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Irma Järvelä

Research Profile

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Liisa Ukkola-Vuoti; Christine Blancher; Gemma Buck; Chakravarthi Kanduri; Kai Karma; Harri Lähdesmäki; Jaana Oikkonen; Pirre Raijas; Irma Järvelä
Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.
Katri Kantojärvi; Ilona Kotala; Karola Rehnström; Raija Vanhala; Lennart von Wendt; Taina Nieminen von Wendt; Tero Ylisaukko-Oja; Irma Järvelä
Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).
Liisa Ukkola-Vuoti; Jaana Oikkonen; Päivi Onkamo; Kai Karma; Pirre Raijas; Irma Järvelä
Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.

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All Publications

2013: Liisa Ukkola-Vuoti; Christine Blancher; Gemma Buck; Chakravarthi Kanduri; Kai Karma; Harri Lähdesmäki; Jaana Oikkonen; Pirre Raijas; Irma Järvelä
Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.
PloS one 2013;8(2):e56356.
2011: Katri Kantojärvi; Ilona Kotala; Karola Rehnström; Raija Vanhala; Lennart von Wendt; Taina Nieminen von Wendt; Tero Ylisaukko-Oja; Irma Järvelä
Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).
Autism research : official journal of the International Society for Autism Research 2011;4(3):228-33.
2011: Liisa Ukkola-Vuoti; Jaana Oikkonen; Päivi Onkamo; Kai Karma; Pirre Raijas; Irma Järvelä
Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.
Journal of human genetics 2011;56(4):324-9.
2011: Eva Forsman; Susanna Lemmelä; Päivi Puska; Irma Järvelä
[Current status of genome research on open-angle glaucoma in Finland].
Duodecim; lääketieteellinen aikakauskirja 2011;127(14):1426-31.
2011: A Inkeri Lokki; Irma Järvelä; Elisabeth Israelsson; Boubacar Maiga; Marita Troye-Blomberg; Amagana Dolo; Ogobara K Doumbo; Seppo Meri; V Holmberg
Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.
Malaria journal 2011;10():9.
2010: Richard Holt; Gabrielle Barnby; Elena Maestrini; Elena Bacchelli; Denise Brocklebank; Inês Sousa; Erik J Mulder; Katri Kantojärvi; Irma Järvelä; Sabine M Klauck; Fritz Poustka; Anthony J Bailey; Anthony P Monaco
Linkage and candidate gene studies of autism spectrum disorders in European populations.
European journal of human genetics : EJHG 2010;18(9):1013-9.
2010: Katri Kantojärvi; Päivi Onkamo; Raija Vanhala; Reija Alen; Minttu Hedman; Antti Sajantila; Taina Nieminen-von Wendt; Irma Järvelä
Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.
Psychiatric genetics 2010;20(3):102-8.
2010: Sanna Seitsonen; Päivi Onkamo; Suvi Torniainen; Milla Ihalainen; Ilkka Immonen; Seppo Meri; Irma Järvelä
Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD).
Molecular immunology 2010;47(6):1334-6.
2009: Karola Rehnström; Tero Ylisaukko-Oja; Ilona Nummela; Pekka Ellonen; Elli Kempas; Raija Vanhala; Lennart von Wendt; Irma Järvelä; Leena Peltonen
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: Susanna Lemmelä; Eva Forsman; Päivi Onkamo; Hanna Nurmi; Hannele Laivuori; Tero Kivelä; Päivi Puska; Martin Heger; Aldur Eriksson; Henrik Forsius; Irma Järvelä
Association of LOXL1 gene with Finnish exfoliation syndrome patients.
Journal of human genetics 2009;54(5):289-97.
2009: Sanna Seitsonen; Päivi Onkamo; Ilkka Immonen; Irma Järvelä
[Identification of susceptibility genes for age-related macular degeneration--a success story of molecular genetics].
Duodecim; lääketieteellinen aikakauskirja 2009;125(21):2360-4.
2009: Irma Järvelä; Suvi Torniainen; Kaija-Leena Kolho
Molecular genetics of human lactase deficiencies.
