Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.00995.x/fullpdf
Reference27 articles.
1. Cri du chat syndrome;Cerruti Mainardi;Orphanet J Rare Dis,2006
2. The cri du chat syndrome: epidemiology, cytogenetics, and clinical features;Niebuhr;Hum Genet,1978
3. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns;Higurashi;Brain Dev,1990
4. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation;Mainardi;J Med Genet,2001
5. FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome;Marinescu;Clin Genet,1999
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1. Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p;Molecular Syndromology;2022
2. 18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome;Neurocase;2021-05-04
3. DELETION 5p SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30
4. Cri-du-Chat Syndrome interactome network: Correlating genotypic variations to associated phenotypes;Gene Reports;2018-06
5. Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics;Molecular Cytogenetics;2018-05-09
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