Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients-Reference-Cited by-同舟云学术

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

Published:2015-12 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Carreira Isabel Marques,Ferreira Susana Isabel,Matoso Eunice,Pires Luís Miguel,Ferrão José,Jardim Ana,Mascarenhas Alexandra,Pinto Marta,Lavoura Nuno,Pais Cláudia,Paiva Patrícia,Simões Lúcia,Caramelo Francisco,Ramos Lina,Venâncio Margarida,Ramos Fabiana,Beleza Ana,Sá Joaquim,Saraiva Jorge,de Melo Joana Barbosa

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0202-z

Reference19 articles.

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2. Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet. 2006;79:500–13.

3. Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, et al. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007;2, e327.

4. Rodríguez-Revenga L, Vallespín E, Madrigal I, Palomares M, Mur A, García-Miñaur S, et al. A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability. Gene. 2013;521:82–6.

5. D'Arrigo S, Gavazzi F, Alfei E, Zuffardi O, Montomoli C, Corso B, Buzzi E, Sciacca FL, Bulgheroni S, Riva D, Pantaleoni C. The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children. J Child Neurol 2015.

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