Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program-Reference-Cited by-同舟云学术

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program

Published:2021-02-05 Issue:5 Volume:185 Page:1498-1503
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Jarmolowicz Anna I.¹^ORCID,Baker Emma K.²³⁴,Bartlett Essra¹,Francis David¹,Ling Ling²,Gamage Dinusha²,Delatycki Martin B.¹³,Godler David E.²³

Affiliation:

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

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

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

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

Funder

Financial Markets Foundation for Children

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62106

Reference33 articles.

1. The aberrant behavior checklist: A behavior rating scale for the assessment of treatment effects;Aman M. G.;American Journal of Mental Deficits,1985

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

3. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

4. High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome

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3. Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program;American Journal of Medical Genetics Part A;2021-02-05