Paternal transmission of a FMR1 full mutation allele-Reference-Cited by-同舟云学术

Paternal transmission of a FMR1 full mutation allele

Published:2017-08-16 Issue:10 Volume:173 Page:2795-2797
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alvarez‐Mora Maria Isabel¹²³,Guitart Miriam⁴,Rodriguez‐Revenga Laia¹²³,Madrigal Irene¹²³,Gabau Elisabeth⁴,Milà Montserrat¹²³^ORCID

Affiliation:

1. Biochemistry and Molecular Genetics DepartmentHospital ClinicBarcelonaSpain

2. CIBERER Instituto de Salud Carlos IIIMadridSpain

3. IDIBAPSBarcelonaSpain

4. Genetics Laboratory, UDIAT‐Centre Diagnostic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PTUniversitat Autònoma de BarcelonaSabadellSpain

Funder

Agència de Gestió d’Ajuts Universitaris i de Recerca

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38384

Reference7 articles.

1. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

2. Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes

3. Unstable Mutations in the FMR1 Gene and the Phenotypes

4. Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

5. CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

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2. Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?;International Journal of Molecular Sciences;2022-05-12

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. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2021-05

5. DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome;International Journal of Molecular Sciences;2020-10-19