Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome-Reference-Cited by-同舟云学术

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome

Published:2012-11-20 Issue:12 Volume:158A Page:3046-3053
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Conlin Laura K.,Kaur Maninder,Izumi Kosuke,Campbell Lindsey,Wilkens Alisha,Clark Dinah,Deardorff Matthew A.,Zackai Elaine H.,Pallister Phillip,Hakonarson Hakon,Spinner Nancy B.,Krantz Ian D.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. Detection of low-level mosaicism by array CGH in routine diagnostic specimens;Ballif;Am J Med Genet Part A,2006

2. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis;Conlin;Hum Mol Genet,2010

3. High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans;Coop;Science,2008

4. Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome;Cormier-Daire;Am J Med Genet,1997

5. Post-zygotic origin of isochromosome 12p;de Ravel;Prenat Diagn,2004

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