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Helena Kääriäinen

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Pia Pohjola; Klaus Elenius; Maarit Peippo; Maila Penttinen; Helena Kääriäinen
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Katja I Aktan-Collan; Helena Kääriäinen; Eeva M Kolttola; Kirsi Pylvänäinen; Heikki J Järvinen; Ari H Haukkala; Jukka-Pekka Mecklin
Sharing genetic risk with next generation: mutation-positive parents' communication with their offspring in Lynch Syndrome.
Pia Pohjola; Nicole de Leeuw; Maila Penttinen; Helena Kääriäinen
Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.

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All Publications

2012: Pia Pohjola; Klaus Elenius; Maarit Peippo; Maila Penttinen; Helena Kääriäinen
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Genetic testing and molecular biomarkers 2012;16(10):1188-94.
2011: Katja I Aktan-Collan; Helena Kääriäinen; Eeva M Kolttola; Kirsi Pylvänäinen; Heikki J Järvinen; Ari H Haukkala; Jukka-Pekka Mecklin
Sharing genetic risk with next generation: mutation-positive parents' communication with their offspring in Lynch Syndrome.
Familial cancer 2011;10(1):43-50.
2010: Pia Pohjola; Nicole de Leeuw; Maila Penttinen; Helena Kääriäinen
Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.
American journal of medical genetics. Part A 2010;152A(2):441-6.
2010: P Javaher; E Nyoungui; Helena Kääriäinen; Ulf Kristoffersson; Irmgard Nippert; Jorge Sequeiros; Jörg Schmidtke
Genetic screening in Europe.
Public health genomics 2010;13(7-8):524-37.
2009: Kati Mykkänen; Maija Junna; Kaarina Amberla; Lena Bronge; Helena Kääriäinen; Minna Pöyhönen; Hannu Kalimo; Matti Viitanen
Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation.
Stroke; a journal of cerebral circulation 2009;40(6):2215-8.
2009: Annette Gylling; Maaret Ridanpää; Outi Vierimaa; Kristiina Aittomäki; Kristiina Avela; Helena Kääriäinen; Hannele Laivuori; Minna Pöyhönen; Satu-Leena Sallinen; Carina Wallgren-Pettersson; Heikki J Järvinen; Jukka-Pekka Mecklin; Päivi Peltomäki
Large genomic rearrangements and germline epimutations in Lynch syndrome.
International journal of cancer. Journal international du cancer 2009;124(10):2333-40.
2009: H Annika Siitonen; Jenni Sotkasiira; Martine Biervliet; Abdelmadjid Benmansour; Yline Capri; Valerie Cormier-Daire; Barbara Crandall; Katariina Hannula-Jouppi; Raoul Hennekam; Denise Herzog; Kathelijn Keymolen; Marita Lipsanen-Nyman; Peter Miny; Sharon E Plon; Stefan Riedl; Ajoy Sarkar; Fernando R Vargas; Alain Verloes; Lisa L Wang; Helena Kääriäinen; Marjo Kestilä
The mutation spectrum in RECQL4 diseases.
European journal of human genetics : EJHG 2009;17(2):151-8.
2008: Pia E Vuorela; Maila T Penttinen; Marja H Hietala; Jukka Laine; Kirsi A Huoponen; Helena Kääriäinen
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.
Clinical dysmorphology 2008;17(4):249-53.
2008: Elina Rantanen; Marja Hietala; Ulf Kristoffersson; Irmgard Nippert; Jörg Schmidtke; Jorge Sequeiros; Helena Kääriäinen
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.
European journal of human genetics : EJHG 2008;16(10):1208-16.
2008: Taru Ahvenainen; Heli J Lehtonen; Rainer Lehtonen; Pia Vahteristo; Kristiina Aittomäki; Gareth Baynam; Charlotte Dommering; Charis Eng; Stephen B Gruber; Henrik Grönberg; Rauno Harvima; Riitta Herva; Marja Hietala; Minna Kujala; Helena Kääriäinen; Lone Sunde; Outi Vierimaa; Patrick J Pollard; Ian P M Tomlinson; Erik Björck; Lauri A Aaltonen; Virpi Launonen
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Cancer genetics and cytogenetics 2008;183(2):83-8.
