; Sakai L; Peltonen L
Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
Human molecular genetics 1998;7(13):2039-44.
1998: Visapää I; Fellman V; Varilo T; Palotie A; Raivio K O; Peltonen L
Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.
American journal of human genetics 1998;63(5):1396-403.
1998: Peltola M; Kyttälä A; Heinonen O; Rapola J; Paunio T; Revah F; Peltonen L; Jalanko A
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
Gene therapy 1998;5(10):1314-21.
1998: Järvinen N; Mäkelä-Bengs P; Suomalainen A; Vuopala K; Herva R; Palotie A; Peltonen L
LCCS: a lethal motoneuron disease of the fetus maps to chromosome 9q34.
Annals of the New York Academy of Sciences 1998;857():260-2.
1998: Lichtermann D; Hovatta I; Terwilliger J D; Peltonen L; Lönnqvist J
Concordance for sex and the pseudoautosomal gene hypothesis revisited: no evidence of increased sex concordance in a nationwide Finnish sample of siblings with paternally derived schizophrenia.
The American journal of psychiatry 1998;155(10):1365-75.
1998: Järvelä I; Enattah N S; Kokkonen J; Varilo T; Savilahti E; Peltonen L
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.
American journal of human genetics 1998;63(4):1078-85.
1998: Kyttälä A; Heinonen O; Peltonen L; Jalanko A
Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1998;18(19):7750-6.
1998: Hovatta I; Lichtermann D; Juvonen H; Suvisaari J; Terwilliger J D; Arajärvi R; Kokko-Sahin M L; Ekelund J; Lönnqvist J; Peltonen L
Linkage analysis of putative schizophrenia gene candidate regions on chromosomes 3p, 5q, 6p, 8p, 20p and 22q in a population-based sampled Finnish family set.
Molecular psychiatry 1998;3(5):452-7.
1998: Saarela J; Laine M; Tikkanen R; Oinonen C; Jalanko A; Rouvinen J; Peltonen L
Activation and oligomerization of aspartylglucosaminidase.
The Journal of biological chemistry 1998;273(39):25320-8.
1998: Pastinen T; Perola M; Niini P; Terwilliger J; Salomaa V; Vartiainen E; Peltonen L; Syvänen A
Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population.
Human molecular genetics 1998;7(9):1453-62.
1998: Mäkelä-Bengs P; Järvinen N; Vuopala K; Suomalainen A; Ignatius J; Sipilä M; Herva R; Palotie A; Peltonen L
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.
American journal of human genetics 1998;63(2):506-16.
1998: Salonen T; Hellsten E; Horelli-Kuitunen N; Peltonen L; Jalanko A
Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA.
Genome research 1998;8(7):724-30.
1998: Savukoski M; Klockars T; Holmberg V; Santavuori P; Lander E S; Peltonen L
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
Nature genetics 1998;19(3):286-8.
1998: Udd B; Haravuori H; Kalimo H; Partanen J; Pulkkinen L; Paetau A; Peltonen L; Somer H
Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31.
Neuromuscular disorders : NMD 1998;8(5):327-32.
1998: Paunio T; Kangas H; Heinonen O; Buc-Caron M H; Robert J J; Kaasinen S; Julkunen I; Mallet J; Peltonen L
Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis.
The Journal of biological chemistry 1998;273(26):16319-24.
1998: Pajukanta P; Nuotio I; Terwilliger J D; Porkka K V; Ylitalo K; Pihlajamäki J; Suomalainen A J; Syvänen A C; Lehtimäki T; Viikari J S; Laakso M; Taskinen M R; Ehnholm C; Peltonen L
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23.
Nature genetics 1998;18(4):369-73.
1998: Kestilä M; Lenkkeri U; Männikkö M; Lamerdin J; McCready P; Putaala H; Ruotsalainen V; Morita T; Nissinen M; Herva R; Kashtan C E; Peltonen L; Holmberg C; Olsen A; Tryggvason K
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
Molecular cell 1998;1(4):575-82.
1998: Haravuori H; Mäkelä-Bengs P; Udd B; Partanen J; Pulkkinen L; Somer H; Peltonen L
Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
American journal of human genetics 1998;62(3):620-6.
1998: Pekkarinen P; Hovatta I; Hakola P; Järvi O; Kestilä M; Lenkkeri U; Adolfsson R; Holmgren G; Nylander P O; Tranebjaerg L; Terwilliger J D; Lönnqvist J; Peltonen L
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.
American journal of human genetics 1998;62(2):362-72.
1998: Jalanko A; Tenhunen K; McKinney C E; LaMarca M E; Rapola J; Autti T; Joensuu R; Manninen T; Sipilä I; Ikonen S; Riekkinen P; Ginns E I; Peltonen L
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
Human molecular genetics 1998;7(2):265-72.
1998: Tienari P J; Kuokkanen S; Pastinen T; Wikström J; Sajantila A; Sandberg-Wollheim M; Palo J; Peltonen L
Golli-MBP gene in multiple sclerosis susceptibility.
Journal of neuroimmunology 1998;81(1-2):158-67.
1998: Järvelä I; Sainio M; Rantamäki T; Olkkonen V M; Carpén O; Peltonen L; Jalanko A
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
Human molecular genetics 1998;7(1):85-90.
1998: Björses P; Aaltonen J; Horelli-Kuitunen N; Yaspo M L; Peltonen L
Gene defect behind APECED: a new clue to autoimmunity.
