Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements-Reference-Cited by-同舟云学术

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

Published:2014-04-09 Issue:1 Volume:23 Page:61-66
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Sahoo Trilochan,Wang Jia-Chi,Elnaggar Mohamed M,Sanchez-Lara Pedro,Ross Leslie P,Mahon Loretta W,Hafezi Katayoun,Deming Abigail,Hinman Lynne,Bruno Yovana,Bartley James A,Liehr Thomas,Anguiano Arturo,Jones Marilyn

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201453.pdf

Reference27 articles.

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2. Papenhausen P, Schwartz S, Risheg H et al: UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A 2011; 155A: 757–768.

3. Sund KL, Zimmerman SL, Thomas C et al: Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. Genet Med 2013; 15: 70–78.

4. Kotzot D : Complex and segmental uniparental disomy updated. J Med Genet 2008; 45: 545–556.

5. Liehr T, Ewers E, Hamid AB et al: Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem 2011; 59: 842–848.

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