2008: Elina Rantanen; Marja Hietala; Ulf Kristoffersson; Irmgard Nippert; Jörg Schmidtke; Jorge Sequeiros; Helena Kääriäinen
What is ideal genetic counselling? A survey of current international guidelines.
European journal of human genetics : EJHG 2008;16(4):445-52.
2007: Katja Aktan-Collan; Ari Haukkala; Kirsi Pylvänäinen; Heikki J Järvinen; Lauri A Aaltonen; Päivi Peltomäki; E Rantanen; Helena Kääriäinen; Jukka-Pekka Mecklin
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.
Journal of medical genetics 2007;44(11):732-8.
2007: Pia Vuorela; Sirpa Ala-Mello; Carola Saloranta; Maila Penttinen; Minna Pöyhönen; Kirsi Huoponen; Wiktor Borozdin; Birke Bausch; Elke M Botzenhart; Christian Wilhelm; Helena Kääriäinen; Juergen Kohlhase
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(10):690-4.
2007: Brita Liljeström; Tiinamaija Tuomi; Bo Isomaa; Leena Sarelin; Katja Aktan-Collan; Helena Kääriäinen
Adolescents at risk for MODY3 diabetes prefer genetic testing before adulthood.
Diabetes care 2007;30(6):1571-3.
2007: Katri Pylkäs; Johanna Tommiska; Kirsi Syrjäkoski; Juha Kere; Magtouf Gatei; Nicola Waddell; Minna Allinen; Sanna-Maria Karppinen; Katrin Rapakko; Helena Kääriäinen; Kristiina Aittomäki; Carl Blomqvist; Aki Mustonen; Kaija Holli; Kum Kum Khanna; Olli Kallioniemi; Heli Nevanlinna; Robert Winqvist
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.
Carcinogenesis 2007;28(5):1040-5.
2006: Sirpa Soini; Dolores Ibarreta; Violetta Anastasiadou; Ségolène Aymé; Suzanne Braga; Martina C Cornel; Domenico A Coviello; Gerry Evers-Kiebooms; Joep P M Geraedts; Luca Gianaroli; Joyce Harper; György Kosztolanyi; Kersti Lundin; Emilio Rodrigues-Cerezo; Karen Sermon; Jorge Sequeiros; Lisbeth Tranebjaerg; Helena Kääriäinen
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.
European journal of human genetics : EJHG 2006;14(5):588-645.
2005: Katariina Hannula-Jouppi; Nina Kaminen-Ahola; Mikko Taipale; Ranja Eklund; Jaana Nopola-Hemmi; Helena Kääriäinen; Juha Kere
The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia.
PLoS genetics 2005;1(4):e50.
2005: Helena Kääriäinen; Gerry Evers-Kiebooms; Domenico A Coviello
Medically assisted reproduction and ethical challenges.
Toxicology and applied pharmacology 2005;207(2 Suppl):684-8.
2005: Jørgen H Olsen; Johanne M D Hahnemann; Anne-Lise Børresen-Dale; Steinar Tretli; R Kleinerman; Risto Sankila; L Hammarström; Trude Eid Robsahm; Helena Kääriäinen; A Bregård; Karen Brøndum-Nielsen; J Yuen; M Tucker
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
British journal of cancer 2005;93(2):260-5.
2005: Brita Liljeström; Katja Aktan-Collan; Bo Isomaa; Leena Sarelin; Antti Uutela; Leif Groop; Helena Kääriäinen; Tiinamaija Tuomi
Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer.
Diabetologia 2005;48(2):242-50.
2005: Esa Tahvanainen; Pia Tahvanainen; Helena Kääriäinen; Krister Höckerstedt
Polycystic liver and kidney diseases.
Annals of medicine 2005;37(8):546-55.
