Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia-Reference-Cited by-同舟云学术

Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

Published:2005-04 Issue:4 Volume:76 Page:663-671
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hill-Harfe Katherine L.,Kaplan Lee,Stalker Heather J.,Zori Roberto T.,Pop Ramona,Scherer Gerd,Wallace Margaret R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference55 articles.

1. Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions;Bagheri-Fam;Genomics,2001

2. SOX9 directly regulates the type-II collagen gene;Bell;Nat Genet,1997

3. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination;Bernard;Hum Mol Genet,2003

4. Genetic evidence equating SRY and the testis-determining factor;Berta;Nature,1990

5. A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse;Bishop;Nat Genet,2000

Cited by 41 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. Functional categorization of gene regulatory variants that cause Mendelian conditions;Human Genetics;2024-03-04

2. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants;2019-07-18

3. A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9;Molecular Case Studies;2018-04-25

4. SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements;Nucleus;2017-03-04

5. Non-coding variation in disorders of sex development;Clinical Genetics;2017-01-27