Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination-Reference-Cited by-同舟云学术

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

Published:2012-06-21 Issue:9 Volume:57 Page:593-600
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Shimojima Keiko,Okamoto Nobuhiko,Suzuki Yume,Saito Mari,Mori Masato,Yamagata Tatanori,Momoi Mariko Y,Hattori Hideji,Okano Yoshiyuki,Hisata Ken,Okumura Akihisa,Yamamoto Toshiyuki

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201277.pdf

Reference18 articles.

1. Knight, S. J., Regan, R., Nicod, A., Horsley, S. W., Kearney, L., Homfray, T. et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354, 1676–1681 (1999).

2. Shimojima, K., Sugiura, C., Takahashi, H., Ikegami, M., Takahashi, Y., Ohno, K. et al. Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res. 89, 303–309 (2010).

3. Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-Oka, K., Chung, J., Gross, A. et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930 (2003).

4. Gentile, M., Di Carlo, A., Volpe, P., Pansini, A., Nanna, P., Valenzano, M. C. et al. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications. Am. J. Med. Genet. A 117A, 251–254 (2003).

5. Puthuran, M. J., Rowland-Hill, C. A., Simpson, J., Pairaudeau, P. W., Mabbott, J. L., Morris, S. M. et al. Chromosome 1q42 deletion and agenesis of the corpus callosum. Am. J. Med. Genet. A 138, 68–69 (2005).

Cited by 17 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. Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis;Biology Open;2023-10-10

2. Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis;2022-09-17

3. De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review;International Journal of Developmental Neuroscience;2021-06-16

4. Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay;Frontiers in Genetics;2021-05-20

5. Repair and Reconstruction of Telomeric and Subtelomeric Regions and Genesis of New Telomeres: Implications for Chromosome Evolution;BioEssays;2020-04