Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-0659-z.pdf
Reference40 articles.
1. D’Angelo CS, Gajecka M, Kim CA, Gentles AJ, Glotzbach CD, Shaffer LG, et al. Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Hum Genet. 2009;125:551–63.
2. Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, et al. Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. Am J Med Genet A. 2008;146A:2891–7.
3. Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, et al. Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints. Am J Med Genet A. 2010;152A:3074–83.
4. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003;72:1200–12.
5. Greco M, Ferrara P, Farello G, Striano P, Verrotti A. Electroclinical features of epilepsy associated with 1p36 deletion syndrome: a review. Epilepsy Res. 2018;139:92–101.
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1. Microcephaly Gene Mcph1 Deficiency Induces p19ARF-Dependent Cell Cycle Arrest and Senescence;International Journal of Molecular Sciences;2024-04-23
2. Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt;American Journal of Medical Genetics Part A;2023-05-02
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