A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations-Reference-Cited by-同舟云学术

A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations

Published:2015-07-11 Issue:4 Volume:16 Page:287-298
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Córdova-Fletes Carlos,Domínguez Ma. Guadalupe,Delint-Ramirez Ilse,Martínez-Rodríguez Herminia G.,Rivas-Estilla Ana María,Barros-Núñez Patricio,Ortiz-López Rocío,Neira Vivian Alejandra

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-015-0452-2.pdf

Reference49 articles.

1. Bugge M, Bruun-Petersen G, Brøndum-Nielsen K et al (2000) Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet 37:858–865

2. Yue Y, Grossmann B, Holder SE, Haaf T (2005) De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay. Hum Genet 117:1–8

3. De Gregori M, Ciccone R, Magini P et al (2007) Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44:750–762

4. Stankiewicz P, Beaudet A (2007) Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182–192

5. Borsani G, Piovani G, Zoppi N et al (2008) Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype. Eur J Med Genet 51:292–302

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