2004: Tuija Löppönen; Jarmo Körkkö; Tuija Lundan; Ulpu Seppänen; Jaakko Ignatius; Helena Kääriäinen
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Arthritis and rheumatism 2004;51(6):925-32.
2004: Sonia Davila; Laszlo Furu; Ali G Gharavi; Xin Tian; Tamehito Onoe; Qi Qian; Airong Li; Yiqiang Cai; Patrick S Kamath; Bernard F King; Pablo J Azurmendi; Pia Tahvanainen; Helena Kääriäinen; Krister Höckerstedt; Olivier Devuyst; Yves Pirson; Rodolfo S Martin; Richard P Lifton; Esa Tahvanainen; Vicente E Torres; Stefan Somlo
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Nature genetics 2004;36(6):575-7.
2004: Joost P H Drenth; Esa Tahvanainen; René H M Te Morsche; Pia Tahvanainen; Helena Kääriäinen; Krister Höckerstedt; Jiddeke M van de Kamp; Martijn H Breuning; J B M J Jansen
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.
Hepatology (Baltimore, Md.) 2004;39(4):924-31.
2004: Minna H Pöyhönen; Maarit Peippo; Leena Valanne; Kirsti E Kuokkanen; Susanna M Koskela; Oliver Bartsch; Sasan Rasi; Glenis J Wiebe; Marketta Kähkönen; Helena Kääriäinen
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.
Clinical dysmorphology 2004;13(2):85-90.
2004: Esa Tahvanainen; Pia Tahvanainen; Helena Kääriäinen; Krister Höckerstedt
[Genetic defects underlying polycystic liver disease are discovered].
Duodecim; lääketieteellinen aikakauskirja 2004;120(9):1081-4.
2004: Maria A Arvio; Maarit Peippo; Pekka J Arvio; Helena Kääriäinen
Dysmorphic facial features in aspartylglucosaminuria patients and carriers.
Clinical dysmorphology 2004;13(1):11-5.
2003: Béatrice Godard; Helena Kääriäinen; Ulf Kristoffersson; Lisbeth Tranebjaerg; Domenico A Coviello; Ségolène Aymé
Provision of genetic services in Europe: current practices and issues.
European journal of human genetics : EJHG 2003;11 Suppl 2():S13-48.
2003: Meredith Wilson; David Mowat; Florence Dastot-Le Moal; Valère Cacheux; Helena Kääriäinen; Danny Cass; Dian Donnai; Jill Clayton-Smith; Sharron Townshend; Cynthia Curry; Michael Gattas; Stephen Braddock; Bronwyn Kerr; Salim Aftimos; Harry Zehnwirth; Catherine Barrey; Michel Goossens
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
American journal of medical genetics. Part A 2003;119A(3):257-65.
2003: Miia Melkoniemi; Hannele Koillinen; Minna Männikkö; Matthew L Warman; Tero Pihlajamaa; Helena Kääriäinen; Jorma Rautio; Jyri Hukki; Joseph A Stofko; George J Cisneros; Deborah Krakow; Daniel H Cohn; Juha Kere; Leena Ala-Kokko
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
European journal of human genetics : EJHG 2003;11(3):265-70.
2003: Pia Tahvanainen; Esa Tahvanainen; Hanna Reijonen; Leena Halme; Helena Kääriäinen; Krister Höckerstedt
Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families.
Journal of hepatology 2003;38(1):39-43.
2002: H Malm; Eero Kajantie; Sirpa Kivirikko; Helena Kääriäinen; M Peippo; Mirja Somer
Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility.
Neurology 2002;59(4):630-3.
2002: Minna Allinen; Virpi Launonen; K Laake; L Jansen; Pia Huusko; Helena Kääriäinen; Anne-Lise Børresen-Dale; Robert Winqvist
ATM mutations in Finnish breast cancer patients.
Journal of medical genetics 2002;39(3):192-6.
2001: Katja Aktan-Collan; Ari Haukkala; Jukka-Pekka Mecklin; Antti Uutela; Helena Kääriäinen
Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer.
