Literature DB >> 14556243

Genetic syndromes among individuals with mental retardation.

Roger E Stevenson1, Ashley M Procopio-Allen, Richard J Schroer, Julianne S Collins.   

Abstract

Individuals with mental retardation more commonly have malformations and other structural anomalies than individuals without mental retardation. In many cases, the associated anomalies comprise recognizable syndromes caused by genetic or environmental insults. To co-occurrence of structural anomalies with mental retardation thus assists in the diagnostic evaluation, particularly in infants and young children. The coexistence of structural and mental abnormalities also suggests that both originated in the embryonic period of development. Copyright 2003 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2003        PMID： 14556243     DOI： 10.1002/ajmg.a.20492

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  13 in total

1.  Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

Authors:  Ye Wu; Amy C Arai; Gavin Rumbaugh; Anand K Srivastava; Gillian Turner; Takashi Hayashi; Erika Suzuki; Yuwu Jiang; Lilei Zhang; Jayson Rodriguez; Jackie Boyle; Patrick Tarpey; F Lucy Raymond; Joke Nevelsteen; Guy Froyen; Mike Stratton; Andy Futreal; Jozef Gecz; Roger Stevenson; Charles E Schwartz; David Valle; Richard L Huganir; Tao Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-07       Impact factor: 11.205

Review 2.  Balanced translocations in mental retardation.

Authors:  Geert Vandeweyer; R Frank Kooy
Journal:  Hum Genet       Date:  2009-04-05       Impact factor: 4.132

3.  The phenotype of recurrent 10q22q23 deletions and duplications.

Authors:  Bregje W M van Bon; Jorune Balciuniene; Gary Fruhman; Sandesh Chakravarthy Sreenath Nagamani; Diane L Broome; Elizabeth Cameron; Danielle Martinet; Eliane Roulet; Sebastien Jacquemont; Jacques S Beckmann; Mira Irons; Lorraine Potocki; Brendan Lee; Sau Wai Cheung; Ankita Patel; Melissa Bellini; Angelo Selicorni; Roberto Ciccone; Margherita Silengo; Annalisa Vetro; Nine V Knoers; Nicole de Leeuw; Rolph Pfundt; Barry Wolf; Petr Jira; Swaroop Aradhya; Pawel Stankiewicz; Han G Brunner; Orsetta Zuffardi; Scott B Selleck; James R Lupski; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

4.  Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.

Authors:  Negin Parsamanesh; Hossein Safarpour; Shokoofe Etesam; Aazam Ahmadi Shadmehri; Ebrahim Miri-Moghaddam
Journal:  J Mol Neurosci       Date:  2019-08-14       Impact factor: 3.444

5.  Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Authors:  Olivier Hagens; Aline Dubos; Fatima Abidi; Gotthold Barbi; Laura Van Zutven; Maria Hoeltzenbein; Niels Tommerup; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans van Bokhoven; Jozef Gécz; Hélène Dollfus; Hans-Hilger Ropers; Charles E Schwartz; Rita de Cassia Stocco Dos Santos; Vera Kalscheuer; André Hanauer
Journal:  Hum Genet       Date:  2005-10-26       Impact factor: 4.132

6.  Homozygosity mapping in outbred families with mental retardation.

Authors:  Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Rolph Pfundt; Bregje W M van Bon; Nicole de Leeuw; Tjitske Kleefstra; Michèl A Willemsen; Ad Geurts van Kessel; Han G Brunner; Joris A Veltman; Hans van Bokhoven; Arjan P M de Brouwer; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

7.  A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.

Authors:  A Dheedene; M Maes; S Vergult; B Menten
Journal:  Mol Syndromol       Date:  2013-11-02

8.  Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Authors:  Claus Lenski; Fatima Abidi; Alfons Meindl; Alice Gibson; Matthias Platzer; R Frank Kooy; Herbert A Lubs; Roger E Stevenson; Juliane Ramser; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2004-04       Impact factor: 11.025

9.  Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.

Authors:  Philippe Labrune; Lucie Tosca; Narjes Armanet; Corinne Metay; Sophie Brisset; Georges Deschenes; Dominique Pineau; François M Petit; Federico Di Rocco; Michel Goossens; Gérard Tachdjian
Journal:  Mol Cytogenet       Date:  2015-02-01       Impact factor: 2.009

10.  A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Authors:  Andrew J Sharp; Heather C Mefford; Kelly Li; Carl Baker; Cindy Skinner; Roger E Stevenson; Richard J Schroer; Francesca Novara; Manuela De Gregori; Roberto Ciccone; Adam Broomer; Iris Casuga; Yu Wang; Chunlin Xiao; Catalin Barbacioru; Giorgio Gimelli; Bernardo Dalla Bernardina; Claudia Torniero; Roberto Giorda; Regina Regan; Victoria Murday; Sahar Mansour; Marco Fichera; Lucia Castiglia; Pinella Failla; Mario Ventura; Zhaoshi Jiang; Gregory M Cooper; Samantha J L Knight; Corrado Romano; Orsetta Zuffardi; Caifu Chen; Charles E Schwartz; Evan E Eichler
Journal:  Nat Genet       Date:  2008-02-17       Impact factor: 38.330
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