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A dominant vimentin variant causes a rare syndrome with premature aging

JOURNAL ARTICLE published September 2020 in European Journal of Human Genetics

Authors: Benjamin Cogné | Jamal-Eddine Bouameur | Gaëlle Hayot | Xenia Latypova | Sundararaghavan Pattabiraman | Amandine Caillaud | Karim Si-Tayeb | Thomas Besnard | Sébastien Küry | Caroline Chariau | Anne Gaignerie | Laurent David | Philippe Bordure | Daniel Kaganovich | Stéphane Bézieau | Christelle Golzio | Thomas M. Magin | Bertrand Isidor

https://doi.org/10.1038/s41431-020-0583-2 Actions

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

JOURNAL ARTICLE published August 2017 in European Journal of Human Genetics

Authors: Muhammad Umair | Khadim Shah | Bader Alhaddad | Tobias B Haack | Elisabeth Graf | Tim M Strom | Thomas Meitinger | Wasim Ahmad

https://doi.org/10.1038/ejhg.2017.83 Actions

Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients

JOURNAL ARTICLE published July 2015 in European Journal of Human Genetics

Authors: Fabio Sallustio | on behalf of the European IgAN Consortium | Sharon N Cox | Grazia Serino | Claudia Curci | Francesco Pesce | Giuseppe De Palma | Aikaterini Papagianni | Dimitrios Kirmizis | Mario Falchi | Francesco P Schena

https://doi.org/10.1038/ejhg.2014.208 Actions

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome

JOURNAL ARTICLE published December 2020 in European Journal of Human Genetics

Authors: Sehime Gulsun Temel | Mahmut Cerkez Ergoren | Elena Manara | Stefano Paolacci | Gulten Tuncel | Seref Gul | Matteo Bertelli

https://doi.org/10.1038/s41431-020-0673-1 Actions

Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin–utrophin double knockout mice

JOURNAL ARTICLE published December 2017 in European Journal of Human Genetics

Authors: Bruno Ghirotto Nunes | Flávio Vieira Loures | Heloisa Maria Siqueira Bueno | Erica Baroni Cangussu | Ernesto Goulart | Giuliana Castello Coatti | Elia Garcia Caldini | Antonio Condino-Neto | Mayana Zatz

https://doi.org/10.1038/s41431-017-0017-y Actions

Expanded reproductive carrier screening—how can we do the most good and cause the least harm?

JOURNAL ARTICLE published May 2019 in European Journal of Human Genetics

Authors: Martin B. Delatycki | Nigel Laing | Edwin Kirk

https://doi.org/10.1038/s41431-019-0356-y Actions

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

JOURNAL ARTICLE published October 1999 in European Journal of Human Genetics

Authors: Serpil Eraslan | Hülya Kayserili | Memnune Yüksel Apak | Betül Kirdar

https://doi.org/10.1038/sj.ejhg.5200370 Actions

Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease

JOURNAL ARTICLE published April 1999 in European Journal of Human Genetics

Authors: Martina F Kronenberg | Hans-Jürgen Menzel | Georg Ebersbach | Gregor K Wenning | Elisabeth Luginger | Martin Gollner | Gerhard Ransmayr | Gerd Utermann | Werner Poewe | Florian Kronenberg

https://doi.org/10.1038/sj.ejhg.5200297 Actions

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency

JOURNAL ARTICLE published September 2013 in European Journal of Human Genetics

Authors: Lars Schlotawa | Karthikeyan Radhakrishnan | Matthias Baumgartner | Regula Schmid | Bernhard Schmidt | Thomas Dierks | Jutta Gärtner

https://doi.org/10.1038/ejhg.2012.291 Actions

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

JOURNAL ARTICLE published September 2017 in European Journal of Human Genetics

Authors: Louise Crivelli | Virginie Bubien | Natalie Jones | Jennifer Chiron | Françoise Bonnet | Emmanuelle Barouk-Simonet | Patrice Couzigou | Nicolas Sevenet | Frédéric Caux | Michel Longy

https://doi.org/10.1038/ejhg.2017.81 Actions

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly

JOURNAL ARTICLE published December 2018 in European Journal of Human Genetics

Research funded by Radboud Universitair Medisch Centrum (Radboudumc) (n.a.)