Annals of medicine 2009;41(8):568-75.
2009: Liisa T Ukkola; Päivi Onkamo; Pirre Raijas; Kai Karma; Irma Järvelä
Musical aptitude is associated with AVPR1A-haplotypes.
PloS one 2009;4(5):e5534.
2009: Suvi Torniainen; Roberta Freddara; Taina Routi; Carolien Gijsbers; Carlo Catassi; Pia Höglund; Erkki Savilahti; Irma Järvelä
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).
BMC gastroenterology 2009;9():8.
2008: Sanna Seitsonen; Irma Järvelä; Seppo Meri; Petri Tommila; Päivi Ranta; Ilkka Immonen
Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degeneration lesions.
Acta ophthalmologica 2008;86(4):390-4.
2008: Sanna P Seitsonen; Päivi Onkamo; Gang Peng; Momiao Xiong; Petri Tommila; Päivi Ranta; Juha M Holopainen; Jukka A O Moilanen; Tapani Palosaari; Kai Kaarniranta; Seppo Meri; Ilkka R Immonen; Irma Järvelä
Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration.
PloS one 2008;3(12):e3833.
2008: Vineta Fellman; Susanna Lemmelä; Antti Sajantila; Helena Pihko; Irma Järvelä
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.
Journal of human genetics 2008;53(6):554-8.
2007: Claudio Toma; M Rossi; I Sousa; Francesca Blasi; Elena Bacchelli; Reija Alen; Raija Vanhala; Anthony P Monaco; Irma Järvelä; Elena Maestrini
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations.
Molecular psychiatry 2007;12(11):977-9.
2007: Maarit Peippo; Anne M Koivisto; Teppo Särkämö; Marjatta Sipponen; Harriet von Koskull; Tero Ylisaukko-Oja; Karola Rehnström; Guy Froyen; Jaakko Ignatius; Irma Järvelä
PAK3 related mental disability: further characterization of the phenotype.
American journal of medical genetics. Part A 2007;143A(20):2406-16.
2007: Susanna Lemmelä; Eva Forsman; Pertti Sistonen; Aldur Eriksson; Henrik Forsius; Irma Järvelä
Genome-wide scan of exfoliation syndrome.
Investigative ophthalmology & visual science 2007;48(9):4136-42.
2007: Nabil Sabri Enattah; Aimee Trudeau; Ville Pimenoff; Luigi Maiuri; Salvatore Auricchio; Luigi Greco; Mauro Rossi; Michael Lentze; J K Seo; Soheila Rahgozar; Insaf F Khalil; Michael Alifrangis; Sirajedin Natah; Leif Groop; Nael Shaat; Andrew Kozlov; Galina Verschubskaya; David Comas; Kazima B Bulayeva; S Qasim Mehdi; Joseph D Terwilliger; Timo Sahi; Erkki Savilahti; Markus Perola; Antti Sajantila; Irma Järvelä; Leena Peltonen
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: A M Koivisto; Sirpa Ala-Mello; Susanna Lemmelä; H A Komu; Jorma Rautio; Irma Järvelä
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.
Clinical genetics 2007;72(2):145-9.
2007: Eva Forsman; Rita M Cantor; Ake Lu; Aldur Eriksson; Johan Fellman; Irma Järvelä; Henrik Forsius
Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population.
Acta ophthalmologica Scandinavica 2007;85(5):500-7.
2007: Suvi Torniainen; Maria Hedelin; Ville Autio; Heli Rasinperä; Katarina Augustsson Bälter; Asa Klint; Rino Bellocco; Fredrik Wiklund; Pär Stattin; Tarja Ikonen; Teuvo L J Tammela; Johanna Schleutker; Henrik Grönberg; Irma Järvelä
Lactase persistence, dietary intake of milk, and the risk for prostate cancer in Sweden and Finland.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007;16(5):956-61.
2007: Matti Laine; Hanna Jarva; Sanna Seitsonen; Karita Haapasalo; Markus J Lehtinen; Nina Lindeman; Don H Anderson; Patrick T Johnson; Irma Järvelä; T. Sakari Jokiranta; Gregory S Hageman; Ilkka Immonen; Seppo Meri
Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein.
