Paternal retraction of a fragile X allele to normal size, showing normal function over two generations-Reference-Cited by-同舟云学术

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

Published:2021-09-21 Issue:1 Volume:188 Page:304-309
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Bartlett Essra¹,Archibald Alison D.¹²³,Francis David¹,Ling Ling⁴,Thomas Rob¹,Chandler Gabrielle¹,Ward Lisa¹,O'Farrell Gemma¹,Pandelache Alison¹,Delatycki Martin B.¹²³,Bennetts Bruce H.⁵⁶,Ho Gladys⁵⁶,Fisk Katrina⁵,Baker Emma K.⁴²⁷,Amor David J.¹²⁸,Godler David E.⁴²^ORCID

Affiliation:

1. Victorian Clinical Genetics Services Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Victoria Australia

2. Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics University of Melbourne Melbourne Victoria Australia

3. Bruce Lefroy Centre Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Victoria Australia

4. Diagnosis and Development Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Victoria Australia

5. Sydney Genome Diagnostics—Molecular Genetics Children's Hospital at Westmead Sydney New South Wales Australia

6. Discipline of Genetic Medicine Sydney Medical School, University of Sydney Sydney New South Wales Australia

7. School of Psychology and Public Health La Trobe University Melbourne Victoria Australia

8. Neurodisability and Rehabilitation Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Victoria Australia

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62500

Reference27 articles.

1. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

2. Paternal transmission of a FMR1 full mutation allele

3. Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X

4. A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders

5. FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome

Cited by 1 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. The polyG diseases: a new disease entity;Acta Neuropathologica Communications;2022-05-31