Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis-Reference-Cited by-同舟云学术

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

Published:2014-04-28 Issue:1 Volume:40 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Caramaschi Elisa,Stanghellini Ilaria,Magini Pamela,Giuffrida Maria Grazia,Scullin Silvia,Giuva Tiziana,Bergonzini Patrizia,Guerra Azzurra,Paolucci Paolo,Percesepe Antonio

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1824-7288-40-39.pdf

Reference21 articles.

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5. Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB: Global increases in both common and rare copy number load associated with autism. Hum Mol Genet. 2013, 22 (14): 2870-2880. 10.1093/hmg/ddt136.

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1. Clinical utility and cost‐effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center;Journal of Genetic Counseling;2021-08-16

2. A 343 Italian cohort of patients analysed with array‐comparative genomic hybridization: unsolved problems and genetic counselling difficulties;Journal of Intellectual Disability Research;2021-08-02

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

4. Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances;Journal of Intellectual Disability Research;2019-03-21

5. Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy;Frontiers in Neurology;2018-11-19