Molecular and clinical delineation of the 17q22 microdeletion phenotype-Reference-Cited by-同舟云学术

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Published:2013-01-30 Issue:10 Volume:21 Page:1085-1092
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Laurell Tobias,Lundin Johanna,Anderlid Britt-Marie,Gorski Jerome L,Grigelioniene Giedre,Knight Samantha J L,Krepischi Ana C V,Nordenskjöld Agneta,Price Susan M,Rosenberg Carla,Turnpenny Peter D,Vianna-Morgante Angela M,Nordgren Ann

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012306.pdf

Reference37 articles.

1. Dallapiccola B, Mingarelli R, Digilio C, Obregon MG, Giannotti A : Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome. Clin Genet 1993; 43: 54–55.

2. Khalifa MM, MacLeod PM, Duncan AM : Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993; 44: 258–261.

3. Park JP, Moeschler JB, Berg SZ, Bauer RM, Wursterhill DH, Unique Denovo A : Interstitial Deletion Del(17) (Q21.3q23) in a Phenotypically Abnormal Infant. Clin Genet 1992; 41: 54–56.

4. Shimizu R, Mitsui N, Mori Y et al: Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. Am J Med Genet A 2008; 146A: 1458–1461.

5. Marsh AJ, Wellesley D, Burge D et al: Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. J Med Genet 2000; 37: 701–704.

Cited by 11 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. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability;The American Journal of Human Genetics;2023-05

2. A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant;Clinical Dysmorphology;2022-07-14

3. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development;PLOS Genetics;2021-08-06

4. Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder;Otology & Neurotology;2021-05-26

5. RNA Sequencing and Pathways Analyses of Middle Ear Epithelia From Patients With Otitis Media;The Laryngoscope;2021-04-12