Human molecular genetics 1998;7(10):1547-53.
1998: Karttunen L; Ukkonen T; Kainulainen K; Syvänen A C; Peltonen L
Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.
Human mutation 1998;Suppl 1():S34-7.
1997: Peltonen L
Molecular background of the Finnish disease heritage.
Annals of medicine 1997;29(6):553-6.
1997: Kuokkanen S; Gschwend M; Rioux J D; Daly M J; Terwilliger J D; Tienari P J; Wikström J; Palo J; Stein L D; Hudson T J; Lander E S; Peltonen L
Genomewide scan of multiple sclerosis in Finnish multiplex families.
American journal of human genetics 1997;61(6):1379-87.
1997: Paavola P; Salonen R; Baumer A; Schinzel A; Boyd P A; Gould S; Meusburger H; Tenconi R; Barnicoat A; Winter R; Peltonen L
Clinical and genetic heterogeneity in Meckel syndrome.
Human genetics 1997;101(1):88-92.
1997: Mustajoki S; Kauppinen R; Mustajoki P; Suomalainen A; Peltonen L
Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Genome research 1997;7(11):1054-60.
1997: Tikkanen R; Peltola M; Oinonen C; Rouvinen J; Peltonen L
Several cooperating binding sites mediate the interaction of a lysosomal enzyme with phosphotransferase.
The EMBO journal 1997;16(22):6684-93.
1997: Wansen K; Pastinen T; Kuokkanen S; Wikström J; Palo J; Peltonen L; Tienari P J
Immune system genes in multiple sclerosis: genetic association and linkage analyses on TCR beta, IGH, IFN-gamma and IL-1ra/IL-1 beta loci.
Journal of neuroimmunology 1997;79(1):29-36.
1997: Klockars T; Isosomppi J; Laan M; Kakko N; Palotie A; Peltonen L
The visual assignment of genes by fiber-fish: BTF3 protein homologue gene (BTF3) and a novel pseudogene of human RNA helicase A (DDX9P) on 13q22.
Genomics 1997;44(3):355-7.
1997: Porkka K V; Nuotio I; Pajukanta P; Ehnholm C; Suurinkeroinen L; Syvänne M; Lehtimäki T; Lahdenkari A T; Lahdenperä S; Ylitalo K; Antikainen M; Perola M; Raitakari O T; Kovanen P; Viikari J S; Peltonen L; Taskinen M R
Phenotype expression in familial combined hyperlipidemia.
Atherosclerosis 1997;133(2):245-53.
1997: Aaltonen J; Horelli-Kuitunen N; Fan J B; Björses P; Perheentupa J; Myers R; Palotie A; Peltonen L
High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH.
Genome research 1997;7(8):820-9.
1997: Peltonen L; Uusitalo A
Rare disease genes--lessons and challenges.
Genome research 1997;7(8):765-7.
1997: Hovatta I; Terwilliger J D; Lichtermann D; Mäkikyrö T; Suvisaari J; Peltonen L; Lönnqvist J
Schizophrenia in the genetic isolate of Finland.
American journal of medical genetics 1997;74(4):353-60.
1997: Wartiovaara K; Paavola P; Suvanto P; Paulin L; Saarma M; Peltonen L; Sariola H
Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome.
Clinical dysmorphology 1997;6(3):213-7.
1997: Pastinen T; Kurg A; Metspalu A; Peltonen L; Syvänen A C
Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.
Genome research 1997;7(6):606-14.
1997: Pajukanta P; Porkka K V; Antikainen M; Taskinen M R; Perola M; Murtomäki-Repo S; Ehnholm S; Nuotio I; Suurinkeroinen L; Lahdenkari A T; Syvänen A C; Viikari J S; Ehnholm C; Peltonen L
No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(5):841-50.
1997: Suomalainen A; Majander A; Wallin M; Setälä K; Kontula K; Leinonen H; Salmi T; Paetau A; Haltia M; Valanne L; Lonnqvist J; Peltonen L; Somer H
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.
Neurology 1997;48(5):1244-53.
1997: Oksanen L; Ohman M; Heiman M; Kainulainen K; Kaprio J; Mustajoki P; Koivisto V; Koskenvuo M; Jänne O A; Peltonen L; Kontula K
Markers for the gene ob and serum leptin levels in human morbid obesity.
Human genetics 1997;99(5):559-64.
1997: Pajukanta P; Peltonen L
How to tackle genetic loci predisposing to atherosclerosis?
Current opinion in lipidology 1997;8(2):95-100.
1997: Paunio T; Kangas H; Kiuru S; Palo J; Peltonen L; Syvänen A C
Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.
FEBS letters 1997;406(1-2):49-55.
1997: Uusitalo A; Tenhunen K; Tenhunen J; Matikainen S; Peltonen L; Jalanko A
Expression and regulation of the human and mouse aspartylglucosaminidase gene.
The Journal of biological chemistry 1997;272(14):9524-30.
1997: Ylitalo K; Porkka K V; Meri S; Nuotio I; Suurinkeroinen L; Vakkilainen J; Pajukanta P; Viikari J S; Peltonen L; Ehnholm C; Taskinen M R
Serum complement and familial combined hyperlipidemia.
Atherosclerosis 1997;129(2):271-7.
1997: Männikkö M; Kestilä M; Lenkkeri U; Alakurtti H; Holmberg C; Leisti J; Salonen R; Aula P; Mustonen A; Peltonen L; Tryggvason K
Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis.
