De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia-Reference-Cited by-同舟云学术

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De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia

Published:2011-05 Issue:3 Volume:54 Page:361-364
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Magri Chiara,Piovani Giovanna,Pilotta Alba,Michele Traversa,Buzi Fabio,Barlati Sergio

Funder

Cytogenetics and Molecular Genetics Laboratory (LCGM)

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference10 articles.

1. “GenotypeColour”: colour visualisation of SNPs and CNVs;Barlati;BMC. Bioinformatics.,2009

2. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review;Boles;Am. J. Med. Genet.,1995

3. An olfactory sensory map develops in the absence of normal projection neurons or GABAergic interneurons;Bulfone;Neuron,1998

4. European Cytogeneticists Association Register of Unbalanced chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities;Feenstra;Eur. J. Med. Genet.,2006

5. ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency;Fiorini;J. Allergy Clin. Immunol.,2009

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1. Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness;Cytogenetic and Genome Research;2022

2. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature;European Journal of Human Genetics;2020-01-31

3. A 2q24.2 microdeletion containingTANKas novel candidate gene for intellectual disability;American Journal of Medical Genetics Part A;2019-02-25

4. 2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia;International Journal of Pediatric Otorhinolaryngology;2018-06

5. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause;Hormone Research in Paediatrics;2017-11-09

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