Developmental

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Malin Kvarnung, Daniel Nilsson, Anna Lindstrand, G Christoph Korenke, Samuel C C Chiang, Elisabeth Blennow, Markus Bergmann, Tommy Stödberg, Outi Mäkitie, Britt-Marie Anderlid, Yenan T Bryceson, Magnus Nordenskjöld, Ann Nordgren

Journal of Medical Genetics Aug 2013, 50 (8) 521-528; DOI: 10.1136/jmedgenet-2013-101654
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, Chela T James, Miriam Schmidts, Mitali Patel, Elisabeth M Rosser, Chiara Bacchelli, Philip L Beales, Peter J Scambler, Stephen L Hart, Jeannette E Danke-Roelse, John J Sloper, Sarah Hull, Claire Hogg, Richard D Emes, Gerard Pals, Anthony T Moore, Eddie M K Chung, UK10K, Hannah M Mitchison

Journal of Medical Genetics Jan 2014, 51 (1) 61-67; DOI: 10.1136/jmedgenet-2013-101938
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update
Ana Beleza-Meireles, Jill Clayton-Smith, Jorge M Saraiva, May Tassabehji

Journal of Medical Genetics Oct 2014, 51 (10) 635-645; DOI: 10.1136/jmedgenet-2014-102476
Mutations in TMEM231 cause Joubert syndrome in French Canadians
Myriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, Lysanne Patry, Luis H Ospina, Michael I Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A Rouleau, Jacek Majewski, Jacques L Michaud

Journal of Medical Genetics Oct 2012, 49 (10) 636-641; DOI: 10.1136/jmedgenet-2012-101132
The clinical significance of small copy number variants in neurodevelopmental disorders
Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Azzarello-Burri, Deborah Bartholdi, Katharina Steindl, Marie Vincent, Joana Cobilanschi, Heinrich Sticht, Rosa Baldinger, Regina Reissmann, Irene Sudholt, Christian T Thiel, Arif B Ekici, André Reis, Emilia K Bijlsma, Joris Andrieux, Anne Dieux, David FitzPatrick, Susanne Ritter, Alessandra Baumer, Beatrice Latal, Barbara Plecko, Oskar G Jenni, Anita Rauch

Journal of Medical Genetics Oct 2014, 51 (10) 677-688; DOI: 10.1136/jmedgenet-2014-102588
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
Juwon Kim, Hong-Hee Won, Yoonjung Kim, Jong Rak Choi, Nae Yu, Kyung-A Lee

Journal of Medical Genetics Oct 2015, 52 (10) 706-709; DOI: 10.1136/jmedgenet-2015-103001
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Anais Drielsma, Chaim Jalas, Nicolas Simonis, Julie Désir, Natalia Simanovsky, Isabelle Pirson, Orly Elpeleg, Marc Abramowicz, Simon Edvardson

Journal of Medical Genetics Nov 2012, 49 (11) 708-712; DOI: 10.1136/jmedgenet-2012-101190
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
Audrey Putoux, Sheela Nampoothiri, Nicole Laurent, Valérie Cormier-Daire, Philip L Beales, Albert Schinzel, Deborah Bartholdi, Caroline Alby, Sophie Thomas, Nadia Elkhartoufi, Amale Ichkou, Julie Litzler, Arnold Munnich, Férechté Encha-Razavi, Rajesh Kannan, Laurence Faivre, Nathalie Boddaert, Anita Rauch, Michel Vekemans, Tania Attié-Bitach

Journal of Medical Genetics Nov 2012, 49 (11) 713-720; DOI: 10.1136/jmedgenet-2012-101016
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Jean-Benoît Courcet, Laurence Faivre, Perrine Malzac, Alice Masurel-Paulet, Estelle Lopez, Patrick Callier, Laetitia Lambert, Martine Lemesle, Julien Thevenon, Nadège Gigot, Laurence Duplomb, Clémence Ragon, Nathalie Marle, Anne-Laure Mosca-Boidron, Frédéric Huet, Christophe Philippe, Anne Moncla, Christel Thauvin-Robinet

Journal of Medical Genetics Dec 2012, 49 (12) 731-736; DOI: 10.1136/jmedgenet-2012-101251
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
David Hunt, Richard J Leventer, Cas Simons, Ryan Taft, Kathryn J Swoboda, Mary Gawne-Cain, the DDD study, Alex C Magee, Peter D Turnpenny, Diana Baralle

Journal of Medical Genetics Dec 2014, 51 (12) 806-813; DOI: 10.1136/jmedgenet-2014-102798

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