Literature DB >> 11807877

In-frame deletion in MECP2 causes mild nonspecific mental retardation.

Helger G Yntema, Astrid R Oudakker, Tjitske Kleefstra, Ben C J Hamel, Hans van Bokhoven, Jamel Chelly, Vera M Kalscheuer, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard, Claude Moraine.   

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Year:  2002        PMID： 11807877     DOI： 10.1002/ajmg.10085

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  14 in total

1.  The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Authors:  Jeffrey L Neul; Timothy A Benke; Eric D Marsh; Steven A Skinner; Jonathan Merritt; David N Lieberman; Shannon Standridge; Timothy Feyma; Peter Heydemann; Sarika Peters; Robin Ryther; Mary Jones; Bernhard Suter; Walter E Kaufmann; Daniel G Glaze; Alan K Percy
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2018-12-07       Impact factor: 3.568

2.  A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

Authors:  Sabine M Klauck; Susan Lindsay; Kim S Beyer; Miranda Splitt; John Burn; Annemarie Poustka
Journal:  Am J Hum Genet       Date:  2002-02-15       Impact factor: 11.025

3.  The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

Authors:  Holly N Cukier; Joycelyn M Lee; Deqiong Ma; Juan I Young; Vera Mayo; Brittany L Butler; Sandhya S Ramsook; Joseph A Rantus; Alexander J Abrams; Patrice L Whitehead; Harry H Wright; Ruth K Abramson; Jonathan L Haines; Michael L Cuccaro; Margaret A Pericak-Vance; John R Gilbert
Journal:  Autism Res       Date:  2012-10-10       Impact factor: 5.216

4.  Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Authors:  T Kleefstra; M Smidt; M J G Banning; A R Oudakker; H Van Esch; A P M de Brouwer; W Nillesen; E A Sistermans; B C J Hamel; D de Bruijn; J-P Fryns; H G Yntema; H G Brunner; B B A de Vries; H van Bokhoven
Journal:  J Med Genet       Date:  2005-04       Impact factor: 6.318

Review 5.  MECP2 mutations in males.

Authors:  Laurent Villard
Journal:  J Med Genet       Date:  2007-03-09       Impact factor: 6.318

6.  Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

Authors:  Jiong Tao; Hilde Van Esch; M Hagedorn-Greiwe; Kirsten Hoffmann; Bettina Moser; Martine Raynaud; Jürgen Sperner; Jean-Pierre Fryns; Eberhard Schwinger; Jozef Gécz; Hans-Hilger Ropers; Vera M Kalscheuer
Journal:  Am J Hum Genet       Date:  2004-12       Impact factor: 11.025

7.  Adult Phenotypes in Angelman- and Rett-Like Syndromes.

Authors:  M H Willemsen; J H M Rensen; H M J van Schrojenstein-Lantman de Valk; B C J Hamel; T Kleefstra
Journal:  Mol Syndromol       Date:  2012-01-13

8.  Rett Syndrome.

Authors:  E E J Smeets; K Pelc; B Dan
Journal:  Mol Syndromol       Date:  2012-04-16

9.  A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome.

Authors:  Jan P Buschdorf; Wolf H Strätling
Journal:  J Mol Med (Berl)       Date:  2003-11-15       Impact factor: 4.599

10.  Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Authors:  Sarah A Shoichet; Kirsten Hoffmann; Corinna Menzel; Udo Trautmann; Bettina Moser; Maria Hoeltzenbein; Bernard Echenne; Michael Partington; Hans Van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans-Dieter Rott; Hans-Hilger Ropers; Vera M Kalscheuer
Journal:  Am J Hum Genet       Date:  2003-11-18       Impact factor: 11.025
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