Journal of immunology (Baltimore, Md. : 1950) 2007;178(6):3831-6.
2007: Sari R Anthoni; Heli Rasinperä; Antti J Kotamies; Hanna A Komu; Harri Pihlajamäki; Kaija-Leena Kolho; Irma Järvelä
Molecularly defined adult-type hypolactasia among working age people with reference to milk consumption and gastrointestinal symptoms.
World journal of gastroenterology : WJG 2007;13(8):1230-5.
2006: Mikko Kuokkanen; M Myllyniemi; Matti Vauhkonen; Timo Helske; I Kääriäinen; S Karesvuori; Auli Linnala; Matti Härkönen; Irma Järvelä; P Sipponen
A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy.
Endoscopy 2006;38(7):708-12.
2006: Karola Rehnström; Tero Ylisaukko-Oja; Taina Nieminen-von Wendt; Susan Sarenius; T Källman; Elli Kempas; Lennart von Wendt; Leena Peltonen; Irma Järvelä
Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome.
Journal of medical genetics 2006;43(2):e6.
2006: Sanna Seitsonen; Susanna Lemmelä; Juha M Holopainen; Petri Tommila; Päivi Ranta; Antti Kotamies; Jukka A O Moilanen; Tapani Palosaari; Kai Kaarniranta; Seppo Meri; Ilkka Immonen; Irma Järvelä
Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
Molecular vision 2006;12():796-801.
2006: Aino Oksanen; Susanna M Lemmelä; Irma Järvelä; Hilpi Rautelin
Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis.
Annals of medicine 2006;38(4):287-93.
2006: Tero Ylisaukko-Oja; Maricela Alarcón; Rita M Cantor; Mari Auranen; Raija Vanhala; Elli Kempas; Lennart von Wendt; Irma Järvelä; Daniel Geschwind; Leena Peltonen
Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.
Annals of neurology 2006;59(1):145-55.
2006: Thomas A Trikalinos; A Karvouni; Elias Zintzaras; Tero Ylisaukko-Oja; Leena Peltonen; Irma Järvelä; John Ioannidis
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders.
Molecular psychiatry 2006;11(1):29-36.
2005: Tero Ylisaukko-Oja; Karola Rehnström; Mari Auranen; Raija Vanhala; Reija Alen; Elli Kempas; Pekka Ellonen; Joni A Turunen; Ismo Makkonen; Raili Riikonen; Taina Nieminen-von Wendt; Lennart von Wendt; Leena Peltonen; Irma Järvelä
Analysis of four neuroligin genes as candidates for autism.
European journal of human genetics : EJHG 2005;13(12):1285-92.
2005: Satu Kinnunen; Sandra Bonache; Teresa Casals; Sanni Monto; Erkki Savilahti; Juha Kere; Irma Järvelä
Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2005;4(4):233-7.
2005: Heli Rasinperä; Mikko Kuokkanen; Kaija-Leena Kolho; Harry Lindahl; Nabil Sabri Enattah; Erkki Savilahti; Arto Orpana; Irma Järvelä
Transcriptional downregulation of the lactase (LCT) gene during childhood.
Gut 2005;54(11):1660-1.
2005: Mikko Kuokkanen; Ralf Butzow; Heli Rasinperä; Krzysztof Medrek; Mef Nilbert; Susanne Malander; Jan Lubinski; Irma Järvelä
Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden.
International journal of cancer. Journal international du cancer 2005;117(1):90-4.
2005: Nabil Sabri Enattah; Tuula Pekkarinen; Matti J Välimäki; Eliisa Löyttyniemi; Irma Järvelä
Genetically defined adult-type hypolactasia and self-reported lactose intolerance as risk factors of osteoporosis in Finnish postmenopausal women.
European journal of clinical nutrition 2005;59(10):1105-11.
2005: Elise Renkonen; Pekka Nieminen; Wael M Abdel-Rahman; Anu-Liisa Moisio; Irma Järvelä; Sirpa Arte; Heikki J Järvinen; Päivi Peltomäki
Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005;23(24):5651-9.
