201 related articles for article (PubMed ID: 7951261)
21. 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]
22. 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]
23. 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]
24. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screening method to detect mutations causing Tay-Sachs disease.
Srinivasan JR; Liu YH; Venta PJ; Siemieniak D; Killeen AA; Zhu Y; Lubman DM
Rapid Commun Mass Spectrom; 1997; 11(10):1144-50. PubMed ID: 9218358
[TBL] [Abstract][Full Text] [Related]
25. Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
Akli S; Chomel JC; Lacorte JM; Bachner L; Kahn A; Poenaru L
Hum Mol Genet; 1993 Jan; 2(1):61-7. PubMed ID: 8490625
[TBL] [Abstract][Full Text] [Related]
26. The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.
Hou Y; Vavougios G; Hinek A; Wu KK; Hechtman P; Kaplan F; Mahuran DJ
Am J Hum Genet; 1996 Jul; 59(1):52-8. PubMed ID: 8659543
[TBL] [Abstract][Full Text] [Related]
27. Isoenzymes of N-acetyl-beta-hexosaminidase.
Zwierz K; Zalewska A; Zoch-Zwierz A
Acta Biochim Pol; 1999; 46(3):739-51. PubMed ID: 10698282
[TBL] [Abstract][Full Text] [Related]
28. Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
Fernandes MJ; Kaplan F; Clow CL; Hechtman P; Scriver CR
Genet Epidemiol; 1992; 9(3):169-75. PubMed ID: 1387862
[TBL] [Abstract][Full Text] [Related]
29. A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
Brown DH; Triggs-Raine BL; McGinniss MJ; Kaback MM
Hum Mutat; 1995; 5(2):173-4. PubMed ID: 7749415
[No Abstract] [Full Text] [Related]
30. Pedigree discriminant analysis of two French Canadian Tay-Sachs families.
Keats BJ; Elston RC; Andermann E
Genet Epidemiol; 1987; 4(2):77-85. PubMed ID: 2953646
[TBL] [Abstract][Full Text] [Related]
31. Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
Strasberg P; Warren I; Skomorowski MA; Feigenbaum A
Hum Mutat; 1997; 10(1):82-3. PubMed ID: 9222766
[No Abstract] [Full Text] [Related]
32. Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
Akli S; Boue J; Sandhoff K; Kleijer W; Vamos E; Young E; Gatti R; Di Natale P; Motte J; Vanier MT
Eur J Hum Genet; 1993; 1(3):229-38. PubMed ID: 8044648
[TBL] [Abstract][Full Text] [Related]
33. Tay-Sachs disease in Jacob sheep.
Torres PA; Zeng BJ; Porter BF; Alroy J; Horak F; Horak J; Kolodny EH
Mol Genet Metab; 2010 Dec; 101(4):357-63. PubMed ID: 20817517
[TBL] [Abstract][Full Text] [Related]
34. Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.
Grebner EE; Tomczak J
Am J Hum Genet; 1991 Mar; 48(3):604-7. PubMed ID: 1825595
[TBL] [Abstract][Full Text] [Related]
35. Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
Triggs-Raine BL; Akerman BR; Clarke JT; Gravel RA
Am J Hum Genet; 1991 Nov; 49(5):1041-54. PubMed ID: 1833974
[TBL] [Abstract][Full Text] [Related]
36. Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.
Boustany RM; Tanaka A; Nishimoto J; Suzuki K
Ann Neurol; 1991 Jan; 29(1):104-7. PubMed ID: 1996872
[TBL] [Abstract][Full Text] [Related]
37. Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
Navon R; Proia RL
Am J Hum Genet; 1991 Feb; 48(2):412-9. PubMed ID: 1825014
[TBL] [Abstract][Full Text] [Related]
38. [Biochemical, molecular and social aspects of carrier screening for Tay-Sachs disease].
Peleg L; Gazit E; Goldman B; Akstein E
Harefuah; 1995 Dec; 129(11):475-80. PubMed ID: 8846957
[No Abstract] [Full Text] [Related]
39. A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
Ohno K; Suzuki K
Biochem Biophys Res Commun; 1988 May; 153(1):463-9. PubMed ID: 2837213
[TBL] [Abstract][Full Text] [Related]
40. A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
Fernandes MJ; Hechtman P; Boulay B; Kaplan F
Eur J Hum Genet; 1997; 5(3):129-36. PubMed ID: 9272736
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]