MECP2 duplication phenotype in symptomatic females: report of three further cases-Reference-Cited by-同舟云学术

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MECP2 duplication phenotype in symptomatic females: report of three further cases

Published:2014 Issue:1 Volume:7 Page:10
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Novara Francesca,Simonati Alessandro,Sicca Federico,Battini Roberta,Fiori Simona,Contaldo Annarita,Criscuolo Lucia,Zuffardi Orsetta,Ciccone Roberto

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference31 articles.

1. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

2. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

3. Functional disomy of the Xq28 chromosome region

4. Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

5. Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

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1. Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies;Journal of Clinical Medicine;2024-07-09

2. Nodding syndrome: A role for environmental biotoxins that dysregulate MECP2 expression?;Journal of the Neurological Sciences;2024-07

3. IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation;Journal of Clinical Immunology;2022-11-02

4. Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale;Orphanet Journal of Rare Diseases;2022-09-14

5. A brief history of MECP2 duplication syndrome: 20-years of clinical understanding;Orphanet Journal of Rare Diseases;2022-03-21

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