2005: Dorota A Kwasnicka-Crawford; Andrew R Carson; Wendy Roberts; Anne M Summers; Karola Rehnström; Irma Järvelä; Stephen W Scherer
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Genomics 2005;86(2):182-94.
2005: Miina Ollikainen; Wael M Abdel-Rahman; Anu-Liisa Moisio; Annette Lindroos; Reetta Kariola; Irma Järvelä; Minna Pöyhönen; Ralf Butzow; Päivi Peltomäki
Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005;23(21):4609-16.
2005: Heli Rasinperä; Carol Forsblom; Nabil Sabri Enattah; P Halonen; K Salo; M Victorzon; Jukka-Pekka Mecklin; Heikki Järvinen; Susa Enholm; Gabrielle Sellick; Hafid Alazzouzi; richard Houlston; J Robinson; P-H Groop; Ian Tomlinson; Simó Schwartz; Lauri A Aaltonen; Irma Järvelä
The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population.
Gut 2005;54(5):643-7.
2005: Päivi Puska; Susanna Lemmelä; Paula Kristo; Eeva-Marja Sankila; Irma Järvelä
Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma.
Ophthalmic genetics 2005;26(1):17-23.
2005: Tero Ylisaukko-Oja; Karola Rehnström; Raija Vanhala; Elli Kempas; Harriet von Koskull; Carola Tengström; Aki Mustonen; Katrin Ounap; Jaana Lähdetie; Irma Järvelä
MECP2 mutation analysis in patients with mental retardation.
American journal of medical genetics. Part A 2005;132A(2):121-4.
2005: Irma Järvelä
Molecular diagnosis of adult-type hypolactasia (lactase non-persistence).
Scandinavian journal of clinical and laboratory investigation 2005;65(7):535-9.
2005: Irma Järvelä
Molecular genetics of adult-type hypolactasia.
Annals of medicine 2005;37(3):179-85.
2005: Taina Nieminen-von Wendt; Juulia E Paavonen; Tero Ylisaukko-Oja; Susan Sarenius; Tiia Källman; Irma Järvelä; Lennart von Wendt
Subjective face recognition difficulties, aberrant sensibility, sleeping disturbances and aberrant eating habits in families with Asperger syndrome.
BMC psychiatry 2005;5():20.
2005: Nabil Sabri Enattah; Raimo Sulkava; Pirjo Halonen; Kimmo Kontula; Irma Järvelä
Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age.
Journal of the American Geriatrics Society 2005;53(1):79-82.
2005: Tero Ylisaukko-Oja; Myriam Peyrard-Janvid; Cecilia M Lindgren; Karola Rehnström; Raija Vanhala; Leena Peltonen; Irma Järvelä; Juha Kere
Family-based association study of DYX1C1 variants in autism.
European journal of human genetics : EJHG 2005;13(1):127-30.
2004: Kaisu Luiro; Kristiina Yliannala; Laura Ahtiainen; Heidi Maunu; Irma Järvelä; Aija Kyttälä; Anu Jalanko
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.
Human molecular genetics 2004;13(23):3017-27.
2004: Nabil Sabri Enattah; Ville-Valtteri Välimäki; Matti J Välimäki; Eliisa Löyttyniemi; Timo Sahi; Irma Järvelä
Molecularly defined lactose malabsorption, peak bone mass and bone turnover rate in young finnish men.
Calcified tissue international 2004;75(6):488-93.
2004: Heli Rasinperä; Erkki Savilahti; Nabil Sabri Enattah; Mikko Kuokkanen; N Tötterman; Harry Lindahl; Irma Järvelä; Kaija-Leena Kolho
A genetic test which can be used to diagnose adult-type hypolactasia in children.
Gut 2004;53(11):1571-6.
2004: Nabil Sabri Enattah; Carol Forsblom; Heli Rasinperä; T Tuomi; P-H Groop; Irma Järvelä
The genetic variant of lactase persistence C (-13910) T as a risk factor for type I and II diabetes in the Finnish population.
European journal of clinical nutrition 2004;58(9):1319-22.
