Literature DB >> 12746405

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

H Gill, J P Cheadle, J Maynard, N Fleming, S Whatley, T Cranston, E M Thompson, H Leonard, M Davis, J Christodoulou, O Skjeldal, F Hanefeld, A Kerr, A Tandy, D Ravine, A Clarke.   

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Year:  2003        PMID： 12746405      PMCID： PMC1735465          DOI： 10.1136/jmg.40.5.380

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


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  6 in total

1.  Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Authors:  Hayley Archer; Julie Evans; Helen Leonard; Lyn Colvin; David Ravine; John Christodoulou; Sarah Williamson; Tony Charman; Mark E S Bailey; Julian Sampson; Nicholas de Klerk; Angus Clarke
Journal:  J Med Genet       Date:  2006-08-11       Impact factor: 6.318

2.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Authors:  Linda S Weaving; John Christodoulou; Sarah L Williamson; Kathie L Friend; Olivia L D McKenzie; Hayley Archer; Julie Evans; Angus Clarke; Gregory J Pelka; Patrick P L Tam; Catherine Watson; Hooshang Lahooti; Carolyn J Ellaway; Bruce Bennetts; Helen Leonard; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2004-10-18       Impact factor: 11.025

3.  Consensus guidelines on managing Rett syndrome across the lifespan.

Authors:  Cary Fu; Dallas Armstrong; Eric Marsh; David Lieberman; Kathleen Motil; Rochelle Witt; Shannon Standridge; Paige Nues; Jane Lane; Tristen Dinkel; Monica Coenraads; Jana von Hehn; Mary Jones; Katie Hale; Bernhard Suter; Daniel Glaze; Jeffrey Neul; Alan Percy; Timothy Benke
Journal:  BMJ Paediatr Open       Date:  2020-09-13

4.  Rett syndrome molecular diagnosis and implications in genetic counseling.

Authors:  M Noruzinia; M T Akbari; M Ghofrani; H Sheikhha
Journal:  Indian J Hum Genet       Date:  2007-09

5.  Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.

Authors:  Jafar Nasiri; Mansoor Salehi; Majid Hosseinzadeh; Mahdi Zamani; Shirin Fattahpour; Omid Aryani; Esmat Fazel Najafabadi; Maryam Jabarzadeh; Sara Asadi; Tahereh Gholamrezapour; Maryam Sedghi; Fatemeh Ghorbani
Journal:  Iran J Child Neurol       Date:  2019

Review 6.  Stress-Sensitive Protein Rac1 and Its Involvement in Neurodevelopmental Disorders.

Authors:  Xiaohui Wang; Dongbin Liu; Fangzhen Wei; Yue Li; Xuefeng Wang; Linjie Li; Guan Wang; Shuli Zhang; Lei Zhang
Journal:  Neural Plast       Date:  2020-11-24       Impact factor: 3.599
  6 in total

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