Literature DB >> 22942102

Intellectual disability, oncogenes and tumour suppressor genes: the way forward?

M Bidart1, C Coutton.   

Abstract

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Year:  2012        PMID： 22942102     DOI： 10.1007/s12041-012-0154-6

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  16 in total

Review 1.  Maintaining appearances--the role of p53 in adult neurogenesis.

Authors:  Silvia Medrano; Heidi Scrable
Journal:  Biochem Biophys Res Commun       Date:  2005-06-10       Impact factor: 3.575

Review 2.  HRAS and the Costello syndrome.

Authors:  K A Rauen
Journal:  Clin Genet       Date:  2007-02       Impact factor: 4.438

Review 3.  Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.

Authors:  Charles Lee; A John Iafrate; Arthur R Brothman
Journal:  Nat Genet       Date:  2007-07       Impact factor: 38.330

4.  Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus.

Authors:  E Chabchoub; G Michils; J R Vermeesch; P De Cock; L Lagae; J P Fryns
Journal:  Genet Couns       Date:  2010

5.  Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum.

Authors:  Domenico D'Arca; Xudong Zhao; Wenming Xu; Nadya C Ramirez-Martinez; Antonio Iavarone; Anna Lasorella
Journal:  Proc Natl Acad Sci U S A       Date:  2010-03-15       Impact factor: 11.205

6.  REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma.

Authors:  Lucia Di Marcotullio; Elisabetta Ferretti; Enrico De Smaele; Beatrice Argenti; Claudia Mincione; Francesca Zazzeroni; Rita Gallo; Laura Masuelli; Maddalena Napolitano; Marella Maroder; Andrea Modesti; Felice Giangaspero; Isabella Screpanti; Edoardo Alesse; Alberto Gulino
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-12       Impact factor: 11.205

7.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Authors:  Guy Froyen; Mark Corbett; Joke Vandewalle; Irma Jarvela; Owen Lawrence; Cliff Meldrum; Marijke Bauters; Karen Govaerts; Lucianne Vandeleur; Hilde Van Esch; Jamel Chelly; Damien Sanlaville; Hans van Bokhoven; Hans-Hilger Ropers; Frederic Laumonnier; Enzo Ranieri; Charles E Schwartz; Fatima Abidi; Patrick S Tarpey; P Andrew Futreal; Annabel Whibley; F Lucy Raymond; Michael R Stratton; Jean-Pierre Fryns; Rodney Scott; Maarit Peippo; Marjatta Sipponen; Michael Partington; David Mowat; Michael Field; Anna Hackett; Peter Marynen; Gillian Turner; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

Review 8.  Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Authors:  Karen W Gripp; Angela E Lin
Journal:  Genet Med       Date:  2012-03       Impact factor: 8.822

9.  Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.

Authors:  A-C Thuresson; M-L Bondeson; C Edeby; P Ellis; C Langford; J P Dumanski; G Annerén
Journal:  Cytogenet Genome Res       Date:  2007       Impact factor: 1.636

10.  The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein.

Authors:  Xudong Zhao; Julian Ik-Tsen Heng; Daniele Guardavaccaro; Richeng Jiang; Michele Pagano; Francois Guillemot; Antonio Iavarone; Anna Lasorella
Journal:  Nat Cell Biol       Date:  2008-05-18       Impact factor: 28.824
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  1 in total

1.  Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

Authors:  Marie Bidart; Michèle El Atifi; Sarra Miladi; John Rendu; Véronique Satre; Pierre F Ray; Caroline Bosson; Françoise Devillard; Daphné Lehalle; Valérie Malan; Jeanne Amiel; Maria Antonietta Mencarelli; Margherita Baldassarri; Alessandra Renieri; Jill Clayton-Smith; Gaëlle Vieville; Julien Thevenon; Florence Amblard; François Berger; Pierre-Simon Jouk; Charles Coutton
Journal:  Genet Med       Date:  2016-12-01       Impact factor: 8.822
  1 in total

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