Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction-Reference-Cited by-同舟云学术

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

Published:2018-06-07 Issue:6 Volume:9 Page:287
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Prawer Yael,Hunter Matthew^ORCID,Cronin Sara,Ling Ling,Aliaga Vera Solange,Fahey Michael,Gelfand Nikki,Oertel Ralph,Bartlett Essra,Francis David,Godler David

Funder

Financial Markets Foundation for Children

National Health and Medical Research Council

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

http://www.mdpi.com/2073-4425/9/6/287/pdf

Reference23 articles.

1. Advances in the Treatment of Fragile X Syndrome

2. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio

3. Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the American college of medical genetics. Quality assurance subcommittee of the laboratory practice committee;Maddalena;Genet. Med.,2001

4. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

5. Understanding the molecular basis of fragile X syndrome

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1. Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome;Expert Review of Molecular Diagnostics;2023-11-24

2. Mechanisms of Genome Instability in the Fragile X-Related Disorders;Genes;2021-10-17

3. Paternal retraction of a fragile X allele to normal size, showing normal function over two generations;American Journal of Medical Genetics Part A;2021-09-21

4. Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX;Genes;2021-05-24

5. Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families;Genes;2020-02-26