MECP2 Mutations and Rett Syndrome Phenotypes

MECP2 Mutations and Rett Syndrome Phenotypes

Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.

書誌詳細
第一著者:	J Gordon Millichap
フォーマット:	論文
言語:	English
出版事項:	Pediatric Neurology Briefs Publishers 2000-05-01
シリーズ:	Pediatric Neurology Briefs
主題:	rett syndrome milder phenotypes x chromosome inactivation
オンライン･アクセス:	https://www.pediatricneurologybriefs.com/articles/1936

類似資料

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
著者:: Satoru Takahashi, 等
出版事項: (2020-03-01)

Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
著者:: J Gordon Millichap
出版事項: (2006-08-01)

Broadening the Phenotype Spectrum of MECP2 Variants in Men
著者:: Johannes Lötjönen, 等
出版事項: (2025-02-01)

Rett Syndrome without MECP2 Mutation in a Pakistani Girl
著者:: Rubina Dad, 等
出版事項: (2020-04-01)

Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome
著者:: Dumitriu Simona, 等
出版事項: (2013-12-01)

Analysis of X‐inactivation status in a Rett syndrome natural history study cohort
著者:: Xiaolan Fang, 等
出版事項: (2022-05-01)

Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1992-07-01)

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
著者:: Silvia Vidal, 等
出版事項: (2019-08-01)

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome
著者:: Jenny Downs, 等
出版事項: (2024-10-01)

Mitochondrial DNA Mutation in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1998-01-01)

Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes
著者:: Rylan Allemang-Grand, 等
出版事項: (2017-06-01)

Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome
著者:: Hisham Megahed, 等
出版事項: (2015-03-01)

Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials
著者:: Adele Gaspar Lopes, 等
出版事項: (2024-01-01)

Neuroanatomy in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1997-02-01)

Polysomnography in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1994-09-01)

Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1988-07-01)

Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1989-06-01)

Genotype-phenotype correlation in Brazillian Rett syndrome patients Correlação genótipo-fenótipo em pacientes brasileiras com síndrome de Rett
著者:: Fernanda T. de Lima, 等
出版事項: (2009-09-01)

Neurochemical Markers in Rett’s Syndrome
著者:: J Gordon Millichap
出版事項: (1991-12-01)

Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
著者:: Friederike Ehrhart, 等
出版事項: (2016-11-01)

Rett Syndrome Symptomatology in Adult Males
著者:: J Gordon Millichap
出版事項: (1991-05-01)

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
著者:: Laura Dean Heckman, 等
出版事項: (2014-06-01)

Rett Syndrome: Growth and Nutrition
著者:: J Gordon Millichap
出版事項: (1992-12-01)

Rett Syndrome and Heller Dementia
著者:: J Gordon Millichap
出版事項: (1989-12-01)

Motor Disorders in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1990-02-01)

Biogenic Amines in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1989-01-01)

MRI Neuroanatomy of Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1993-08-01)

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance
著者:: Hyeong-Min Lee, 等
出版事項: (2020-11-01)

The Molecular Functions of MeCP2 in Rett Syndrome Pathology
著者:: Osman Sharifi, 等
出版事項: (2021-04-01)

Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene
著者:: Tingyu Rong, 等
出版事項: (2022-01-01)

The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
著者:: Boudewien A Brand, 等
出版事項: (2021-07-01)

Visual Evoked Potentials in Rett Syndrome
著者:: J. Gordon Millichap
出版事項: (2015-11-01)

Early Brain Growth in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1997-07-01)

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
著者:: Ivan Y. Iourov, 等
出版事項: (2018-12-01)

Purine Metabolism and Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1996-01-01)

Monoamine Metabolites in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (1988-03-01)

Rett Syndrome; Diagnostic Criteria
著者:: J Gordon Millichap
出版事項: (1988-04-01)

Patterns of Regression in Rett Syndrome
著者:: J Gordon Millichap
出版事項: (2002-10-01)

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
著者:: Eric Frankel, 等
出版事項: (2023-05-01)

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
著者:: Yongxin Wen, 等
出版事項: (2023-04-01)