Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab-Reference-Cited by-同舟云学术

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Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab

Published:2016-09-02 Issue:9 Volume:7 Page:59
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Rzońca Sylwia,Gos Monika,Szopa Daniel,Sielska-Rotblum Danuta,Landowska Aleksandra,Szpecht-Potocka Agnieszka,Milewski Michał^ORCID,Czekajska Jolanta,Abramowicz Anna,Obersztyn Ewa,Maciejko Dorota,Mazurczak Tadeusz,Bal Jerzy

Funder

National Science Centre Poland

Publisher

MDPI AG

Subject

Genetics(clinical),Genetics

Link

http://www.mdpi.com/2073-4425/7/9/59/pdf

Reference43 articles.

1. FMR1 and the fragile X syndrome: Human genome epidemiology review

2. Origins of the fragile X syndrome mutation.

3. Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

4. Co-occurring conditions associated withFMR1gene variations: Findings from a national parent survey

5. Molecular functions of the mammalian fragile X mental retardation protein: Insights into mental retardation and synaptic plasticity;Bagni,2013

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals;Singapore Medical Journal;2021-03

2. Molecular analysis of FMR1 gene in a population in Southern Brazil: Comparison of four methods;Practical Laboratory Medicine;2020-08

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