BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

370 related articles for article (PubMed ID: 30506202)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
    Strasberg PM; Clarke JT
    Clin Chem; 1992 Nov; 38(11):2249-55. PubMed ID: 1424119
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Expanding the spectrum of
    Sheth J; Mistri M; Datar C; Kalane U; Patil S; Kamate M; Shah H; Nampoothiri S; Gupta S; Sheth F
    Mol Genet Metab Rep; 2014; 1():425-430. PubMed ID: 27896118
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
    Paw BH; Tieu PT; Kaback MM; Lim J; Neufeld EF
    Am J Hum Genet; 1990 Oct; 47(4):698-705. PubMed ID: 2220809
    [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. 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]  

  • 15. Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
    Triggs-Raine B; Richard M; Wasel N; Prence EM; Natowicz MR
    Am J Hum Genet; 1995 Apr; 56(4):870-9. PubMed ID: 7717398
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.
    Kaback M; Lim-Steele J; Dabholkar D; Brown D; Levy N; Zeiger K
    JAMA; 1993 Nov; 270(19):2307-15. PubMed ID: 8230592
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
    Natowicz MR; Prence EM
    Curr Opin Pediatr; 1996 Dec; 8(6):625-9. PubMed ID: 9018448
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 19.