Journal of medical genetics 2001;38(11):787-92.
2001: Katja Aktan-Collan; Ari Haukkala; Jukka-Pekka Mecklin; Antti Uutela; Helena Kääriäinen
Psychological consequences of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a prospective follow-up study.
International journal of cancer. Journal international du cancer 2001;93(4):608-11.
2001: James D McKay; Fabienne LESUEUR; L Jonard; pastore alessandro; J Williamson; L Hoffman; J Burgess; A Duffield; Mauro Papotti; M Stark; H Sobol; B Maes; Arnaud Murat; Helena Kääriäinen; M Bertholon-Grégoire; M Zini; M A Rossing; Marie-Elisabeth Toubert; Françoise Bonichon; M Cavarec; A M Bernard; A Boneu; F Leprat; O Haas; Christine Lasset; Martin Schlumberger; Federico Canzian; David E Goldgar; Giovanni Romeo
Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21.
American journal of human genetics 2001;69(2):440-6.
2001: Valère Cacheux; Florence Dastot-Le Moal; Helena Kääriäinen; Nadege Bondurand; R Rintala; Brigitte Boissier; Meredith Wilson; David Mowat; Michel Goossens
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
Human molecular genetics 2001;10(14):1503-10.
2001: Helena Kääriäinen; Carina Wallgren-Pettersson; A Clarke; Helena Pihko; H Taskinen; R Rintala
Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children.
Clinical dysmorphology 2001;10(3):157-63.
2001: Sirpa Ala-Mello; Helena Kääriäinen; Olli Koskimies
Nephronophthisis and ulcerative colitis in siblings: a new association.
Pediatric nephrology (Berlin, Germany) 2001;16(6):507-9.
2001: Kimmo Pääkkönen; S Sauramo; Laura Sarantaus; Pia Vahteristo; A Hartikainen; Paula Vehmanen; Jaakko Ignatius; Vesa Ollikainen; Helena Kääriäinen; E Vauramo; Heli Nevanlinna; Ralf Krahe; Kaija Holli; Juha Kere
Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population.
Genetic epidemiology 2001;20(2):239-46.
2001: Jørgen H Olsen; Johanne M D Hahnemann; Anne-Lise Børresen-Dale; Karen Brøndum-Nielsen; L Hammarström; R Kleinerman; Helena Kääriäinen; T Lönnqvist; Risto Sankila; N Seersholm; Steinar Tretli; J Yuen; John D Boice; M Tucker
Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries.
Journal of the National Cancer Institute 2001;93(2):121-7.
2000: O Järvinen; Marja Hietala; Anna-Mari Aalto; Maria Arvio; Antti Uutela; Pertti Aula; Helena Kääriäinen
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
Clinical genetics 2000;58(6):447-54.
2000: O Järvinen; Anna-Elina Lehesjoki; M Lindlöf; Antti Uutela; Helena Kääriäinen
Carrier testing of children for two X-linked diseases: A retrospective study of comprehension of the test results and social and psychological significance of the testing.
Pediatrics 2000;106(6):1460-5.
2000: K Laake; L Jansen; Johanne M D Hahnemann; karen brondum-nielsen; T Lönnqvist; Helena Kääriäinen; Risto Sankila; A Lähdesmäki; L Hammarström; J Yuen; Steinar Tretli; A Heiberg; Jørgen H Olsen; M Tucker; R Kleinerman; Anne-Lise Børresen-Dale
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
Human mutation 2000;16(3):232-46.
2000: P Martin; N Heiskari; H Pajari; C Grönhagen-Riska; Helena Kääriäinen; Olli Koskimies; Karl Tryggvason
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
Human mutation 2000;15(6):579.
2000: Reijo Salovaara; Anu Loukola; Paula Kristo; Helena Kääriäinen; H Ahtola; Matti Eskelinen; N Härkönen; Risto Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; Heikki Järvinen; Jukka-Pekka Mecklin; Lauri A Aaltonen; Albert de La Chapelle
Population-based molecular detection of hereditary nonpolyposis colorectal cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2000;18(11):2193-200.
