A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2-Reference-Cited by-同舟云学术

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A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2

Published:2013-11-20 Issue:1 Volume:164 Page:213-219
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Okamoto Nobuhiko¹,Fujii Tatsuya²,Tanaka Junko³,Saito Kazumasa⁴,Matsui Takeshi⁴,Harada Naoki⁴

Affiliation:

1. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

2. Department of Pediatrics; Shiga Medical Center for Children; Moriyama Shiga Japan

3. Tanaka-Kitaumeda Clinic; Osaka Japan

4. Department of Molecular Genetic Research; Mitsubishi Chemical Medience Corporation; Tokyo Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity;Bachmann-Gagescu;Genet Med,2010

2. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2;Ballif;Nat Genet,2007

3. 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2;Barber;Eur J Hum Genet,2013

4. Further characterization of the new microdeletion syndrome of 16p11.2-p12.2;Battaglia;Am J Med Genet A,2009

5. Large, rare chromosomal deletions associated with severe early-onset obesity;Bochukova;Nature,2010

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1. Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature;European Journal of Medical Genetics;2020-10

2. A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System—A Close Look at Chromosome 15;International Journal of Molecular Sciences;2020-03-09

3. Microarray analysis in pregnancies with isolated unilateral kidney agenesis;Pediatric Research;2018-02-07

4. First-Trimester Crown-Rump Length and Risk of Chromosomal Aberrations—A Systematic Review and Meta-analysis;Obstetrical & Gynecological Survey;2017-10

5. Human gene copy number variation and infectious disease;Human Genetics;2014-06-05

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