Position effect modifying gene expression in a patient with ring chromosome 14-Reference-Cited by-同舟云学术

Position effect modifying gene expression in a patient with ring chromosome 14

Published:2015-08-28 Issue:2 Volume:57 Page:183-187
ISSN:1234-1983
Container-title:Journal of Applied Genetics
language:en
Short-container-title:J Appl Genetics

Author:

Guilherme Roberta Santos,Moysés-Oliveira Mariana,Dantas Anelisa Gollo,Meloni Vera Ayres,Colovati Mileny Esbravatti,Kulikowski Leslie Domenici,Melaragno Maria Isabel

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s13353-015-0311-8.pdf

Reference23 articles.

1. Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41(3):359–364

2. Brock GJ, Charlton J, Bird A (1999) Densely methylated sequences that are preferentially localized at telomere-proximal regions of human chromosomes. Gene 240(2):269–277

3. Castermans D, Thienpont B, Volders K, Crepel A, Vermeesch JR, Schrander-Stumpel CT, Van de Ven WJ, Steyaert JG, Creemers JW, Devriendt K (2008) Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. Eur J Hum Genet 16(10):1187–1192

4. Egecioglu D, Brickner JH (2011) Gene positioning and expression. Curr Opin Cell Biol 23(3):338–345

5. Feuk L (2012) Genomic structural variants: methods and protocols. Humana Press, New York, 386 pp

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