2000: Miia Melkoniemi; H G Brunner; Sylvie MANOUVRIER; Raoul Hennekam; andrea superti-furga; Helena Kääriäinen; Richard M Pauli; T van Essen; Matthew L Warman; J Bonaventure; P Miny; Leena Ala-Kokko
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
American journal of human genetics 2000;66(2):368-77.
2000: Katja Aktan-Collan; Jukka-Pekka Mecklin; Albert de La Chapelle; Päivi Peltomäki; Antti Uutela; Helena Kääriäinen
Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer.
Journal of medical genetics 2000;37(2):108-13.
2000: Katja Aktan-Collan; Jukka-Pekka Mecklin; Heikki Järvinen; Minna Nyström-Lahti; Päivi Peltomäki; I Söderling; Antti Uutela; Albert de La Chapelle; Helena Kääriäinen
Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction.
International journal of cancer. Journal international du cancer 2000;89(1):44-50.
2000: Helena Kääriäinen
[Risks and adverse effects of genetic screening].
Duodecim; lääketieteellinen aikakauskirja 2000;116(8):909-13.
1999: Anu Loukola; Reijo Salovaara; Paula Kristo; Anu-Liisa Moisio; Helena Kääriäinen; H Ahtola; Matti Eskelinen; N Härkönen; Risto Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; Heikki Järvinen; Jukka-Pekka Mecklin; Albert de La Chapelle; Lauri A Aaltonen
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.
The American journal of pathology 1999;155(6):1849-53.
1999: S Annunen; Jarmo Körkkö; M Czarny; Matthew L Warman; H G Brunner; Helena Kääriäinen; J B Mulliken; Lisbeth Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; Ilkka Kaitila; Maciej R Krawczynski; Anna Latos-Bielenska; S Mukai; Bjorn R Olsen; N Shinno; Mirja Somer; Miikka Vikkula; J Zlotogora; Darwin J Prockop; Leena Ala-Kokko
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
American journal of human genetics 1999;65(4):974-83.
1999: O Järvinen; Anna-Mari Aalto; Anna-Elina Lehesjoki; M Lindlöf; I Söderling; Antti Uutela; Helena Kääriäinen
Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation.
Journal of medical genetics 1999;36(8):615-20.
1999: H Pajari; Olli Koskimies; Timo Muhonen; Helena Kääriäinen
The burden of genetic disease and attitudes towards gene testing in Alport syndrome.
Pediatric nephrology (Berlin, Germany) 1999;13(6):471-6.
1999: H Pajari; K Setälä; N Heiskari; Helena Kääriäinen; K Rosenlöf; Olli Koskimies
Ocular findings in 34 patients with Alport syndrome: correlation of the findings to mutations in COL4A5 gene.
Acta ophthalmologica Scandinavica 1999;77(2):214-7.
1999: Sirpa Ala-Mello; Olli Koskimies; Juhani Rapola; Helena Kääriäinen
Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.
European journal of human genetics : EJHG 1999;7(2):205-11.
1999: O Järvinen; Anna-Elina Lehesjoki; M Lindlöf; Antti Uutela; Helena Kääriäinen
Carrier testing of children for two X-linked diseases: a retrospective evaluation of experience and satisfaction of subjects and their mothers.
Genetic testing 1999;3(4):347-55.
1998: Lauri A Aaltonen; Reijo Salovaara; Paula Kristo; F Canzian; Akseli Hemminki; Päivi Peltomäki; R B Chadwick; Helena Kääriäinen; Matti Eskelinen; Heikki Järvinen; Jukka-Pekka Mecklin; Albert de La Chapelle
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.
The New England journal of medicine 1998;338(21):1481-7.
1998: Sirpa Ala-Mello; Eeva-Marja Sankila; Olli Koskimies; Albert de La Chapelle; Helena Kääriäinen
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.
Journal of medical genetics 1998;35(4):279-83.