Kidney international 1997;51(3):868-72.
1997: Hellsten E; Vesa J; Jalanko A; Peltonen L
From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene.
Neuropediatrics 1997;28(1):9-11.
1997: Mikkola H; Muszbek L; Laiho E; Syrjälä M; Hämäläinen E; Haramura G; Salmi T; Peltonen L; Palotie A
Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
Blood 1997;89(4):1279-87.
1997: Nikali K; Isosomppi J; Lönnqvist T; Mao J I; Suomalainen A; Peltonen L
Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24.
Genomics 1997;39(2):185-91.
1996: Oksanen L; Mustajoki P; Kaprio J; Kainulainen K; Jänne O; Peltonen L; Kontula K
Polymorphism of the beta 3-adrenergic receptor gene in morbid obesity.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 1996;20(12):1055-61.
1996: Leppänen P; Isosomppi J; Schleutker J; Aula P; Peltonen L
A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.
Genomics 1996;37(1):62-7.
1996: Heiskanen M; Peltonen L; Palotif A
Visual mapping by high resolution FISH.
Trends in genetics : TIG 1996;12(10):379-82.
1996: Laan M; Isosomppi J; Klockars T; Peltonen L; Palotie A
Utilization of FISH in positional cloning: an example on 13q22.
Genome research 1996;6(10):1002-12.
1996: Hellsten E; Vesa J; Olkkonen V M; Jalanko A; Peltonen L
Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis.
The EMBO journal 1996;15(19):5240-5.
1996: Björses P; Aaltonen J; Vikman A; Perheentupa J; Ben-Zion G; Chiumello G; Dahl N; Heideman P; Hoorweg-Nijman J J; Mathivon L; Mullis P E; Pohl M; Ritzen M; Romeo G; Shapiro M S; Smith C S; Solyom J; Zlotogora J; Peltonen L
Genetic homogeneity of autoimmune polyglandular disease type I.
American journal of human genetics 1996;59(4):879-86.
1996: Varilo T; Nikali K; Suomalainen A; Lönnqvist T; Peltonen L
Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus.
Genome research 1996;6(9):870-5.
1996: Lönnqvist L; Karttunen L; Rantamäki T; Kielty C; Raghunath M; Peltonen L
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
Genomics 1996;36(3):468-75.
1996: Kangas H; Paunio T; Kalkkinen N; Jalanko A; Peltonen L
In vitro expression analysis shows that the secretory form of gelsolin is the sole source of amyloid in gelsolin-related amyloidosis.
Human molecular genetics 1996;5(9):1237-43.
1996: Hietala M; Aula P; Syvänen A C; Isoniemi A; Peltonen L; Palotie A
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.
Clinical chemistry 1996;42(9):1398-404.
1996: Riikonen A; Rouvinen J; Tikkanen R; Julkunen I; Peltonen L; Jalanko A
Primary folding of aspartylglucosaminidase. Significance of disulfide bridges and evidence of early multimerization.
The Journal of biological chemistry 1996;271(35):21340-4.
1996: Kuokkanen S; Sundvall M; Terwilliger J D; Tienari P J; Wikström J; Holmdahl R; Pettersson U; Peltonen L
A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2.
Nature genetics 1996;13(4):477-80.
1996: Klockars T; Savukoski M; Isosomppi J; Laan M; Järvelä I; Petrukhin K; Palotie A; Peltonen L
Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.
Genomics 1996;35(1):71-8.
1996: Arte S; Nieminen P; Pirinen S; Thesleff I; Peltonen L
Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes.
Journal of dental research 1996;75(6):1346-52.
1996: Peltola M; Tikkanen R; Peltonen L; Jalanko A
Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation.
Human molecular genetics 1996;5(6):737-43.
1996: Tikkanen R; Riikonen A; Oinonen C; Rouvinen R; Peltonen L
Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: implications for catalytic mechanism and autocatalytic activation.
The EMBO journal 1996;15(12):2954-60.
1996: Lahermo P; Sajantila A; Sistonen P; Lukka M; Aula P; Peltonen L; Savontaus M L
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.
American journal of human genetics 1996;58(6):1309-22.
1996: Karttunen L; Lönnqvist L; Godfrey M; Peltonen L; Syvänen A C
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
Genome research 1996;6(5):392-403.
1996: Kaukonen J A; Amati P; Suomalainen A; Rötig A; Piscaglia M G; Salvi F; Weissenbach J; Fratta G; Comi G; Peltonen L; Zeviani M
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
American journal of human genetics 1996;58(4):763-9.
1996: Nokelainen P; Udd B; Somer H; Peltonen L
Linkage analyses in tibial muscular dystrophy.
Human heredity 1996;46(2):98-107.
1996: Varilo T; Savukoski M; Norio R; Santavuori P; Peltonen L; Järvelä I
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.
American journal of human genetics 1996;58(3):506-12.
1996: Tikkanen R; Rouvinen J; Törrönen A; Kalkkinen N; Peltonen L
Large-scale purification and preliminary x-ray diffraction studies of human aspartylglucosaminidase.
Proteins 1996;24(2):253-8.
1996: Henriksson M; Timonen K; Mustajoki P; Pihlaja H; Tenhunen R; Peltonen L; Kauppinen R
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.
The Journal of investigative dermatology 1996;106(2):346-50.
