Literature DB >> 27474217

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Timothy J Edwards1,2, Elliott H Sherr3, A James Barkovich4, Linda J Richards1,5.   

Abstract

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Year:  2016        PMID： 27474217      PMCID： PMC5840877          DOI： 10.1093/brain/aww171

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  18 in total

1.  Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Authors:  Juliane Hoyer; Arif B Ekici; Sabine Endele; Bernt Popp; Christiane Zweier; Antje Wiesener; Eva Wohlleber; Andreas Dufke; Eva Rossier; Corinna Petsch; Markus Zweier; Ina Göhring; Alexander M Zink; Gudrun Rappold; Evelin Schröck; Dagmar Wieczorek; Olaf Riess; Hartmut Engels; Anita Rauch; André Reis
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

Review 2.  Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review.

Authors:  Alexandros Sotiriadis; George Makrydimas
Journal:  Am J Obstet Gynecol       Date:  2011-12-27       Impact factor: 8.661

3.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

Review 4.  Prevalence of intellectual disability: a meta-analysis of population-based studies.

Authors:  Pallab K Maulik; Maya N Mascarenhas; Colin D Mathers; Tarun Dua; Shekhar Saxena
Journal:  Res Dev Disabil       Date:  2011-01-13

5.  ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Authors:  Cyril Mignot; Marie-Laure Moutard; Agnès Rastetter; Lucile Boutaud; Solveig Heide; Thierry Billette; Diane Doummar; Catherine Garel; Alexandra Afenjar; Aurélia Jacquette; Didier Lacombe; Alain Verloes; Christine Bole-Feysot; Patrick Nitschké; Cécile Masson; Anne Faudet; Fabien Lesne; Thierry Bienvenu; Caroline Alby; Tania Attié-Bitach; Christel Depienne; Caroline Nava; Delphine Héron
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

Review 6.  Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

Authors:  B J Fleck; A Pandya; L Vanner; K Kerkering; J Bodurtha
Journal:  Am J Med Genet       Date:  2001-02-15

7.  Major brain lesions detected on sonographic screening of apparently normal term neonates.

Authors:  L W Wang; C C Huang; T F Yeh
Journal:  Neuroradiology       Date:  2004-04-22       Impact factor: 2.804

8.  Agenesis of the corpus callosum in California 1983-2003: a population-based study.

Authors:  Hannah C Glass; Gary M Shaw; Chen Ma; Elliott H Sherr
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802

9.  Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

Authors:  Samin A Sajan; Liliana Fernandez; Sahar Esmaeeli Nieh; Eric Rider; Polina Bukshpun; Mari Wakahiro; Susan L Christian; Jean-Baptiste Rivière; Christopher T Sullivan; Jyotsna Sudi; Michael J Herriges; Alexander R Paciorkowski; A James Barkovich; Joseph T Glessner; Kathleen J Millen; Hakon Hakonarson; William B Dobyns; Elliott H Sherr
Journal:  PLoS Genet       Date:  2013-10-03       Impact factor: 5.917

10.  X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Authors:  H Hu; S A Haas; J Chelly; H Van Esch; M Raynaud; A P M de Brouwer; S Weinert; G Froyen; S G M Frints; F Laumonnier; T Zemojtel; M I Love; H Richard; A-K Emde; M Bienek; C Jensen; M Hambrock; U Fischer; C Langnick; M Feldkamp; W Wissink-Lindhout; N Lebrun; L Castelnau; J Rucci; R Montjean; O Dorseuil; P Billuart; T Stuhlmann; M Shaw; M A Corbett; A Gardner; S Willis-Owen; C Tan; K L Friend; S Belet; K E P van Roozendaal; M Jimenez-Pocquet; M-P Moizard; N Ronce; R Sun; S O'Keeffe; R Chenna; A van Bömmel; J Göke; A Hackett; M Field; L Christie; J Boyle; E Haan; J Nelson; G Turner; G Baynam; G Gillessen-Kaesbach; U Müller; D Steinberger; B Budny; M Badura-Stronka; A Latos-Bieleńska; L B Ousager; P Wieacker; G Rodríguez Criado; M-L Bondeson; G Annerén; A Dufke; M Cohen; L Van Maldergem; C Vincent-Delorme; B Echenne; B Simon-Bouy; T Kleefstra; M Willemsen; J-P Fryns; K Devriendt; R Ullmann; M Vingron; K Wrogemann; T F Wienker; A Tzschach; H van Bokhoven; J Gecz; T J Jentsch; W Chen; H-H Ropers; V M Kalscheuer
Journal:  Mol Psychiatry       Date:  2015-02-03       Impact factor: 15.992
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