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The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate

JOURNAL ARTICLE published March 2008 in European Journal of Human Genetics

Authors: Ingrid P C Krapels | the Eurocran Gene–Environment Interaction Group | Judith Raijmakers-Eichhorn | Wilbert H M Peters | Hennie M J Roelofs | Frank Ras | Régine P M Steegers-Theunissen

https://doi.org/10.1038/sj.ejhg.5201973 Actions

Erratum: Parental mosaicism of JAG1 mutations in families with Alagille syndrome

JOURNAL ARTICLE published July 2001 in European Journal of Human Genetics

Authors: Joannis Giannakudis | Albrecht Röpke | Annegret Kujat | Malgorzata Krajewska-Walasek | Helen Hughes | Jean-Pierre Fryns | Agnes Bankier | David Amor | Mike Schlicker | Ingo Hansmann

https://doi.org/10.1038/sj.ejhg.5200671 Actions

Genetic discrimination: Too few data

JOURNAL ARTICLE published January 2003 in European Journal of Human Genetics

Authors: Margaret F Otlowski | Sandra D Taylor | Kristine K Barlow-Stewart

https://doi.org/10.1038/sj.ejhg.5200910 Actions

Replication of reported linkages for dyslexia and spelling and suggestive evidence for novel regions on chromosomes 4 and 17

JOURNAL ARTICLE published February 2007 in European Journal of Human Genetics

Authors: Timothy C Bates | Michelle Luciano | Anne Castles | Max Coltheart | Margaret J Wright | Nicholas G Martin

https://doi.org/10.1038/sj.ejhg.5201739 Actions

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1)

JOURNAL ARTICLE published January 2002 in European Journal of Human Genetics

Authors: Sylvie Jacquot | Maria Zeniou | Renaud Touraine | André Hanauer

https://doi.org/10.1038/sj.ejhg.5200738 Actions

Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia

JOURNAL ARTICLE published September 2019 in European Journal of Human Genetics

Research funded by Eesti Teadusagentuur (PRG243,PUT1339,PRG243) | EC | European Regional Development Fund (2014-2020.4.01.16-0771,2014-2020.4.01.15-0012,2014-2020.4.01.15-0012) | Ministry of Education and Research | Estonian Research Competency Council (IUT24-1,IUT24-1,IUT24-1,IUT24-1,IUT24-1,IUT24-1)

Authors: Natalia Balinova | Helen Post | Alena Kushniarevich | Rodrigo Flores | Monika Karmin | Hovhannes Sahakyan | Maere Reidla | Ene Metspalu | Sergey Litvinov | Murat Dzhaubermezov | Vita Akhmetova | Rita Khusainova | Phillip Endicott | Elza Khusnutdinova | Keemya Orlova | Elza Bakaeva | Irina Khomyakova | Nailya Spitsina | Rena Zinchenko | Richard Villems | Siiri Rootsi

https://doi.org/10.1038/s41431-019-0399-0 Actions

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

JOURNAL ARTICLE published January 2006 in European Journal of Human Genetics

Authors: Reetta Jalkanen | Ewa Pronicka | Henna Tyynismaa | Andre Hanauer | Roxanne Walder | Tiina Alitalo

https://doi.org/10.1038/sj.ejhg.5201515 Actions

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

JOURNAL ARTICLE published 11 April 2024 in European Journal of Human Genetics

Authors: Andrew Fleming | Miranda Galey | Lizi Briggs | Matthew Edwards | Claire Hogg | Shibu John | Sam Wilkinson | Ellie Quinn | Ranjit Rai | Tom Burgoyne | Andy Rogers | Mitali P. Patel | Paul Griffin | Steven Muller | Siobhan B. Carr | Michael R. Loebinger | Jane S. Lucas | Anand Shah | Ricardo Jose | Hannah M. Mitchison | Amelia Shoemark | Danny E. Miller | Deborah J. Morris-Rosendahl

https://doi.org/10.1038/s41431-024-01599-7 Actions

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

JOURNAL ARTICLE published March 2002 in European Journal of Human Genetics

Authors: Lena Elisabeth Hjermind | Lene Moria Werdelin | Sven Asger Sørensen

https://doi.org/10.1038/sj.ejhg.5200782 Actions

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

JOURNAL ARTICLE published January 2014 in European Journal of Human Genetics

Authors: Michelle B Polan | Matthew T Pastore | Katherine Steingass | Sayaka Hashimoto | Devon L Thrush | Robert Pyatt | Shalini Reshmi | Julie M Gastier-Foster | Caroline Astbury | Kim L McBride

