Literature DB >> 10991689

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

K Hampson, C G Woods, F Latif, T Webb.   

Abstract

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Year:  2000        PMID： 10991689      PMCID： PMC1734654          DOI： 10.1136/jmg.37.8.610

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


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  6 in total

Review 1.  Rett syndrome and the MECP2 gene.

Authors:  T Webb; F Latif
Journal:  J Med Genet       Date:  2001-04       Impact factor: 6.318

2.  Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis.

Authors:  Liron Abuhatzira; Kirill Makedonski; Yael Petel Galil; Eva Gak; Bruria Ben Zeev; Aharon Razin; Ruth Shemer
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

3.  Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

Authors:  S Kudo; Y Nomura; M Segawa; N Fujita; M Nakao; C Schanen; M Tamura
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

4.  Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

Authors:  I M Buyse; P Fang; K T Hoon; R E Amir; H Y Zoghbi; B B Roa
Journal:  Am J Hum Genet       Date:  2000-10-30       Impact factor: 11.043

5.  Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients.

Authors:  Parvaneh Karimzadeh; Majid Kheirollahi; Seyed Massoud Houshmand; Sepideh Dadgar; Omid Aryani; Omid Yaghini
Journal:  Iran J Child Neurol       Date:  2019

6.  Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Authors:  Xiaolan Fang; Kameryn M Butler; Fatima Abidi; Jennifer Gass; Arthur Beisang; Timothy Feyma; Robin C Ryther; Shannon Standridge; Peter Heydemann; Mary Jones; Richard Haas; David N Lieberman; Eric D Marsh; Tim A Benke; Steve Skinner; Jeffrey L Neul; Alan K Percy; Michael J Friez; Raymond C Caylor
Journal:  Mol Genet Genomic Med       Date:  2022-03-23       Impact factor: 2.473
  6 in total

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