Records 1 - 6
| Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Journal of human genetics 2019 Aug .
Mistri Mehul, Mehta Sanjeev, Solanki Dhaval, Kamate Mahesh, Gupta Neerja, Kabra Madhulika, Puri Ratna, Girisha Katta, Hariharan Sankar, Nampoothiri Sheela, Sheth Frenny, Sheth Jaye
| Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Genetic testing and molecular biomarkers 2016 Sep 20 (9): 504-9.
Mehta Nikita, Lazarin Gabriel A, Spiegel Erica, Berentsen Kathleen, Brennan Kelly, Giordano Jessica, Haque Imran S, Wapner Rona
| Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Molecular genetics & genomic medicine 2013 Nov 1 (4): 260-8.
Hoffman Jodi D, Greger Valerie, Strovel Erin T, Blitzer Miriam G, Umbarger Mark A, Kennedy Caleb, Bishop Brian, Saunders Patrick, Porreca Gregory J, Schienda Jaclyn, Davie Jocelyn, Hallam Stephanie, Towne Charl
| Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Pediatric research 2010 Feb 67 (2): 217-20.
Park Noh Jin, Morgan Craig, Sharma Rajesh, Li Yuanyin, Lobo Raynah M, Redman Joy B, Salazar Denise, Sun Weimin, Neidich Julie A, Strom Charles
| Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Molecular genetics and metabolism 2006 Feb 87 (2): 122-7.
Vallance Hilary, Morris Tara J, Coulter-Mackie Marion, Lim-Steele Joyce, Kaback Micha
| Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.
Genetic testing 2004 8 (2): 174-80.
Branda Kelly Johnston, Tomczak Jerzy, Natowicz Marvin