A Novel, Single Nucleotide Polymorphism-Based Assay to Detect 22q11 Deletions-Reference-Cited by-同舟云学术

A Novel, Single Nucleotide Polymorphism-Based Assay to Detect 22q11 Deletions

Published:2007-04 Issue:1 Volume:11 Page:91-100
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Funke Birgit H.¹,Brown Alison C.¹,Ramoni Marco F.¹²,Regan Maura E.¹,Baglieri Chris¹,Finn Christine T.¹,Babcock Melanie³,Shprintzen Robert J.⁴,Morrow Bernice E.³,Kucherlapati Raju¹

Affiliation:

1. Harvard Medical School–Partners Healthcare Center for Genetics and Genomics (HPCGG), Boston, Massachusetts, and Cambridge, Massachusetts.

2. Children's Hospital Informatics Program, Harvard–MIT Division of Health Sciences and Technology, Boston, Massachusetts.

3. Albert Einstein College of Medicine, Department of Molecular Genetics, Bronx, New York.

4. Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Sciences, State University of New York Upstate Medical University, Syracuse, New York.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.0507

Reference42 articles.

1. Functional Consequences of PRODH Missense Mutations

2. Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

3. A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

4. Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

5. Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: Application to the development of quantitative real-time PCR assay for clinical diagnosis

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