745 related articles for article (PubMed ID: 18425478)
1. 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]
2. 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]
3. Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.
Tamasu S; Nishio H; Ayaki H; Lee MJ; Mizutori M; Takeshima Y; Nakamura H; Matsuo M; Maruo T; Sumino K
Kobe J Med Sci; 1999 Dec; 45(6):259-70. PubMed ID: 10985159
[TBL] [Abstract][Full Text] [Related]
4. First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A.
Callahan JW; Archibald A; Skomorowski MA; Shuman C; Clarke JT
Clin Biochem; 1990 Dec; 23(6):533-6. PubMed ID: 2149678
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. In situ assessment of beta-hexosaminidase activity.
Lacorazza HD; Jendoubi M
Biotechniques; 1995 Sep; 19(3):434-40. PubMed ID: 7495557
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.
Grebner EE; Wenger DA
Prenat Diagn; 1987 Jul; 7(6):419-23. PubMed ID: 2958791
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling.
Grebner EE; Jackson LG
Prenat Diagn; 1985; 5(5):313-20. PubMed ID: 2933645
[TBL] [Abstract][Full Text] [Related]
11. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
Triggs-Raine BL; Feigenbaum AS; Natowicz M; Skomorowski MA; Schuster SM; Clarke JT; Mahuran DJ; Kolodny EH; Gravel RA
N Engl J Med; 1990 Jul; 323(1):6-12. PubMed ID: 2355960
[TBL] [Abstract][Full Text] [Related]
12. Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.
Unal C; Ozkara HA; Tanacan A; Fadiloglu E; Lay I; Topçu M; Cakar AN; Beksac MS
Prenat Diagn; 2019 Nov; 39(12):1080-1085. PubMed ID: 31411753
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of free sialic acid storage disorders (SASD).
Aula N; Aula P
Prenat Diagn; 2006 Aug; 26(8):655-8. PubMed ID: 16715535
[TBL] [Abstract][Full Text] [Related]
14. Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
Peleg L; Goldman B
Eur J Clin Chem Clin Biochem; 1994 Feb; 32(2):65-9. PubMed ID: 8003579
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Akli S; Guidotti JE; Vigne E; Perricaudet M; Sandhoff K; Kahn A; Poenaru L
Gene Ther; 1996 Sep; 3(9):769-74. PubMed ID: 8875224
[TBL] [Abstract][Full Text] [Related]
17. [Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy].
Veszprémi B; Baranyai Z; Klujber L; Arany A
Orv Hetil; 1992 Apr; 133(14):857-8. PubMed ID: 1522989
[TBL] [Abstract][Full Text] [Related]
18. Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
Landels EC; Ellis IH; Bobrow M; Fensom AH
J Med Genet; 1991 Feb; 28(2):101-9. PubMed ID: 1825851
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.
Miklyaeva EI; Dong W; Bureau A; Fattahie R; Xu Y; Su M; Fick GH; Huang JQ; Igdoura S; Hanai N; Gravel RA
Brain Res; 2004 Mar; 1001(1-2):37-50. PubMed ID: 14972652
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