2004: Susanna Lemmelä; Tero Ylisaukko-Oja; Eva Forsman; Irma Järvelä
Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families.
Molecular vision 2004;10():260-4.
2004: Tero Ylisaukko-Oja; Taina Nieminen-von Wendt; Elli Kempas; Susan Sarenius; Teppo Varilo; Lennart von Wendt; Leena Peltonen; Irma Järvelä
Genome-wide scan for loci of Asperger syndrome.
Molecular psychiatry 2004;9(2):161-8.
2004: Tero Ylisaukko-Oja; Karola Rehnström; Raija Vanhala; Carola Tengström; Jaana Lähdetie; Irma Järvelä
Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.
Human genetics 2004;114(2):211-3.
2003: Mari Auranen; Teppo Varilo; Reija Alen; Raija Vanhala; K Ayers; Elli Kempas; Tero Ylisaukko-Oja; Leena Peltonen; Irma Järvelä
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: Eva Forsman; Susanna Lemmelä; Teppo Varilo; Paula Kristo; Henrik Forsius; Eeva-Marja Sankila; Irma Järvelä
The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study.
Molecular vision 2003;9():217-22.
2003: Mikko Kuokkanen; Nabil Sabri Enattah; Aino Oksanen; Erkki Savilahti; Arto Orpana; Irma Järvelä
Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia.
Gut 2003;52(5):647-52.
2003: Marjo Kestilä; Irma Järvelä
Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1).
Prenatal diagnosis 2003;23(4):323-4.
2002: Mari Auranen; Raija Vanhala; Teppo Varilo; Kristin Ayers; Elli Kempas; Tero Ylisaukko-Oja; Janet S Sinsheimer; Leena Peltonen; Irma Järvelä
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: A Rakkolainen; Sirpa Ala-Mello; Paula Kristo; Arto Orpana; Irma Järvelä
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
Journal of medical genetics 2002;39(4):292-6.
2002: Nabil Sabri Enattah; Timo Sahi; Erkki Savilahti; Joseph D Terwilliger; Leena Peltonen; Irma Järvelä
Identification of a variant associated with adult-type hypolactasia.
Nature genetics 2002;30(2):233-7.
2001: Mari Auranen; Sirpa Ala-Mello; Joni A Turunen; Irma Järvelä
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21.
Kidney international 2001;60(4):1225-32.
2001: Mari Auranen; Raija Vanhala; M Vosman; M Levander; Teppo Varilo; M Hietala; Raili Riikonen; Leena Peltonen; Irma Järvelä
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.
Neurology 2001;56(5):611-7.
2001: Sara E Mole; NA Zhong; A Sarpong; W P Logan; S Hofmann; W Yi; PF Franken; Otto P van Diggelen; Martijn H Breuning; Dorota Moroziewicz; Weina Ju; Outi Kopra; V Holmberg; Irma Järvelä; Peter E M Taschner
New mutations in the neuronal ceroid lipofuscinosis genes.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5 Suppl A():7-10.
2000: V Holmberg; Leena Lauronen; Taina Autti; Pirkko Santavuori; M Savukoski; P Uvebrant; IL Hofman; Leena Peltonen; Irma Järvelä
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
Neurology 2000;55(4):579-81.
2000: Mari Auranen; T Nieminen; S Majuri; Raija Vanhala; Leena Peltonen; Irma Järvelä
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: Mari Auranen; Raija Vanhala; Irma Järvelä
[First gene connected to autism spectrum disorders has been found].
Duodecim; lääketieteellinen aikakauskirja 2000;116(20):2185-7.
2000: Tarja Salonen; Irma Järvelä; Leena Peltonen; Anu Jalanko
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Human mutation 2000;15(3):273-9.
1999: Juhani Rapola; Jaana Lähdetie; Juha Isosomppi; P Helminen; Maila Penttinen; Irma Järvelä
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
Prenatal diagnosis 1999;19(7):685-8.
1999: Irma Järvelä; M Lehtovirta; R Tikkanen; Aija Kyttälä; Anu Jalanko
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
Human molecular genetics 1999;8(6):1091-8.
