Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio-Reference-Cited by-同舟云学术

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Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

Published:2018-07 Issue:1 Volume:89 Page:3-11
ISSN:1695-4033
Container-title:Anales de Pediatría
language:es
Short-container-title:Anales de Pediatría

Author:

Castells-Sarret Neus,Cueto-González Anna M.,Borregan Mar,López-Grondona Fermina,Miró Rosa,Tizzano Eduardo,Plaja Alberto

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference36 articles.

1. Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society;Shevell;Neurology.,2003

2. The epidemiology of autism spectrum disorders;Newschaffer;Annu Rev Public Health.,2007

3. Congenital malformations;Corsello;J Matern Neonatal Med.,2012

4. Etiology of mental retardation in children referred to a tertiary care center: A prospective study;Van Karnebeek;Am J Ment Retard.,2005

5. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet.,2010

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2. Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies;European Journal of Human Genetics;2024-01-26

3. Molecular tools for the characterization of seizure susceptibility in genetic rodent models of epilepsy;Epilepsy & Behavior;2021-08

4. Fenotipo clínico mixto de deleción y duplicación de la región del síndrome de Sotos: microdeleción 5q35.2-q35.3 detectada por microarreglo de hibridación genómica comparativa;Boletín Médico del Hospital Infantil de México;2021-07-29

5. Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders;npj Genomic Medicine;2021-03-25

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