109 related articles for article (PubMed ID: 21796138)
1. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
Haghighi A; Rezazadeh J; Shadmehri AA; Haghighi A; Kornreich R; Desnick RJ
J Hum Genet; 2011 Sep; 56(9):682-4. PubMed ID: 21796138
[TBL] [Abstract][Full Text] [Related]
2. Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C; Dussau J; Azouguene E; Feillet F; Puech JP; Caillaud C
Biochem Biophys Res Commun; 2010 Feb; 392(4):599-602. PubMed ID: 20100466
[TBL] [Abstract][Full Text] [Related]
3. Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
Haghighi A; Masri A; Kornreich R; Desnick RJ
Mol Genet Metab; 2011 Dec; 104(4):700-2. PubMed ID: 21967858
[TBL] [Abstract][Full Text] [Related]
4. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L; de Olano N; Macías-Vidal J; Coll MA;
Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
[TBL] [Abstract][Full Text] [Related]
5. 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.
Park NJ; Morgan C; Sharma R; Li Y; Lobo RM; Redman JB; Salazar D; Sun W; Neidich JA; Strom CM
Pediatr Res; 2010 Feb; 67(2):217-20. PubMed ID: 19858779
[TBL] [Abstract][Full Text] [Related]
6. Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA; Ali OSM; Nasr H; Fateen E; AbdelAleem A
Orphanet J Rare Dis; 2023 Mar; 18(1):52. PubMed ID: 36907859
[TBL] [Abstract][Full Text] [Related]
7. Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
Chin E; Bean L; Coffee B; Hegde MR
Hum Genet; 2009 Aug; 126(2):329. PubMed ID: 19644708
[No Abstract] [Full Text] [Related]
8. At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
Ozkara HA; Navon R
Mol Genet Metab; 1998 Nov; 65(3):250-3. PubMed ID: 9851891
[TBL] [Abstract][Full Text] [Related]
9. Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
Drucker L; Hemli JA; Navon R
Hum Mutat; 1997; 10(6):451-7. PubMed ID: 9401008
[TBL] [Abstract][Full Text] [Related]
10. 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.
Mistri M; Mehta S; Solanki D; Kamate M; Gupta N; Kabra M; Puri R; Girisha K; Hariharan S; Nampoothiri S; Sheth F; Sheth J
J Hum Genet; 2019 Oct; 64(10):985-994. PubMed ID: 31388111
[TBL] [Abstract][Full Text] [Related]
11. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Montalvo AL; Filocamo M; Vlahovicek K; Dardis A; Lualdi S; Corsolini F; Bembi B; Pittis MG
Hum Mutat; 2005 Sep; 26(3):282. PubMed ID: 16088929
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
Tanaka A; Fujimaru M; Choeh K; Isshiki G
J Hum Genet; 1999; 44(2):91-5. PubMed ID: 10083731
[TBL] [Abstract][Full Text] [Related]
13. Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S; Eskandari N; Aryani O; Salehpour S; Zaman T; Kamalidehghan B; Houshmand M
Iran Biomed J; 2014; 18(2):114-9. PubMed ID: 24518553
[TBL] [Abstract][Full Text] [Related]
14. Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Mistri M; Tamhankar PM; Sheth F; Sanghavi D; Kondurkar P; Patil S; Idicula-Thomas S; Gupta S; Sheth J
PLoS One; 2012; 7(6):e39122. PubMed ID: 22723944
[TBL] [Abstract][Full Text] [Related]
15. Novel Tay-Sachs disease mutations from China.
Akalin N; Shi HP; Vavougios G; Hechtman P; Lo W; Scriver CR; Mahuran D; Kaplan F
Hum Mutat; 1992; 1(1):40-6. PubMed ID: 1301190
[TBL] [Abstract][Full Text] [Related]
16. Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.
Drucker L; Golan A; Boles DJ; el Bedour K; Proia RL; Navon R
Hum Mutat; 1997; 9(3):260-4. PubMed ID: 9090529
[TBL] [Abstract][Full Text] [Related]
17. Prenatal Diagnosis of Tay-Sachs Disease.
Zhang J; Chen H; Kornreich R; Yu C
Methods Mol Biol; 2019; 1885():233-250. PubMed ID: 30506202
[TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
Zampieri S; Montalvo A; Blanco M; Zanin I; Amartino H; Vlahovicek K; Szlago M; Schenone A; Pittis G; Bembi B; Dardis A
Gene; 2012 May; 499(2):262-5. PubMed ID: 22441121
[TBL] [Abstract][Full Text] [Related]
19. Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Park JH; Ko JM; Kim MS; Kim MJ; Seong MW; Yoo T; Lim BC; Chae JH
Mol Genet Genomic Med; 2021 Jun; 9(6):e1677. PubMed ID: 33811753
[TBL] [Abstract][Full Text] [Related]
20. Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.
Sheth J; Mistri M; Mahadevan L; Mehta S; Solanki D; Kamate M; Sheth F
BMC Med Genet; 2018 Jul; 19(1):109. PubMed ID: 29973161
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