https://doi.org/10.1038/ejhg.2013.99 Actions

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

JOURNAL ARTICLE published July 2011 in European Journal of Human Genetics

Authors: Jessica L Mester | Amanda K Tilot | Lisa A Rybicki | Thomas W Frazier | Charis Eng

https://doi.org/10.1038/ejhg.2011.20 Actions

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

JOURNAL ARTICLE published March 2008 in European Journal of Human Genetics

Authors: Mette Gilling | Marlene Briciet Lauritsen | Morten Møller | Karen Friis Henriksen | Astrid Vicente | Guiomar Oliveira | Christina Cintin | Hans Eiberg | Paal Skyt Andersen | Ole Mors | Thomas Rosenberg | Karen Brøndum-Nielsen | Rodney M J Cotterill | Claes Lundsteen | Hans-Hilger Ropers | Reinhard Ullmann | Iben Bache | Zeynep Tümer | Niels Tommerup

https://doi.org/10.1038/sj.ejhg.5201985 Actions

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing

JOURNAL ARTICLE published January 2021 in European Journal of Human Genetics

Research funded by U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (P01HD093363,R01GM120609) | Foundation for the National Institutes of Health (P01HD093363,P01HD093363,R01GM120609)

Authors: Jiayao Wang | Priyanka R. Ahimaz | Somaye Hashemifar | Julie Khlevner | Joseph A. Picoraro | William Middlesworth | Mahmoud M. Elfiky | Jianwen Que | Yufeng Shen | Wendy K. Chung

https://doi.org/10.1038/s41431-020-0680-2 Actions

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

JOURNAL ARTICLE published March 1999 in European Journal of Human Genetics

Authors: Anne Moncla | Perrine Malzac | Marie-Antoinette Voelckel | Pascal Auquier | Lydie Girardot | Marie-Genevieve Mattei | Nicole Philip | Jean-François Mattei | Marc Lalande | Marie-Odile Livet

https://doi.org/10.1038/sj.ejhg.5200258 Actions

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

JOURNAL ARTICLE published February 2022 in European Journal of Human Genetics

Research funded by EC | Horizon 2020 Framework Programme (779257,779257) | ZonMw (015014066,843002608)

Authors: Vyne van der Schoot | Lonneke Haer-Wigman | Ilse Feenstra | Femke Tammer | Anke J. M. Oerlemans | Martine P. A. van Koolwijk | Frans van Agt | Yvonne H. J. M. Arens | Han G. Brunner | Lisenka E. L. M. Vissers | Helger G. Yntema

https://doi.org/10.1038/s41431-021-00964-0 Actions

Deletion and duplication screening in the DMD gene using MLPA

JOURNAL ARTICLE published November 2005 in European Journal of Human Genetics

Authors: Tanja Lalic | Rolf H A M Vossen | Jordy Coffa | Jan P Schouten | Marija Guc-Scekic | Danijela Radivojevic | Marina Djurisic | Martÿn H Breuning | Stefan J White | Johan T den Dunnen

https://doi.org/10.1038/sj.ejhg.5201465 Actions

Identification of novel USH2A mutations: implications for the structure of USH2A protein

JOURNAL ARTICLE published July 2000 in European Journal of Human Genetics

Authors: Bo Dreyer | Lisbeth Tranebjærg | Thomas Rosenberg | Michael D Weston | William J Kimberling | Øivind Nilssen

https://doi.org/10.1038/sj.ejhg.5200491 Actions

HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort

JOURNAL ARTICLE published May 2008 in European Journal of Human Genetics

Authors: Jana V van Vliet-Ostaptchouk | N Charlotte Onland-Moret | Timon W van Haeften | Lude Franke | Clara C Elbers | Ronit Shiri-Sverdlov | Yvonne T van der Schouw | Marten H Hofker | Cisca Wijmenga

https://doi.org/10.1038/sj.ejhg.5202008 Actions

Genetic Services in Hungary

JOURNAL ARTICLE published 1997 in European Journal of Human Genetics

Authors: A.E. Czeizel

https://doi.org/10.1159/000484843 Actions

DNA Diagnostics of the Marfan Syndrome: Application of Amplifîable Polymorphie Markers

JOURNAL ARTICLE published 1994 in European Journal of Human Genetics

Authors: T. Rantamäki | L. Lönnqvist | L. Karttunen | K. Kainulainen | L. Peltonen

https://doi.org/10.1159/000472343 Actions
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