1996: Mikkola H; Yee V C; Syrjälä M; Seitz R; Egbring R; Petrini P; Ljung R; Ingerslev J; Teller D C; Peltonen L; Palotie A
Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.
Blood 1996;87(1):141-51.
1996: Aula P; Hietala M; Niemelä P; Aro A R; Hakonen A; Peltonen L
[Attitudes toward genetic testing in Finland]
Duodecim; lääketieteellinen aikakauskirja 1996;112(2):95-102.
1995: Peltonen L; Pekkarinen P; Aaltonen J
Messages from an isolate: lessons from the Finnish gene pool.
Biological chemistry Hoppe-Seyler 1995;376(12):697-704.
1995: Oinonen C; Tikkanen R; Rouvinen J; Peltonen L
Three-dimensional structure of human lysosomal aspartylglucosaminidase.
Nature structural biology 1995;2(12):1102-8.
1995: Rantamäki T; Raghunath M; Karttunen L; Lönnqvist L; Child A; Peltonen L
Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.
Prenatal diagnosis 1995;15(12):1176-81.
1995: Mäkelä T P; Hellsten E; Vesa J; Hirvonen H; Palotie A; Peltonen L; Alitalo K
The rearranged L-myc fusion gene (RLF) encodes a Zn-15 related zinc finger protein.
Oncogene 1995;11(12):2699-704.
1995: Männikkö M; Kestailä M; Holmberg C; Norio R; Ryynänen M; Olsen A; Peltonen L; Tryggvason K
Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.
American journal of human genetics 1995;57(6):1377-83.
1995: Heiskanen M; Hellsten E; Kallioniemi O P; Mäkelä T P; Alitalo K; Peltonen L; Palotie A
Visual mapping by fiber-FISH.
Genomics 1995;30(1):31-6.
1995: Tenhunen K; Laan M; Manninen T; Palotie A; Peltonen L; Jalanko A
Molecular cloning, chromosomal assignment, and expression of the mouse aspartylglucosaminidase gene.
Genomics 1995;30(2):244-50.
1995: Schleutker J; Leppänen P; Månsson J E; Erikson A; Weissenbach J; Peltonen L; Aula P
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.
American journal of human genetics 1995;57(4):893-901.
1995: Paavola P; Salonen R; Weissenbach J; Peltonen L
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.
Nature genetics 1995;11(2):213-5.
1995: Pekkarinen P; Terwilliger J; Bredbacka P E; Lönnqvist J; Peltonen L
Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree.
Genome research 1995;5(2):105-15.
1995: Nieminen P; Arte S; Pirinen S; Peltonen L; Thesleff I
Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes.
Human genetics 1995;96(3):305-8.
1995: Laan M; Grön-Virta K; Salo A; Aula P; Peltonen L; Palotie A; Syvänen A C
Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number.
Human genetics 1995;96(3):275-80.
1995: Laan M; Kallioniemi O P; Hellsten E; Alitalo K; Peltonen L; Palotie A
Mechanically stretched chromosomes as targets for high-resolution FISH mapping.
Genome research 1995;5(1):13-20.
1995: Sainio M; Strachan T; Blomstedt G; Salonen O; Setälä K; Palotie A; Palo J; Pyykkö I; Peltonen L; Jääskeläinen J
Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree.
Neurology 1995;45(7):1314-22.
1995: Hietala M; Hakonen A; Aro A R; Niemelä P; Peltonen L; Aula P
Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.
American journal of human genetics 1995;56(6):1493-500.
1995: Sharp J; Savukoski M; Wheeler R B; Harris J; Järvelä I; Peltonen L; Gardiner M; Williams R
Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
American journal of medical genetics 1995;57(2):348-9.
1995: Enomaa N; Danos O; Peltonen L; Jalanko A
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer.
Human gene therapy 1995;6(6):723-31.
1995: Nikali K; Suomalainen A; Terwilliger J; Koskinen T; Weissenbach J; Peltonen L
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.
American journal of human genetics 1995;56(5):1088-95.
1995: Schleutker J; Laine A P; Haataja L; Renlund M; Weissenbach J; Aula P; Peltonen L
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.
Genomics 1995;27(2):286-92.
1995: Tikkanen R; Enomaa N; Riikonen A; Ikonen E; Peltonen L
Intracellular sorting of aspartylglucosaminidase: the role of N-linked oligosaccharides and evidence of Man-6-P-independent lysosomal targeting.
DNA and cell biology 1995;14(4):305-12.
1995: Riikonen A; Tikkanen R; Jalanko A; Peltonen L
Immediate interaction between the nascent subunits and two conserved amino acids Trp34 and Thr206 are needed for the catalytic activity of aspartylglucosaminidase.
The Journal of biological chemistry 1995;270(9):4903-7.
1995: Jalanko A; Manninen T; Peltonen L
Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement.
Human molecular genetics 1995;4(3):435-41.
1995: Kielty C M; Rantamäki T; Child A H; Shuttleworth C A; Peltonen L
Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.
Journal of cell science 1995;108 ( Pt 3)():1317-23.
1995: Kauppinen R; Mustajoki S; Pihlaja H; Peltonen L; Mustajoki P
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
Human molecular genetics 1995;4(2):215-22.
1995: Almqvist E; Spence N; Nichol K; Andrew S E; Vesa J; Peltonen L; Anvret M; Goto J; Kanazawa I; Goldberg Y P
Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease.
