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Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families

JOURNAL ARTICLE published May 1999 in European Journal of Human Genetics

Authors: Sophie Laberge | Pierre Labauge | Emmanuelle Maréchal | Jacqueline Maciazek | Elisabeth Tournier-Lasserve

https://doi.org/10.1038/sj.ejhg.5200324 Actions

The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers

JOURNAL ARTICLE published February 2015 in European Journal of Human Genetics

Authors: Vania Pereira | Carmen Tomas | Juan J Sanchez | Denise Syndercombe-Court | António Amorim | Leonor Gusmão | Maria João Prata | Niels Morling

https://doi.org/10.1038/ejhg.2014.90 Actions

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms

JOURNAL ARTICLE published January 2011 in European Journal of Human Genetics

Authors: Ryan M Smith | Houda Alachkar | Audrey C Papp | Danxin Wang | Deborah C Mash | Jen-Chyong Wang | Laura J Bierut | Wolfgang Sadee

https://doi.org/10.1038/ejhg.2010.120 Actions

Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA

JOURNAL ARTICLE published September 2014 in European Journal of Human Genetics

Authors: Renata Bordeira-Carriço | Daniel Ferreira | Denisa D Mateus | Hugo Pinheiro | Ana Paula Pêgo | Manuel AS Santos | Carla Oliveira

https://doi.org/10.1038/ejhg.2013.292 Actions

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

JOURNAL ARTICLE published August 2012 in European Journal of Human Genetics

Authors: Helen AL Tuppen | Karin Naess | Nancy G Kennaway | Mazhor Al-Dosary | Nicole Lesko | John W Yarham | Helene Bruhn | Rolf Wibom | Inger Nennesmo | Richard G Weleber | Emma L Blakely | Robert W Taylor | Robert McFarland

https://doi.org/10.1038/ejhg.2012.44 Actions

TBL1Y: a new gene involved in syndromic hearing loss

JOURNAL ARTICLE published March 2019 in European Journal of Human Genetics

Authors: Mariateresa Di Stazio | Chiara Collesi | Diego Vozzi | Wei Liu | Mike Myers | Anna Morgan | Pio Adamo D′Adamo | Giorgia Girotto | Elisa Rubinato | Mauro Giacca | Paolo Gasparini

https://doi.org/10.1038/s41431-018-0282-4 Actions

Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus

JOURNAL ARTICLE published September 2010 in European Journal of Human Genetics

Authors: David L Morris | Amy L Roberts | Abigail S Witherden | Ruth Tarzi | Paula Barros | John C Whittaker | Terence H Cook | Timothy J Aitman | Timothy J Vyse

https://doi.org/10.1038/ejhg.2010.56 Actions

New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East

JOURNAL ARTICLE published January 2008 in European Journal of Human Genetics

Authors: Mark G Thomas | Ian Barnes | Michael E Weale | Abigail L Jones | Peter Forster | Neil Bradman | Peter P Pramstaller

https://doi.org/10.1038/sj.ejhg.5201906 Actions

Y-chromosome diversity in Sweden – A long-time perspective

JOURNAL ARTICLE published August 2006 in European Journal of Human Genetics

Authors: Andreas O Karlsson | Thomas Wallerström | Anders Götherström | Gunilla Holmlund

https://doi.org/10.1038/sj.ejhg.5201651 Actions

Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain

JOURNAL ARTICLE published March 2021 in European Journal of Human Genetics

Research funded by Wellcome Trust (087576,057559,084060,087576,087576,087576,057559,072974,088262,098051,072974,088262) | British Heart Foundation (PG/16/49/32176,PG/16/49/32176) | Leverhulme Trust (F/00 212/AM,F/00 212/AM,F/00 212/AM)

