Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population-Reference-Cited by-同舟云学术

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Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population

Published:2016-09 Issue:9 Volume:20 Page:504-509
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Mehta Nikita¹,Lazarin Gabriel A.¹,Spiegel Erica²,Berentsen Kathleen¹,Brennan Kelly²,Giordano Jessica¹²³,Haque Imran S.¹,Wapner Ronald²

Affiliation:

1. Counsyl, South San Francisco, California.

2. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, New York.

3. Department of OBGYN-MFM, Columbia Doctors Midtown, New York, New York.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2015.0302

Reference30 articles.

1. ACOG Committee Opinion #318: Screening for Tay-Sachs Disease

2. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure

3. Heterozygosity for Tay-Sachs and Sandhoff Diseases in Non-Jewish Americans with Ancestry from Ireland, Great Britain, or Italy

4. The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

5. Expanded Carrier Screening in Reproductive Medicine—Points to Consider

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1. Bibliography;Diagnostic Molecular Biology;2023

2. Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2022-04

3. Expanded Carrier Screening;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2022

4. Carrier Screening for Single-Gene Disorders – A Brief Review;Journal of Biomedical and Clinical Research;2021-12-01

5. Thirty two novel nsSNPs May effect onHEXAprotein Leading to Tay-Sachs disease (TSD) Using a Computational Approach;2019-09-09

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