Authors: Dyah W. Karjosukarso | Frans P. M. Cremers | C. Erik van Nouhuys | Rob W. J. Collin

https://doi.org/10.1038/s41431-018-0243-y Actions

Subject Index Vol. 4,1996

JOURNAL ARTICLE published 1996 in European Journal of Human Genetics

https://doi.org/10.1159/000472235 Actions

The VODAN IN: support of a FAIR-based infrastructure for COVID-19

JOURNAL ARTICLE published June 2020 in European Journal of Human Genetics

Authors: Barend Mons

https://doi.org/10.1038/s41431-020-0635-7 Actions

NMNAT1 variants cause cone and cone-rod dystrophy

JOURNAL ARTICLE published March 2018 in European Journal of Human Genetics

Authors: Benjamin M. Nash | Richard Symes | Himanshu Goel | Marcel E. Dinger | Bruce Bennetts | John R. Grigg | Robyn V. Jamieson

https://doi.org/10.1038/s41431-017-0029-7 Actions

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

JOURNAL ARTICLE published September 2009 in European Journal of Human Genetics

Authors: Lisa J Strug | Tara Clarke | Theodore Chiang | Minchen Chien | Zeynep Baskurt | Weili Li | Ruslan Dorfman | Bhavna Bali | Elaine Wirrell | Steven L Kugler | David E Mandelbaum | Steven M Wolf | Patricia McGoldrick | Huntley Hardison | Edward J Novotny | Jingyue Ju | David A Greenberg | James J Russo | Deb K Pal

https://doi.org/10.1038/ejhg.2008.267 Actions

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

JOURNAL ARTICLE published January 1998 in European Journal of Human Genetics

Authors: Eric Legius | Els Schollen | Gert Matthijs | Jean-Pierre Fryns

https://doi.org/10.1038/sj.ejhg.5200150 Actions

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

JOURNAL ARTICLE published 15 March 2024 in European Journal of Human Genetics

Authors: Rebecca Kriukelis | Michael T. Gabbett | Rachael Beswick | Aideen M. McInerney-Leo | Carlie Driscoll | Karen Liddle

https://doi.org/10.1038/s41431-024-01584-0 Actions

Do regulatory regions matter in FOXG1 duplications?

JOURNAL ARTICLE published April 2013 in European Journal of Human Genetics

Authors: Antonio Falace | Nicola Vanni | Antonello Mallamaci | Pasquale Striano | Federico Zara

https://doi.org/10.1038/ejhg.2012.142 Actions

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

JOURNAL ARTICLE published November 2018 in European Journal of Human Genetics

Authors: Caroline Michot | Carine Le Goff | Edward Blair | Patricia Blanchet | Yline Capri | Brigitte Gilbert-Dussardier | Alice Goldenberg | Alex Henderson | Bertrand Isidor | Hulya Kayserili | Esther Kinning | Martine Le Merrer | Stanislas Lyonnet | Sylvie Odent | Pelin Ozlem Simsek-Kiper | Chloé Quelin | Ravi Savarirayan | Marleen Simon | Miranda Splitt | Judith M.A. Verhagen | Alain Verloes | Arnold Munnich | Geneviève Baujat | Valérie Cormier-Daire

https://doi.org/10.1038/s41431-018-0135-1 Actions

Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson–Fabry disease

JOURNAL ARTICLE published February 2021 in European Journal of Human Genetics

Authors: Cosimo Andrea Stamerra | Martina De Feo | Vanessa Castelli | Michele d’Angelo | Annamaria Cimini | Davide Grassi | Claudio Ferri

https://doi.org/10.1038/s41431-020-00721-9 Actions
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