Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes-Reference-Cited by-同舟云学术

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

Published:2011-07-08 Issue:8 Volume:155 Page:1906-1916
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rosenfeld Jill A.,Drautz Joanne Milisa,Clericuzio Carol L.,Cushing Tom,Raskin Salmo,Martin Judith,Tervo Raymond C.,Pitarque Jose A.,Nowak Dorota M.,Karolak Justyna A.,Lamb Allen N.,Schultz Roger A.,Ballif Blake C.,Bejjani Bassem A.,Gajecka Marzena,Shaffer Lisa G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34100/fullpdf

Reference76 articles.

1. Wnt pathways and upper limb anomalies;Al-Qattan;J Hand Surg Eur Vol,2010

2. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4;Alvarado;Am J Hum Genet,2010

3. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene;Alward;Am J Ophthalmol,1998

4. Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers;Arens;Am J Med Genet Part A,2004

5. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities;Ballif;Am J Hum Genet,2010

Cited by 30 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. Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions;Clinical Genetics;2024-06-24

2. Progressive Keratoconus in a Patient With Severe Pectus Excavatum and a Cartilage Oligomeric Matrix Protein Gene Mutation: A Case Report;Eye & Contact Lens: Science & Clinical Practice;2023-11-07

3. Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery;Cornea;2023-07-27

4. Construction and Analysis of a Diagnostic Model Based on Differential Expression Genes in Patients With Major Depressive Disorder;Frontiers in Psychiatry;2021-12-09

5. Genotype-phenotype correlation in clubfoot (talipes equinovarus);Journal of Medical Genetics;2021-11-15