1999: Leena Lauronen; Patricia B Munroe; Irma Järvelä; Taina Autti; Hannah M Mitchison; AM O'Rawe; R Mark Gardiner; Sara E Mole; Johanna Puranen; Anna-Maija Häkkinen; Erika Kirveskari; Pirkko Santavuori
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.
Neurology 1999;52(2):360-5.
1998: Irma Järvelä; M Savukoski; P Ammälä; Harriet von Koskull
Prenatally detected paternal uniparental chromosome 13 isodisomy.
Prenatal diagnosis 1998;18(11):1169-73.
1998: Irma Järvelä; Nabil Sabri Enattah; J Kokkonen; Teppo Varilo; Erkki Savilahti; Leena Peltonen
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: Laura E Aberg; Irma Järvelä; Juhani Rapola; Taina Autti; Erika Kirveskari; Marjatta Lappi; L Sipilä; Pirkko Santavuori
Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall.
Acta neuropathologica 1998;95(3):306-12.
1998: Irma Järvelä; L Palotie
[Suggestions from Department of Health and Security's genetic screening advisory committee have been published].
Duodecim; lääketieteellinen aikakauskirja 1998;22(114):2287-9.
1998: Irma Järvelä; Markku Sainio; T Rantamäki; V M Olkkonen; Olli Carpén; Leena Peltonen; Anu Jalanko
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
Human molecular genetics 1998;7(1):85-90.
1997: Irma Järvelä; Taina Autti; S Lamminranta; Laura E Aberg; Raili Raininko; Pirkko Santavuori
Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).
Annals of neurology 1997;42(5):799-802.
1997: Julie D Sharp; Ruth B Wheeler; BD Lake; M Savukoski; Irma Järvelä; L Peltonen; R Mark Gardiner; Ruth E Williams
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
Human molecular genetics 1997;6(4):591-5.
1997: Ann-Christine Syvänen; Irma Järvelä; Tiina Paunio; Jouni Vesa
DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses.
Neuropediatrics 1997;28(1):63-6.
1997: Patricia B Munroe; AM O'Rawe; Hannah M Mitchison; Irma Järvelä; Pirkko Santavuori; Terry J Lerner; Peter E M Taschner; R Mark Gardiner; Sara E Mole
Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.
Neuropediatrics 1997;28(1):15-7.
1996: Irma Järvelä; Hannah M Mitchison; Patricia B Munroe; AM O'Rawe; Sara E Mole; Ann-Christine Syvänen
Rapid diagnostic test for the major mutation underlying Batten disease.
Journal of medical genetics 1996;33(12):1041-2.
1996: T Klockars; M Savukoski; Juha Isosomppi; M Laan; Irma Järvelä; K Petrukhin; Aarno Palotie; Leena Peltonen
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: Teppo Varilo; M Savukoski; R Norio; Pirkko Santavuori; Leena Peltonen; Irma Järvelä
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: Irma Järvelä; E Hellsten; Jouni Vesa; L Palotie
[The molecular etiology of neuronal ceroid lipofuscinosis].
Duodecim; lääketieteellinen aikakauskirja 1996;112(13):1139-41.
1995: Irma Järvelä; Hannah M Mitchison; AM O'Rawe; Patricia B Munroe; Peter E M Taschner; NM de Vos; Terry J Lerner; K L D'Arigo; David F Callen; A D Thompson
YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2.
Genomics 1995;29(2):478-89.
1995: J Sharp; M Savukoski; Ruth B Wheeler; J Harris; Irma Järvelä; Leena Peltonen; M Gardiner; Roger Williams
Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
American journal of medical genetics 1995;57(2):348-9.
1995: Irma Järvelä; Hannah M Mitchison; David F Callen; Terry J Lerner; Norman A Doggett; Peter E M Taschner; R Mark Gardiner; Sara E Mole
Physical map of the region containing the gene for Batten disease (CLN3).
American journal of medical genetics 1995;57(2):316-9.
