Literature DB >> 15173251

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

F Kammoun1, N de Roux, O Boespflug-Tanguy, L Vallée, R Seng, M Tardieu, P Landrieu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15173251      PMCID： PMC1735791          DOI： 10.1136/jmg.2003.014480

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  8 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.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Authors:  Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Journal:  Am J Hum Genet       Date:  2005-07-29       Impact factor: 11.025

3.  Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Authors:  H L Archer; S D Whatley; J C Evans; D Ravine; P Huppke; A Kerr; D Bunyan; B Kerr; E Sweeney; S J Davies; W Reardon; J Horn; K D MacDermot; R A Smith; A Magee; A Donaldson; Y Crow; G Hermon; Z Miedzybrodzka; D N Cooper; L Lazarou; R Butler; J Sampson; D T Pilz; F Laccone; A J Clarke
Journal:  J Med Genet       Date:  2005-09-23       Impact factor: 6.318

Review 4.  MECP2 mutations in males.

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

5.  Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

Authors:  Konrad Oexle; Barbara Thamm-Mücke; Thomas Mayer; Sigrid Tinschert
Journal:  Eur J Pediatr       Date:  2004-11-19       Impact factor: 3.183

6.  MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

Authors:  Mei-Rong Li; Hong Pan; Xin-Hua Bao; Yu-Zhi Zhang; Xi-Ru Wu
Journal:  J Hum Genet       Date:  2006-11-07       Impact factor: 3.172

7.  The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.

Authors:  Kyungsoo Ha; Yiping Shen; Tyler Graves; Cheol-Hee Kim; Hyung-Goo Kim
Journal:  Mol Cytogenet       Date:  2016-09-29       Impact factor: 2.009

8.  Novel and de novo mutations in pediatric refractory epilepsy.

Authors:  Jing Liu; Lili Tong; Shuangshuang Song; Yue Niu; Jun Li; Xiu Wu; Jie Zhang; Clement C Zai; Fang Luo; Jian Wu; Haiyin Li; Albert H C Wong; Ruopeng Sun; Fang Liu; Baomin Li
Journal:  Mol Brain       Date:  2018-09-05       Impact factor: 4.041
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.