Incidence of Fragile X syndrome in Ireland-Reference-Cited by-同舟云学术

Incidence of Fragile X syndrome in Ireland

Published:2017-02-03 Issue:3 Volume:173 Page:678-683
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

O'Byrne James J.¹,Sweeney Michael¹,Donnelly Deirdre E.²,Lambert Deborah M.³,Beattie Eleanor D.²,Gervin Celine M.²,Barton David E.⁴,Lynch Sally A.³⁵

Affiliation:

1. Department of Clinical Genetics; Our Lady's Children's Hospital Crumlin; Crumlin Dublin Ireland

2. Northern Ireland Regional Genetics Centre; Belfast Health and Social Care Trust/City Hospital; Belfast Northern Ireland

3. National Rare Diseases Office; Mater Misericordiae Hospital; Dublin Ireland

4. Department of Clinical Genetics and University College Dublin School of Medicine and Medical Sciences; Our Lady's Children's Hospital Crumlin; Crumlin Dublin Ireland

5. Academic Centre on Rare Diseases; University College Dublin School of Medicine and Medical Sciences; Belfield Dublin Ireland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Newborn carrier and early childhood screening recommendations for Fragile X;Abrams;Paediatics,2012

2. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA;Coffee;Am J Hum Genet,2009

3. Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles;Dombrowski;Hum Mol Genet,2002

4. Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population;Fernandez-Carvajal;J Mol Diagn,2009b

Cited by 6 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. FRAGILE X SYNDROME AND PREMUTATION‐ASSOCIATED DISORDERS;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

2. Genetics of premature ovarian insufficiency;Human Reproductive Genetics;2020

3. Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey;Anticancer Research;2019-12

4. Genetic cluster of fragile X syndrome in a Colombian district;Journal of Human Genetics;2018-01-29

5. Fragile X syndrome and fragile X-associated disorders;F1000Research;2017-12-08