Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals-Reference-Cited by-同舟云学术

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Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals

Published:2008-03-15 Issue:6 Volume:146A Page:730-739
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

DeScipio Cheryl,Spinner Nancy B.,Kaur Maninder,Yaeger Dinah,Conlin Laura K.,Ambrosini Anthony,Hu Sufen,Shan Simei,Krantz Ian D.,Riethman Harold

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Recent segmental duplications in the human genome;Bailey;Science,2002

2. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome;Cargile;Am J Med Genet,2002

3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16;Daniels;Hum Mol Genet,2001

4. Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome;DeScipio;Am J Med Genet Part A,2005

5. Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements;DeScipio;Am J Med Genet Part A,2005

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1. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay;American Journal of Medical Genetics Part A;2024-02-29

2. 3p26.3 terminal deletions: a challenge for prenatal genetic counseling;Prenatal Diagnosis;2017-01-30

3. 19q13.33→qter trisomy in a girl with intellectual impairment and seizures;Meta Gene;2014-12

4. Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature;European Journal of Medical Genetics;2014-11

5. Copy Number Variation in the Horse Genome;PLoS Genetics;2014-10-23

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