Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing-Reference-Cited by-同舟云学术

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Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

Published:2012 Issue:1 Volume:136 Page:15-20
ISSN:1424-859X
Container-title:Cytogenetic and Genome Research
language:en
Short-container-title:Cytogenet Genome Res

Author:

Vlckova M.,Trkova M.,Zemanova Z.,Hancarova M.,Novotna D.,Raskova D.,Puchmajerova A.,Drabova J.,Zmitkova Z.,Tan Y.,Sedlacek Z.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference21 articles.

1. Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues

2. Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

3. Interstitial Deletion of Proximal 8q Including Part of the Centromere from Unbalanced Segregation of a Paternal Deletion/Marker Karyotype with Neocentromere Formation at 8p22

4. A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

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1. Adhesion G Protein-Coupled Receptors as Drug Targets for Neurological Diseases;Trends in Pharmacological Sciences;2019-04

2. The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports;European Journal of Human Genetics;2018-06-08

3. Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia;Clinical Case Reports;2017-04-26

4. A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15;American Journal of Medical Genetics Part A;2016-10-14

5. A de novo Chromosomal Abnormality in Cri du Chat Syndrome;The Indian Journal of Pediatrics;2013-07-31

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