167 related articles for article (PubMed ID: 21967858)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC; Vengoechea ES; Kaseniit KE; Hardy MW; Kiger LA; Mehta N; Haque IS; Moyer K; Page PZ; Muzzey D; Grinzaid KA
Mol Genet Genomic Med; 2019 Aug; 7(8):e836. PubMed ID: 31293106
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Akerman BR; Zielenski J; Triggs-Raine BL; Prence EM; Natowicz MR; Lim-Steele JS; Kaback MM; Mules EH; Thomas GH; Clarke JT
Hum Mutat; 1992; 1(4):303-9. PubMed ID: 1301938
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Vallance H; Morris TJ; Coulter-Mackie M; Lim-Steele J; Kaback M
Mol Genet Metab; 2006 Feb; 87(2):122-7. PubMed ID: 16352452
[TBL] [Abstract][Full Text] [Related]
14. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
Guetta E; Peleg L
Methods Mol Biol; 2008; 444():147-59. PubMed ID: 18425478
[TBL] [Abstract][Full Text] [Related]
15. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Hum Mutat; 1997; 9(3):195-208. PubMed ID: 9090523
[TBL] [Abstract][Full Text] [Related]
16. Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Yoo HW; Astrin KH; Desnick RJ
J Korean Med Sci; 1993 Feb; 8(1):84-91. PubMed ID: 8343225
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
Karpati M; Peleg L; Gazit E; Akstein E; Goldman B
Clin Genet; 2000 May; 57(5):398-400. PubMed ID: 10852376
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genet Test; 1998; 2(4):271-92. PubMed ID: 10464605
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
