Literature DB >> 11746016

Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects.

H J Stalker, B A Gray, R T Zori.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11746016     DOI： 10.1002/ajmg.1559

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  4 in total

1.  Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Authors:  Katherine L Hill-Harfe; Lee Kaplan; Heather J Stalker; Roberto T Zori; Ramona Pop; Gerd Scherer; Margaret R Wallace
Journal:  Am J Hum Genet       Date:  2005-04       Impact factor: 11.025

2.  Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Authors:  Gopalrao V N Velagaleti; Gabriel A Bien-Willner; Jill K Northup; Lillian H Lockhart; Judy C Hawkins; Syed M Jalal; Marjorie Withers; James R Lupski; Pawel Stankiewicz
Journal:  Am J Hum Genet       Date:  2005-02-22       Impact factor: 11.025

3.  Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

Authors:  Junichiro Machida; Têmis M Félix; Jeffrey C Murray; Koh-ichiro Yoshiura; Mitsuyo Tanemura; Munefumi Kamamoto; Kazuo Shimozato; Shin-ichi Sonta; Takao Ono
Journal:  Cleft Palate Craniofac J       Date:  2009-02-02

4.  Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.

Authors:  Arnold H Menezes; Timothy W Vogel
Journal:  Childs Nerv Syst       Date:  2008-03-28       Impact factor: 1.475
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.