Authors: Gurdeep Matharu Lall | Maarten H. D. Larmuseau | Jon H. Wetton | Chiara Batini | Pille Hallast | Tunde I. Huszar | Daniel Zadik | Sigurd Aase | Tina Baker | Patricia Balaresque | Walter Bodmer | Anders D. Børglum | Peter de Knijff | Hayley Dunn | Stephen E. Harding | Harald Løvvik | Berit Myhre Dupuy | Horolma Pamjav | Andreas O. Tillmar | Maciej Tomaszewski | Chris Tyler-Smith | Marta Pereira Verdugo | Bruce Winney | Pragya Vohra | Joanna Story | Turi E. King | Mark A. Jobling

https://doi.org/10.1038/s41431-020-00747-z Actions

Genomics elucidates both common and rare disease aetiology

JOURNAL ARTICLE published December 2021 in European Journal of Human Genetics

Authors: Alisdair McNeill

https://doi.org/10.1038/s41431-021-01001-w Actions

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

JOURNAL ARTICLE published May 2017 in European Journal of Human Genetics

Authors: Francesco Testa | Mariaelena Filippelli | Raffaella Brunetti-Pierri | Giuseppina Di Fruscio | Valentina Di Iorio | Mariateresa Pizzo | Annalaura Torella | Maria Rosaria Barillari | Vincenzo Nigro | Nicola Brunetti-Pierri | Francesca Simonelli | Sandro Banfi

https://doi.org/10.1038/ejhg.2017.23 Actions

Estimation of the number of inherited prion disease mutation carriers in the UK

JOURNAL ARTICLE published October 2022 in European Journal of Human Genetics

Authors: Rosie Corbie | Tracy Campbell | Lee Darwent | Peter Rudge | John Collinge | Simon Mead

https://doi.org/10.1038/s41431-022-01132-8 Actions

Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration

JOURNAL ARTICLE published October 2013 in European Journal of Human Genetics

Authors: Daniel Ardeljan | Catherine B Meyerle | Elvira Agron | Jie Jin Wang | Paul Mitchell | Emily Y Chew | Jing Zhao | Arvydas Maminishkis | Chi-Chao Chan | Jingsheng Tuo

https://doi.org/10.1038/ejhg.2013.14 Actions

Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13

JOURNAL ARTICLE published July 2007 in European Journal of Human Genetics

Authors: Tim Becker | Silke Jansen | Stephanie Tamm | Thomas F Wienker | Burkhard Tümmler | Frauke Stanke

https://doi.org/10.1038/sj.ejhg.5201825 Actions

A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene

JOURNAL ARTICLE published July 2012 in European Journal of Human Genetics

Authors: Håkan Lövkvist | Sandra Olsson | Peter Höglund | Olle Melander | Christina Jern | Marketa Sjögren | Gunnar Engström | J Gustav Smith | Bo Hedblad | Gunnar Andsberg | Hossein Delavaran | Katarina Jood | Ulf Kristoffersson | Holger Luthman | Bo Norrving | Arne Lindgren

https://doi.org/10.1038/ejhg.2012.4 Actions

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

JOURNAL ARTICLE published March 2016 in European Journal of Human Genetics

Authors: Claudio Asencio | María A Rodríguez-Hernandez | Paz Briones | Julio Montoya | Ana Cortés | Sonia Emperador | Angela Gavilán | Eduardo Ruiz-Pesini | Dèlia Yubero | Raquel Montero | Mercedes Pineda | María M O'Callaghan | María Alcázar-Fabra | Leonardo Salviati | Rafael Artuch | Plácido Navas

https://doi.org/10.1038/ejhg.2015.112 Actions

Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications

JOURNAL ARTICLE published April 2006 in European Journal of Human Genetics

Authors: Henry T Lynch | C Richard Boland | Gordon Gong | Trudy G Shaw | Patrick M Lynch | Riccardo Fodde | Jane F Lynch | Albert de la Chapelle

https://doi.org/10.1038/sj.ejhg.5201584 Actions

Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs)

JOURNAL ARTICLE published June 2015 in European Journal of Human Genetics

Authors: Nathália C Campanella | Ricardo Celestino | Ana Pestana | Cristovam Scapulatempo-Neto | Antonio Talvane de Oliveira | Maria José Brito | António Gouveia | José Manuel Lopes | Denise Peixoto Guimarães | Paula Soares | Rui M Reis

https://doi.org/10.1038/ejhg.2014.195 Actions

Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon

JOURNAL ARTICLE published March 2011 in European Journal of Human Genetics

Authors: Marc Haber | The Genographic Consortium | Daniel E Platt | Danielle A Badro | Yali Xue | Mirvat El-Sibai | Maziar Ashrafian Bonab | Sonia C Youhanna | Stephanie Saade | David F Soria-Hernanz | Ajay Royyuru | R Spencer Wells | Chris Tyler-Smith | Pierre A Zalloua

https://doi.org/10.1038/ejhg.2010.177 Actions
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