1995: Hannah M Mitchison; AM O'Rawe; Peter E M Taschner; L A Sandkuijl; Pirkko Santavuori; NM de Vos; Martijn H Breuning; Sara E Mole; R Mark Gardiner; Irma Järvelä
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
American journal of human genetics 1995;56(3):654-62.
1995: E Hellsten; Jouni Vesa; M Heiskanen; Tomi Mäkelä; Irma Järvelä; John Kenneth Cowell; S Mead; Kari Alitalo; Aarno Palotie; Leena Peltonen
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: Julie D Sharp; Ruth B Wheeler; M Savukoski; M Kestila; Irma Järvelä; Leena Peltonen; H Eiberg; R Mark Gardiner; Roger Williams
Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2)
European journal of human genetics : EJHG 1995;3(5):326-8.
1994: M Savukoski; M Kestilä; Roger Williams; Irma Järvelä; J Sharp; J Harris; Pirkko Santavuori; M Gardiner; Leena Peltonen
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: Roger Williams; Pirkko Santavuori; Leena Peltonen; R Mark Gardiner; Irma Järvelä
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.
1993: Roger Williams; Jouni Vesa; Irma Järvelä; T McKay; Hannah M Mitchison; E Hellsten; A Thompson; David F Callen; G Sutherland; D Luna-Battadano
Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
American journal of human genetics 1993;53(4):931-5.
1993: E Hellsten; Jouni Vesa; M C Speer; Tomi Mäkelä; Irma Järvelä; Kari Alitalo; J Ott; Leena Peltonen
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: Roger Williams; Hannah M Mitchison; T Mckay; Irma Järvelä; R Mark Gardiner
Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis (CLN2) using markers on chromosome 16p.
Journal of inherited metabolic disease 1993;16(2):342-4.
1993: E Hellsten; Jouni Vesa; Irma Järvelä; Tomi Mäkelä; Pirkko Santavuori; Leena Peltonen
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: Hannah M Mitchison; R E Williams; T R McKay; David F Callen; A D Thompson; John C Mulley; R L Stallings; C E Hildebrand; R K Moyzis; Irma Järvelä
Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16.
Journal of inherited metabolic disease 1993;16(2):339-41.
1993: Jouni Vesa; E Hellsten; Tomi Mäkelä; Irma Järvelä; T Airaksinen; Pirkko Santavuori; Leena Peltonen
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: Irma Järvelä; Jouni Vesa; Pirkko Santavuori; E Hellsten; Leena Peltonen
Molecular genetics of neuronal ceroid lipofuscinoses.
Pediatric research 1992;32(6):645-8.
1992: Kalle Jokelainen; K S Salmela; K Humaloja; R Roine; S Autio; Maria Arvio; Irma Järvelä; I Nykänen; J Palo; Mikko Salaspuro
Blood dolichol in lysosomal diseases.
Biochemistry and cell biology = Biochimie et biologie cellulaire 1992;70(6):481-5.
1992: Irma Järvelä; P Santavuori; L Puhakka; M Haltia; Leena Peltonen
Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p.
American journal of medical genetics 1992;42(4):546-8.
1991: Juhani Rapola; Irma Järvelä; Leena Peltonen
The neuronal ceroid lipofuscinoses: unfolding the genetic defect.
Pediatric pathology / affiliated with the International Paediatric Pathology Association 1991;11(6):799-806.
1991: Irma Järvelä
Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.
Genomics 1991;10(2):333-7.
1991: Irma Järvelä; J Rapola; Leena Peltonen; L Puhakka; Jouni Vesa; P Ammälä; R Salonen; Markku Ryynänen; P Haring; A Mustonen
DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).
Prenatal diagnosis 1991;11(5):323-8.
1991: Irma Järvelä; J Schleutker; L Haataja; P Santavuori; L Puhakka; T Manninen; Aarno Palotie; L A Sandkuijl; M Renlund; Raymond White
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.
Genomics 1991;9(1):170-3.
1991: Irma Järvelä; L Palotie; P Santavuori; J Rapola
[Gene localization will explain the basic causes of neuronal ceroid lipofuscinoses].
Duodecim; lääketieteellinen aikakauskirja 1991;107(8):632-5.