New microdeletion and microduplication syndromes: a comprehensive review-Reference-Cited by-同舟云学术

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New microdeletion and microduplication syndromes: a comprehensive review

Published:2014 Issue:1 suppl 1 Volume:37 Page:210-219
ISSN:1415-4757
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Nevado Julián¹,Mergener Rafaella²,Palomares-Bralo María¹,Souza Karen Regina²,Vallespín Elena¹,Mena Rocío¹,Martínez-Glez Víctor¹,Mori María Ángeles¹,Santos Fernando¹,García-Miñaur Sixto¹,García-Santiago Fé¹,Mansilla Elena¹,Fernández Luis¹,Torres María Luisa de¹,Riegel Mariluce³,Lapunzina Pablo⁴

Affiliation:

1. Instituto de Salud Carlos III, Spain; Hospital Universitario la Paz, Spain

2. Universidade Federal do Rio Grande do Sul, Brazil

3. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil

4. Instituto de Salud Carlos III, Spain; Hospital Universitario la Paz, Spain; Hospital Universitario la Paz, Spain

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v37n1s1/v37n1s1a07.pdf

Reference15 articles.

1. Another patient with 12q13 microduplication;Bertoli M;Am J Med Genet A,2013

2. The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: Variable expressivity and genomic complexity;Deak KL;Clin Lab Med,2011

3. A phenotype map for 14q32.3 terminal deletions;Engels H;Am J Med Genet,2012

4. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome;Filges I;Am J Med Genet,2010

5. 2q23.1 microdeletion identified by array comparative genomic hybridisation: An emerging phenotype with Angelman-like features?;Jaillard S;J Med Genet,2009

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