1998: H Järvinen; M Färkkilä; K Höckerstedt; Helena Kääriäinen
[Hereditary polycystic liver disease].
Duodecim; lääketieteellinen aikakauskirja 1998;114(1):42-6.
1997: Tarja Laitinen; Pekka E Kauppi; Jaakko Ignatius; T Ruotsalainen; Mark J Daly; Helena Kääriäinen; L Kruglyak; Harri Laitinen; ALBERT DE LA CHAPELLE; Eric S Lander; Lauri A Laitinen; Juha Kere
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population.
Human molecular genetics 1997;6(12):2069-76.
1997: Timo Muhonen; Hannaleena Eerola; Paula Vehmanen; Heli Nevanlinna; K Aktan; Carl Blomqvist; Helena Kääriäinen; Seppo Pyrhönen
Breast cancer risk estimation in families with history of breast cancer.
British journal of cancer 1997;76(9):1228-31.
1996: T Joensuu; G Blanco; L Pakarinen; Pertti Sistonen; Helena Kääriäinen; S Brown; A Chapelle; Eeva-Marja Sankila
Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.
Genomics 1996;38(3):255-63.
1996: H Pajari; Helena Kääriäinen; Timo Muhonen; Olli Koskimies
Alport's syndrome in 78 patients: epidemiological and clinical study.
Acta paediatrica (Oslo, Norway : 1992) 1996;85(11):1300-6.
1995: P Salo; Helena Kääriäinen; V Petrovic; Päivi Peltomäki; D C Page; Albert de La Chapelle
Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.
Genes, chromosomes & cancer 1995;14(3):210-4.
1995: P Salo; Jaakko Ignatius; K O Simola; Esa Tahvanainen; Helena Kääriäinen
Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.
Journal of medical genetics 1995;32(9):711-5.
1995: Maria Bitner-Glindzicz; P Turnpenny; P Höglund; Helena Kääriäinen; Eeva-Marja Sankila; S M van der Maarel; Yvette J M de Kok; Hans-Hilger Ropers; Frans P M Cremers; Marcus E Pembrey
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
Human molecular genetics 1995;4(8):1467-9.
1995: P Ritvaniemi; Jarmo Körkkö; Jacky Bonaventure; Miikka Vikkula; J Hyland; Petteri Paassilta; I Kaitila; Helena Kääriäinen; B P Sokolov; M Hakala
Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.
Arthritis and rheumatism 1995;38(7):999-1004.
1995: P Salo; Helena Kääriäinen; D C Page; Albert de La Chapelle
Deletion mapping of stature determinants on the long arm of the Y chromosome.
Human genetics 1995;95(3):283-6.
1995: Sirpa Ala-Mello; Olli Koskimies; Helena Kääriäinen
[Nephronophthisis--hereditary progressive renal disease].
Duodecim; lääketieteellinen aikakauskirja 1995;111(13):1222-7.
1995: Eeva-Marja Sankila; L Pakarinen; Helena Kääriäinen; Kristiina Aittomäki; S Karjalainen; Pertti Sistonen; Albert de La Chapelle
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
Human molecular genetics 1995;4(1):93-8.
1994: Sirpa Ranta; Anna-Elina Lehesjoki; M Peippo; Helena Kääriäinen
Hemophilia A: experiences and attitudes of mothers, sisters, and daughters.
Pediatric hematology and oncology 1994;11(4):387-97.
1994: H Boyd; J Kaste; E Hovi; U M Ritanen-Mohammed; Helena Kääriäinen; Albert de La Chapelle; Anna-Elina Lehesjoki
Familial pericentric inversion inv(8)(p23q11).
Journal of medical genetics 1994;31(3):201-5.
1994: Helena Kääriäinen
[From the DNA laboratory to the clinical practice].
Duodecim; lääketieteellinen aikakauskirja 1994;110(7):757-61.
1994: Albert de La Chapelle; P Harper; Helena Kääriäinen; Reijo Norio
A European research conference on the inherited disorders and their genes in different European populations.