Human molecular genetics 1995;4(2):207-14.
1995: Suomalainen A; Kaukonen J; Amati P; Timonen R; Haltia M; Weissenbach J; Zeviani M; Somer H; Peltonen L
An autosomal locus predisposing to deletions of mitochondrial DNA.
Nature genetics 1995;9(2):146-51.
1995: Vuopala K; Mäkelä-Bengs P; Suomalainen A; Herva R; Leisti J; Peltonen L
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.
Journal of medical genetics 1995;32(1):36-8.
1995: Hellsten E; Vesa J; Heiskanen M; Mäkelä T P; Järvelä I; Cowell J K; Mead S; Alitalo K; Palotie A; Peltonen L
Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus.
Genomics 1995;25(2):404-12.
1995: Sharp J D; Wheeler R B; Savukoski M; Kestila M; Järvelä I E; Peltonen L; Eiberg H; Gardiner R M; Williams R
Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2)
European journal of human genetics : EJHG 1995;3(5):326-8.
1995: Isoniemi A; Hietala M; Aula P; Jalanko A; Peltonen L
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
Human mutation 1995;5(4):318-26.
1995: Paunio T; Sunada Y; Kiuru S; Makishita H; Ikeda S; Weissenbach J; Palo J; Peltonen L
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.
Human mutation 1995;6(1):60-5.
1994: Karttunen L; Raghunath M; Lönnqvist L; Peltonen L
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
American journal of human genetics 1994;55(6):1083-91.
1994: Peltola M; Chiatayat D; Peltonen L; Jalanko A
Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon.
Human molecular genetics 1994;3(12):2237-42.
1994: Paunio T; Kangas H; Kalkkinen N; Haltia M; Palo J; Peltonen L
Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment.
Human molecular genetics 1994;3(12):2223-9.
1994: Nikali K; Koskinen T; Suomalainen A; Pihko H; Peltonen L
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias.
Pediatric research 1994;36(5):607-12.
1994: Heiskanen M; Karhu R; Hellsten E; Peltonen L; Kallioniemi O P; Palotie A
High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells.
BioTechniques 1994;17(5):928-9, 932-3.
1994: Savukoski M; Kestilä M; Williams R; Järvelä I; Sharp J; Harris J; Santavuori P; Gardiner M; Peltonen L
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.
American journal of human genetics 1994;55(4):695-701.
1994: Hovatta I; Kallela M; Färkkilä M; Peltonen L
Familial migraine: exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p.
Genomics 1994;23(3):707-9.
1994: Sajantila A; Pacek P; Lukka M; Syvänen A C; Nokelainen P; Sistonen P; Peltonen L; Budowle B
A microsatellite polymorphism in the von Willebrand factor gene: comparison of allele frequencies in different population samples and evaluation for forensic medicine.
Forensic science international 1994;68(2):91-102.
1994: Aaltonen J; Björses P; Sandkuijl L; Perheentupa J; Peltonen L
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.
Nature genetics 1994;8(1):83-7.
1994: Raghunath M; Kielty C M; Kainulainen K; Child A; Peltonen L; Steinmann B
Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
The Biochemical journal 1994;302 ( Pt 3)():889-96.
1994: Mikkola H; Syrjälä M; Rasi V; Vahtera E; Hämäläinen E; Peltonen L; Palotie A
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.
Blood 1994;84(2):517-25.
1994: Haataja L; Schleutker J; Laine A P; Renlund M; Savontaus M L; Dib C; Weissenbach J; Peltonen L; Aula P
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
American journal of human genetics 1994;54(6):1042-9.
1994: Tollersrud O K; Heiskanen T; Peltonen L
Human leucocyte glycosylasparaginase is an alpha/beta-heterodimer of 19 kDa alpha-subunit and 17 and 18 kDa beta-subunit.
The Biochemical journal 1994;300 ( Pt 2)():541-4.
1994: Kestilä M; Männikkö M; Holmberg C; Gyapay G; Weissenbach J; Savolainen E R; Peltonen L; Tryggvason K
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.
American journal of human genetics 1994;54(5):757-64.
1994: Heiskanen T; Tollersrud O K; Zhao M; Peltonen L
Large-scale purification of human aspartylglucosaminidase: utilization of exceptional sodium dodecyl sulfate resistance.
Protein expression and purification 1994;5(2):205-10.
1994: Kestilä M; Männikkö M; Holmberg C; Korpela K; Savolainen E R; Peltonen L; Tryggvason K
Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type.
Kidney international 1994;45(4):986-90.
1994: Riikonen A; Ikonen E; Sormunen R; Lehto V P; Peltonen L; Jalanko A
Dissection of the molecular consequences of a double mutation causing a human lysosomal disease.
DNA and cell biology 1994;13(3):257-64.
1994: Williams R; Santavuori P; Peltonen L; Gardiner R M; Järvelä I
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
Genomics 1994;20(2):289-90.
1994: Lönnqvist L; Child A; Kainulainen K; Davidson R; Puhakka L; Peltonen L
A novel mutation of the fibrillin gene causing ectopia lentis.
Genomics 1994;19(3):573-6.
1994: Kestilä M; Männikkö M; Holmberg C; Tryggvason K; Peltonen L
Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model.
Genomics 1994;19(3):570-2.
