Duplication 2p25 in a child with clinical features of CHARGE syndrome-Reference-Cited by-同舟云学术

Duplication 2p25 in a child with clinical features of CHARGE syndrome

Published:2016-02-06 Issue:5 Volume:170 Page:1148-1154
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sperry Ethan D.¹²,Schuette Jane L.¹³,van Ravenswaaij-Arts Conny M. A.⁴,Green Glenn E.⁵,Martin Donna M.¹²³

Affiliation:

1. Department of Human Genetics; The University of Michigan; Ann Arbor Michigan

2. Department of the Medical Scientist Training Program; The University of Michigan; Ann Arbor Michigan

3. Department of Pediatrics and Communicable Diseases; The University of Michigan; Ann Arbor Michigan

4. Department of Genetics; University of Groningen; University Medical Centre; Groningen The Netherlands

5. Department of Otolaryngology-Head and Neck Surgery; The University of Michigan; Ann Arbor Michigan

Funder

National Institutes of Health

Donita B. Sullivan, M.D. Research Professorship

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Phenotype of a patient with pure partial trisomy 2p(p23−>pter);Al-Saffar;Am J Med Genet,2000

2. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue;Aviram-Goldring;Am J Med Genet,2000

3. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis;Choi;Eur J Hum Genet,2015

4. The use of CGH in the analysis of constitutive de novo chromosome aberrations: Examples and comparison with other molecular-cytogenetic methods;Engels;Cytogenet Cell Genet,1999

5. The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors;Feng;Cell Stem Cell,2013

Cited by 10 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. CHARGE syndrome, from occurrence to treatment;Human Gene;2023-05

2. Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss;American Journal of Medical Genetics Part A;2022-11-11

3. Eyes on CHARGE syndrome: Roles of CHD7 in ocular development;Frontiers in Cell and Developmental Biology;2022-09-08

4. Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report;BMC Ophthalmology;2022-03-04

5. Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements;Balkan Journal of Medical Genetics;2020-11-01