An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment-Reference-Cited by-同舟云学术

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An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment

Published:2017-03-22 Issue:4 Volume:173 Page:1124-1127
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shirai Kentaro¹,Higashi Yuya²,Shimojima Keiko³⁴,Yamamoto Toshiyuki³⁴

Affiliation:

1. Department of Pediatrics; Tsuchiura Kyodo Hospital; Tsuchiura Ibaraki Japan

2. Department of Neonatology; Tsuchiura Kyodo Hospital; Tsuchiura Ibaraki Japan

3. Institute of Medical Genetics; Tokyo Women's Medical University; Tokyo Japan

4. Tokyo Women's Medical University Institute for Integrated Medical Sciences; Tokyo Japan

Funder

Japan Society for the Promotion of Science (JSPS) KAKENHI

Japan Agency for Medical Research and Development (AMED)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Characterization of the Bex gene family in humans, mice, and rats;Alvarez;Gene,2005

2. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on brain dysmyelinating disease;Cailloux;European Journal Human Genetics,2000

3. Bex3 dimerization regulates NGF-dependent neuronal survival and differentiation by enhancing trkA gene transcription;Calvo;Journal of Neuroscience,2015

4. Familial 1.1Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients;Grillo;European Journal of Medical Genetics,2010

5. Neurotrophins: Roles in neuronal development and function;Huang;Annual Review of Neuroscience,2001

Cited by 6 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. Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait;Human Genome Variation;2024-05-15

2. Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review;BMC Medical Genomics;2023-05-22

3. Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation;Congenital Anomalies;2020-12-13

4. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions;Genome Biology;2020-10-26

5. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome;Human Mutation;2019-11-14

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