1994: Carey N; Johnson K; Nokelainen P; Peltonen L; Savontaus M L; Juvonen V; Anvret M; Grandell U; Chotai K; Robertson E
Meiotic drive at the myotonic dystrophy locus?
Nature genetics 1994;6(2):117-8.
1994: Vesa J; Hellsten E; Barnoski B L; Emanuel B S; Billheimer J T; Mead S; Cowell J K; Strauss J F; Peltonen L
Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis.
Human molecular genetics 1994;3(2):341-6.
1994: Kainulainen K; Karttunen L; Puhakka L; Sakai L; Peltonen L
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Nature genetics 1994;6(1):64-9.
1994: Tienari P J; Terwilliger J D; Ott J; Palo J; Peltonen L
Two-locus linkage analysis in multiple sclerosis (MS).
Genomics 1994;19(2):320-5.
1994: Rantamäki T; Lönnqvist L; Karttunen L; Kainulainen K; Peltonen L
DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers.
European journal of human genetics : EJHG 1994;2(1):66-75.
1994: Hovatta I; Seppälä J; Pekkarinen P; Tanskanen A; Lönnqvist J; Peltonen L
Linkage analysis in two schizophrenic families originating from a restricted subpopulation of Finland.
Psychiatric genetics 1994;4(3):143-52.
1993: Vikkula M; Nissilä M; Hirvensalo E; Nuotio P; Palotie A; Aho K; Peltonen L
Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis.
Annals of the rheumatic diseases 1993;52(10):762-4.
1993: Halila R; Ikonen E; Tollersrud O; Syvänen A C; Enomaa N; Peltonen L
Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase.
Biochemical medicine and metabolic biology 1993;50(1):1-8.
1993: Enomaa N E; Lukinmaa P L; Ikonen E M; Waltimo J C; Palotie A; Paetau A E; Peltonen L
Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1993;41(7):981-9.
1993: Hellsten E; Vesa J; Speer M C; Mäkelä T P; Järvelä I; Alitalo K; Ott J; Peltonen L
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis.
Genomics 1993;16(3):720-5.
1993: Suomalainen A; Majander A; Pihko H; Peltonen L; Syvänen A C
Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.
Human molecular genetics 1993;2(5):525-34.
1993: Vikkula M; Ritvaniemi P; Vuorio A F; Kaitila I; Ala-Kokko L; Peltonen L
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
Genomics 1993;16(1):282-5.
1993: Nokelainen P; Shelbourne P; Shaw D; Brook J D; Harley H G; Johnson K; Somer H; Savontaus M L; Peltonen L
The DM mutation; diagnostic applications in the Finnish population.
Clinical genetics 1993;43(4):190-5.
1993: Vikkula M; Palotie A; Ritvaniemi P; Ott J; Ala-Kokko L; Sievers U; Aho K; Peltonen L
Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.
Arthritis and rheumatism 1993;36(3):401-9.
1993: Ikonen E; Julkunen I; Tollersrud O K; Kalkkinen N; Peltonen L
Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum.
The EMBO journal 1993;12(1):295-302.
1993: Hellsten E; Vesa J; Järvelä I; Mäkelä T P; Santavuori P; Peltonen L
Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics.
Journal of inherited metabolic disease 1993;16(2):335-8.
1993: Ikonen E; Syvänen A C; Peltonen L
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
Scandinavian journal of clinical and laboratory investigation. Supplementum 1993;213():19-27.
1993: Hietala M; Grön K; Syvänen A C; Peltonen L; Aula P
Prospects of carrier screening of aspartylglucosaminuria in Finland.
European journal of human genetics : EJHG 1993;1(4):296-300.
1993: Tienari P J; Wikström J; Koskimies S; Partanen J; Palo J; Peltonen L
Reappraisal of HLA in multiple sclerosis: close linkage in multiplex families.
European journal of human genetics : EJHG 1993;1(4):257-68.
1993: Aaltonen J; Komulainen J; Vikman A; Palotie A; Wadelius C; Perheentupa J; Peltonen L
Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format.
European journal of human genetics : EJHG 1993;1(2):164-71.
1993: Vesa J; Hellsten E; Mäkelä T P; Järvelä I; Airaksinen T; Santavuori P; Peltonen L
A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.
European journal of human genetics : EJHG 1993;1(2):125-32.
1992: Järvelä I; Vesa J; Santavuori P; Hellsten E; Peltonen L
Molecular genetics of neuronal ceroid lipofuscinoses.
Pediatric research 1992;32(6):645-8.
1992: Suomalainen A; Paetau A; Leinonen H; Majander A; Peltonen L; Somer H
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA.
Lancet 1992;340(8831):1319-20.
1992: Tienari P J; Wikström J; Sajantila A; Palo J; Peltonen L
Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene.
Lancet 1992;340(8826):987-91.
1992: Enomaa N; Heiskanen T; Halila R; Sormunen R; Seppälä R; Vihinen M; Peltonen L
Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts.
The Biochemical journal 1992;286 ( Pt 2)():613-8.
1992: Peltonen L; Kainulainen K
Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies.
FEBS letters 1992;307(1):116-21.
1992: Vikkula M; Metsäranta M; Syvänen A C; Ala-Kokko L; Vuorio E; Peltonen L
Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse.
The Biochemical journal 1992;285 ( Pt 1)():287-94.
1992: Suomalainen A; Majander A; Haltia M; Somer H; Lönnqvist J; Savontaus M L; Peltonen L
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.
