A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology-Reference-Cited by-同舟云学术

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A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

Published:2009 Issue:1 Volume:124 Page:94-101
ISSN:1424-8581
Container-title:Cytogenetic and Genome Research
language:en
Short-container-title:Cytogenet Genome Res

Author:

Talseth-Palmer B.A.,Bowden N.A.,Meldrum C.,Nicholl J.,Thompson E.,Friend K.,Liebelt J.,Bratkovic D.,Haan E.,Yu S.,Scott R.J.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics,Molecular Biology

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature;Global Medical Genetics;2024-01

2. Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing;Cytogenetic and Genome Research;2019

3. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances;Epigenomics;2016-06

4. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency;Clinica Chimica Acta;2013-11

5. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype;Clinical Genetics;2012-12-20

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