Tissue mosaicism, <scp> <i>FMR1</i> </scp> expression and intellectual functioning in males with fragile X syndrome-Reference-Cited by-同舟云学术

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

Published:2022-11-08 Issue:2 Volume:191 Page:357-369
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:

Baker Emma K.¹²³,Arpone Marta¹²⁴^ORCID,Bui Minh⁵^ORCID,Kraan Claudine M.¹²^ORCID,Ling Ling¹,Francis David⁶,Hunter Mathew F.⁷⁸^ORCID,Rogers Carolyn⁹,Field Michael J.⁹,Santa María Lorena¹⁰,Faundes Víctor¹⁰^ORCID,Curotto Bianca¹⁰,Morales Paulina¹⁰,Trigo Cesar¹⁰,Salas Isabel¹⁰,Alliende Angelica M.¹⁰,Amor David J.²¹¹^ORCID,Godler David E.¹²^ORCID

Affiliation:

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

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

3. School of Psychology and Public Health La Trobe University Bundoora Victoria Australia

4. Brain and Mind, Murdoch Children's Research Institute Royal Children's Hospital Parkville Victoria Australia

5. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health University of Melbourne Melbourne Victoria Australia

6. Victorian Clinical Genetics Services and Murdoch Children's Research Institute The Royal Children's Hospital Melbourne Victoria Australia

7. Monash Genetics Monash Health Clayton Victoria Australia

8. Department of Paediatrics Monash University Clayton Victoria Australia

9. Genetics of Learning Disability Service Hunter Genetics Waratah New South Wales Australia

10. Molecular and Cytogenetics Laboratory INTA University of Chile Santiago Chile

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

Funder

Financial Markets Foundation for Children

Murdoch Children's Research Institute

National Health and Medical Research Council

Royal Children's Hospital Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63027

Reference42 articles.

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

2. Direct molecular analysis of FMR‐1 gene mutation in patients with fragile Xq syndrome and their families;Alliende M. A.;Revista Medica de Chile,1998

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

4. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

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

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