The Journal of clinical investigation 1992;90(1):61-6.
1992: Kainulainen K; Sakai L Y; Child A; Pope F M; Puhakka L; Ryhänen L; Palotie A; Kaitila I; Peltonen L
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(13):5917-21.
1992: Ikonen E; Salo A; Somer M; Somer H; Pääkkönen L; Peltonen L
Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease.
American journal of medical genetics 1992;43(4):753-8.
1992: Peltonen L; Ikonen E; Paunio T
Applications of PCR in the diseases of genetic isolates.
Annals of medicine 1992;24(3):191-4.
1992: Mäkelä T P; Hellsten E; Vesa J; Alitalo K; Peltonen L
An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32.
Human molecular genetics 1992;1(3):217.
1992: Ikonen E; Ulmanen I; Peltonen L
Deletion of the 3'-untranslated region of aspartylglucosaminidase mRNA results in a lysosomal accumulation disease.
The Journal of biological chemistry 1992;267(13):8715-8.
1992: Ikonen E; Manninen T; Peltonen L; Syvänen A C
Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing.
PCR methods and applications 1992;1(4):234-40.
1992: Ikonen E; Ignatius J; Norio R; Palo J; Peltonen L
Huntington disease in Finland: a molecular and genealogical study.
Human genetics 1992;89(3):275-80.
1992: Paunio T; Kiuru S; Hongell V; Mustonen E; Syvänen A C; Bengström M; Palo J; Peltonen L
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.
Genomics 1992;13(1):237-9.
1992: von Koskull H; Nordström A M; Salonen R; Peltonen L
Prenatal diagnosis and carrier detection in fragile X.
American journal of medical genetics 1992;43(1-2):174-80.
1992: Sajantila A; Budowle B; Ström M; Johnsson V; Lukka M; Peltonen L; Ehnholm C
PCR amplification of alleles at the DIS80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation.
American journal of human genetics 1992;50(4):816-25.
1992: Syvänen A C; Ikonen E; Manninen T; Bengtström M; Söderlund H; Aula P; Peltonen L
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
Genomics 1992;12(3):590-5.
1992: Tienari P J; Tuomilehto-Wolf E; Tuomilehto J; Peltonen L
HLA haplotypes in type 1 (insulin-dependent) diabetes mellitus: molecular analysis of the HLA-DQ locus. The DIME Study Group.
Diabetologia 1992;35(3):254-60.
1992: Järvelä I; Santavuori P; Puhakka L; Haltia M; Peltonen L
Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p.
American journal of medical genetics 1992;42(4):546-8.
1992: Helminen P; Sajantila A; Johnsson V; Lukka M; Ehnholm C; Peltonen L
Amplification of three hypervariable DNA regions by polymerase chain reaction for paternity determinations: comparison with conventional methods and DNA fingerprinting.
Molecular and cellular probes 1992;6(1):21-6.
1992: Haataja L; Schleutker J; Renlund M; Palotie A; Peltonen L; Aula P
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.
Human genetics 1992;88(3):298-300.
1992: Sajantila A; Makkonen K; Ehnholm C; Peltonen L
DNA profiling in a genetically isolated population using three hypervariable DNA markers.
Human heredity 1992;42(6):372-9.
1992: Kauppinen R; Peltonen L; Pihlaja H; Mustajoki P
CRIM-positive mutations of acute intermittent porphyria in Finland.
Human mutation 1992;1(5):392-6.
1992: Ikonen E; Peltonen L
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
Human mutation 1992;1(5):361-5.
1991: Ikonen E; Aula P; Grön K; Tollersrud O; Halila R; Manninen T; Syvänen A C; Peltonen L
Spectrum of mutations in aspartylglucosaminuria.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(24):11222-6.
1991: Schleutker J; Haataja L; Renlund M; Puhakka L; Viitala J; Peltonen L; Aula P
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
Human genetics 1991;88(1):95-7.
1991: Rapola J; Järvelä I; Peltonen L
The neuronal ceroid lipofuscinoses: unfolding the genetic defect.
Pediatric pathology / affiliated with the International Paediatric Pathology Association 1991;11(6):799-806.
1991: Helminen P; Johnsson V; Ehnholm C; Peltonen L
Proving paternity of children with deceased fathers.
Human genetics 1991;87(6):657-60.
1991: Kainulainen K; Peltonen L
Marfan gene discovered.
Annals of medicine 1991;23(4):395-6.
1991: Sajantila A; Ström M; Budowle B; Karhunen P J; Peltonen L
The polymerase chain reaction and post-mortem forensic identity testing: application of amplified D1S80 and HLA-DQ alpha loci to the identification of fire victims.
Forensic science international 1991;51(1):23-34.
1991: Ikonen E; Enomaa N; Ulmanen I; Peltonen L
In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation.
Genomics 1991;11(1):206-11.
1991: Hiltunen T; Kiuru S; Hongell V; Heliö T; Palo J; Peltonen L
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.
American journal of human genetics 1991;49(3):522-8.
1991: Tenkanen H; Lukka M; Jauhiainen M; Metso J; Baumann M; Peltonen L; Ehnholm C
The mutation causing the common apolipoprotein A-IV polymorphism is a glutamine to histidine substitution of amino acid 360.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1991;11(4):851-6.
1991: Malinen T; Palotie A; Pakkala S; Peltonen L; Ruutu T; Jansson S E
Acceleration of chronic myeloid leukemia correlates with calcitonin gene hypermethylation.
