Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Tay-Sachs Disease and HEXA[original query] |
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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 |
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Human genetics 2004 1 114 (4): 366-76. Frisch Amos, Colombo Roberto, Michaelovsky Elena, Karpati Mazal, Goldman Boleslaw, Peleg Le |
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 |
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 |
Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene. Genetic testing and molecular biomarkers 2011 1 15 (3): 123-6. Ribeiro Diogo, Duarte Ana Joana, Amaral Ol |
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 |
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 |
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS genetics 2018 5 14 (5): e1007329. Rivas Manuel A, Avila Brandon E, Koskela Jukka, Huang Hailiang, Stevens Christine, Pirinen Matti, Haritunians Talin, Neale Benjamin M, Kurki Mitja, Ganna Andrea, Graham Daniel, Glaser Benjamin, Peter Inga, Atzmon Gil, Barzilai Nir, Levine Adam P, Schiff Elena, Pontikos Nikolas, Weisburd Ben, Lek Monkol, Karczewski Konrad J, Bloom Jonathan, Minikel Eric V, Petersen Britt-Sabina, Beaugerie Laurent, Seksik Philippe, Cosnes Jacques, Schreiber Stefan, Bokemeyer Bernd, Bethge Johannes, , , , Heap Graham, Ahmad Tariq, Plagnol Vincent, Segal Anthony W, Targan Stephan, Turner Dan, Saavalainen Paivi, Farkkila Martti, Kontula Kimmo, Palotie Aarno, Brant Steven R, Duerr Richard H, Silverberg Mark S, Rioux John D, Weersma Rinse K, Franke Andre, Jostins Luke, Anderson Carl A, Barrett Jeffrey C, MacArthur Daniel G, Jalas Chaim, Sokol Harry, Xavier Ramnik J, Pulver Ann, Cho Judy H, McGovern Dermot P B, Daly Mark |
Prenatal Diagnosis of Tay-Sachs Disease. Methods in molecular biology (Clifton, N.J.) 2018 12 1885 233-250. Zhang Jinglan, Chen Hongjie, Kornreich Ruth, Yu Chun |
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 |
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease. Journal of neurology 2019 5 266 (8): 1953-1959. Jahnová Helena, Poup?tová Helena, Jire?ková Jitka, Vlášková Hana, Koš?álová Eva, Mazanec Radim, Zumrová Alena, Me?í? Petr, Mušová Zuzana, Magner Mart |
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 11 43 (5): 3273-3281. Májovská Jitka, Hennig Anita, Nestrasil Igor, Schneider Susanne A, Jahnová Helena, Van??ková Manuela, Magner Martin, Dušek Pe |
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. Orphanet journal of rare diseases 2023 3 18 (1): 52. Ibrahim Doaa M A, Ali Ola S M, Nasr Hala, Fateen Ekram, AbdelAleem Ali |
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- Page last updated:Apr 29, 2024
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