European journal of human genetics : EJHG 1994;2(3):191-2.
1993: Jarmo Körkkö; P Ritvaniemi; L Haataja; Helena Kääriäinen; Kari I Kivirikko; Darwin J Prockop; Leena Ala-Kokko
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
American journal of human genetics 1993;53(1):55-61.
1993: Helena Kääriäinen; M Barrow; Raoul Hennekam
Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.
American journal of medical genetics 1993;46(2):223-7.
1993: T Furu; Helena Kääriäinen; Eeva-Marja Sankila; Reijo Norio
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives.
Clinical genetics 1993;43(3):160-5.
1993: Marcelo L Larramendy; M Heiskanen; Maija Wessman; A Ritvanen; Päivi Peltomäki; K Simola; Helena Kääriäinen; Harriet von Koskull; M Kähkönen; Sakari Knuutila
Molecular cytogenetic study of patients with Pallister-Killian syndrome.
Human genetics 1993;91(2):121-7.
1990: Carina Wallgren-Pettersson; Helena Kääriäinen; Juhani Rapola; T Salmi; Juha Jääskeläinen; M Donner
Genetics of congenital nemaline myopathy: a study of 10 families.
Journal of medical genetics 1990;27(8):480-7.
1990: Helena Kääriäinen; M Lindlöf; Hannu Somer; Albert de La Chapelle
Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results.
Clinical genetics 1990;37(3):179-87.
1989: S Karjalainen; L Pakarinen; M Teräsvirta; Helena Kääriäinen; E Vartiainen
Progressive hearing loss in Usher's syndrome.
The Annals of otology, rhinology, and laryngology 1989;98(11):863-6.
1989: Helena Kääriäinen; S Ryöppy; R Norio
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.
American journal of medical genetics 1989;33(3):346-51.
1989: M Lindlöf; A Kiuru; Helena Kääriäinen; Hannu Kalimo; H Lang; Helena Pihko; Juhani Rapola; Hannu Somer; Mirja Somer; Marja-Liisa Savontaus
Gene deletions in X-linked muscular dystrophy.
American journal of human genetics 1989;44(4):496-503.
1989: Helena Kääriäinen; J Jääskeläinen; Leena Kivisaari; Olli Koskimies; J Rapola; R Norio
Polycystic kidney disease in children: differential diagnosis between the dominantly and recessively inherited forms.
Progress in clinical and biological research 1989;305():55-9.
1988: Helena Kääriäinen; Olli Koskimies; R Norio
Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data.
Pediatric nephrology (Berlin, Germany) 1988;2(3):296-302.
1988: M Lindlöf; Helena Kääriäinen; Gert-Jan B van Ommen; Albert de La Chapelle
Microdeletions in patients with X-linked muscular dystrophy: molecular-clinical correlations.
Clinical genetics 1988;33(2):131-9.
1988: Helena Kääriäinen; J Jääskeläinen; Leena Kivisaari; Olli Koskimies; R Norio
Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomography.
Pediatric radiology 1988;18(1):45-50.
1987: Pertti Mustajoki; R Tenhunen; Katri Niemi; Y Nordmann; Helena Kääriäinen; Reijo Norio
Homozygous variegate porphyria. A severe skin disease of infancy.
Clinical genetics 1987;32(5):300-5.
1987: Helena Kääriäinen
Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.
Journal of medical genetics 1987;24(8):474-81.
1986: M Lindlöf; Helena Kääriäinen; K E Davies; A de la Chapelle
Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.
Journal of medical genetics 1986;23(6):560-72.
1985: S Karjalainen; M Teräsvirta; J Kärjä; Helena Kääriäinen
Usher's syndrome type III: ENG findings in four affected and six unaffected siblings.
The Journal of laryngology and otology 1985;99(1):43-8.
1983: S Karjalainen; M Teräsvirta; J Kärjä; Helena Kääriäinen
An unusual otological manifestation of Usher's syndrome in four siblings.
Clinical genetics 1983;24(4):273-9.