Blood 1991;77(11):2435-40.
1991: Halila R; Baumann M; Ikonen E; Enomaa N; Peltonen L
Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure.
The Biochemical journal 1991;276 ( Pt 1)():251-6.
1991: Järvelä I; Rapola J; Peltonen L; Puhakka L; Vesa J; Ammälä P; Salonen R; Ryynänen M; Haring P; Mustonen A
DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).
Prenatal diagnosis 1991;11(5):323-8.
1991: Nokelainen P T; Alanen-Kurki L; Somer H V; Pihko S H; Peltonen L
Usefulness of chromosome 19 RFLP haplotypes in the diagnosis of myotonic dystrophy.
Muscle & nerve 1991;14(5):451-6.
1991: Ikonen E; Baumann M; Grön K; Syvänen A C; Enomaa N; Halila R; Aula P; Peltonen L
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
The EMBO journal 1991;10(1):51-8.
1991: Sajantila A; Ström M; Budowle B; Tienari P J; Ehnholm C; Peltonen L
The distribution of the HLA-DQ alpha alleles and genotypes in the Finnish population as determined by the use of DNA amplification and allele specific oligonucleotides.
International journal of legal medicine 1991;104(4):181-4.
1990: Pakkala S; Knuutila S; Helminen P; Ruutu T; Saarinen U M; Peltonen L
DNA-fingerprint changes compared to karyotypes in acute leukemia.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1990;4(12):866-70.
1990: Kainulainen K; Pulkkinen L; Savolainen A; Kaitila I; Peltonen L
Location on chromosome 15 of the gene defect causing Marfan syndrome.
The New England journal of medicine 1990;323(14):935-9.
1990: Jokiaho I; Puhakka L; Santavuori P; Manninen T; Nyman K; Peltonen L
Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
Genomics 1990;8(2):391-3.
1990: Nokelainen P; Alanen-Kurki L; Winqvist R; Falck B; Somer H; Leisti J; Johnson K; Savontaus M L; Peltonen L
Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population.
Human genetics 1990;85(5):541-5.
1990: Grön K; Aula P; Peltonen L
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.
Human genetics 1990;85(2):233-6.
1990: Kauppinen R; Peltonen L; Palotie A; Mustajoki P
RFLP analysis of three different types of acute intermittent porphyria.
Human genetics 1990;85(2):160-4.
1990: Kainulainen K; Rosenbloom J; Peltonen L
Two polymorphisms for the human elastin gene.
Nucleic acids research 1990;18(10):3114.
1990: Blanton S H; Sarfarazi M; Eiberg H; de Groote J; Farndon P A; Kilpatrick M W; Child A H; Pope F M; Peltonen L; Francomano C A
An exclusion map of Marfan syndrome.
Journal of medical genetics 1990;27(2):73-7.
1990: Kainulainen K; Savolainen A; Palotie A; Kaitila I; Rosenbloom J; Peltonen L
Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2.
Human genetics 1990;84(3):233-6.
1990: Ikonen E; Palo J; Ott J; Gusella J; Somer H; Karila L; Palotie A; Peltonen L
Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus.
American journal of human genetics 1990;46(1):5-11.
1990: Peltonen L
New views to the molecular pathology of osteoarthrosis.
Annals of medicine 1990;22(4):219-20.
1989: Baumann M; Peltonen L; Aula P; Kalkkinen N
Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides.
The Biochemical journal 1989;262(1):189-94.
1989: Vikkula M; Peltonen L
Structural analyses of the polymorphic area in type II collagen gene.
FEBS letters 1989;250(2):171-4.
1989: Elima K; Kaitila I; Mikonoja L; Elonsalo U; Peltonen L; Vuorio E
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.
Journal of medical genetics 1989;26(5):314-9.
1989: Palotie A; Väisänen P; Ott J; Ryhänen L; Elima K; Vikkula M; Cheah K; Vuorio E; Peltonen L
Predisposition to familial osteoarthrosis linked to type II collagen gene.
Lancet 1989;1(8644):924-7.
1989: Pakkala S; Helminen P; Ruutu T; Saarinen U M; Peltonen L
New molecular marker in AML: DNA-fingerprint differences between leukemic phase and remission in acute myeloid leukemia.
Leukemia research 1989;13(10):907-13.
1988: Somer H; Palotie A; Somer M; Hoikka V; Peltonen L
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.
Journal of medical genetics 1988;25(8):543-9.
1988: Helminen P; Ehnholm C; Lokki M L; Jeffreys A; Peltonen L
Application of DNA "fingerprints" to paternity determinations.
Lancet 1988;1(8585):574-6.
1988: Pakkala S; Helminen P; Saarinen U M; Alitalo R; Peltonen L
Differences in DNA-fingerprints between remission and relapse in childhood acute lymphoblastic leukemia.
Leukemia research 1988;12(9):757-62.
1987: Palo J; Somer H; Ikonen E; Karila L; Peltonen L
Low prevalence of Huntington's disease in Finland.
Lancet 1987;2(8562):805-6.
1987: Gahmberg N; Peltonen L
Efficient export of secretory proteins through a vacuolized Golgi complex.
Cell biology international reports 1987;11(7):547-55.
1985: Kuivaniemi H; Peltonen L; Kivirikko K I
Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.
American journal of human genetics 1985;37(4):798-808.

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