Literature DB >> 11768391

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

V Bourdon, C Philippe, T Bienvenu, B Koenig, M Tardieu, J Chelly, P Jonveaux.   

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Year:  2001        PMID： 11768391      PMCID： PMC1734775          DOI： 10.1136/jmg.38.12.867

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


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  6 in total

1.  Cholesterol metabolism is altered in Rett syndrome: a study on plasma and primary cultured fibroblasts derived from patients.

Authors:  Marco Segatto; Laura Trapani; Ilenia Di Tunno; Claudia Sticozzi; Giuseppe Valacchi; Joussef Hayek; Valentina Pallottini
Journal:  PLoS One       Date:  2014-08-12       Impact factor: 3.240

Review 2.  Genetic Causes and Modifiers of Autism Spectrum Disorder.

Authors:  Lauren Rylaarsdam; Alicia Guemez-Gamboa
Journal:  Front Cell Neurosci       Date:  2019-08-20       Impact factor: 5.505

3.  Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Authors:  Qingping Zhang; Xiaoxu Yang; Jiaping Wang; Jiarui Li; Qixi Wu; Yongxin Wen; Ying Zhao; Xiaoying Zhang; He Yao; Xiru Wu; Shujie Yu; Liping Wei; Xinhua Bao
Journal:  Genet Med       Date:  2018-11-08       Impact factor: 8.822

Review 4.  Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease.

Authors:  Shervin Pejhan; Mojgan Rastegar
Journal:  Biomolecules       Date:  2021-01-08

Review 5.  Somatic Mosaicism and Autism Spectrum Disorder.

Authors:  Alissa M D'Gama
Journal:  Genes (Basel)       Date:  2021-10-26       Impact factor: 4.096

6.  Single cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases.

Authors:  Ivan Y Iourov; Svetlana G Vorsanova; Yuri B Yurov
Journal:  Curr Genomics       Date:  2012-09       Impact factor: 2.236
  6 in total

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