These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

98 related articles for article (PubMed ID: 7801999)

  • 1. Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.
    Zlotogora J; Furman-Shaharabani Y; Goldenfum S; Winchester B; von Figura K; Gieselmann V
    Am J Med Genet; 1994 Aug; 52(2):146-50. PubMed ID: 7801999
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
    Gort L; Coll MJ; Chabás A
    Hum Mutat; 1999; 14(3):240-8. PubMed ID: 10477432
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
    Zlotogora J; Bach G; Bösenberg C; Barak Y; von Figura K; Gieselmann V
    Hum Mutat; 1995; 5(2):137-43. PubMed ID: 7749412
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.
    Ricketts MH; Goldman D; Long JC; Manowitz P
    Am J Med Genet; 1996 Jul; 67(4):387-92. PubMed ID: 8837707
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Fragile X founder effects and new mutations in Finland.
    Zhong N; Kajanoja E; Smits B; Pietrofesa J; Curley D; Wang D; Ju W; Nolin S; Dobkin C; Ryynänen M; Brown WT
    Am J Med Genet; 1996 Jul; 64(1):226-33. PubMed ID: 8826481
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
    Ben Halim N; Dorboz I; Kefi R; Kharrat N; Eymard-Pierre E; Nagara M; Romdhane L; Ben Alaya-Bouafif N; Rebai A; Miladi N; Boespflug-Tanguy O; Abdelhak S
    Neurol Sci; 2016 Mar; 37(3):403-9. PubMed ID: 26577183
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.
    Marcão A; Pinto E; Rocha S; Sá Miranda MC; Ferreira L; Amaral O
    Mol Genet Metab; 2003 Aug; 79(4):305-7. PubMed ID: 12948748
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.
    Coulter-Mackie M; Gagnier L
    Am J Med Genet; 1997 Nov; 73(1):32-5. PubMed ID: 9375919
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Haplotype analysis of beta thalassemia patients in Western Iran.
    Rahimi Z; Muniz A; Akramipour R; Tofieghzadeh F; Mozafari H; Vaisi-Raygani A; Parsian A
    Blood Cells Mol Dis; 2009; 42(2):140-3. PubMed ID: 19141369
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
    Rockah R; Narinsky R; Frydman M; Cohen IJ; Zaizov R; Weizman A; Frisch A
    Am J Med Genet; 1998 Jul; 78(3):233-6. PubMed ID: 9677056
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
    Juárez-Osuna JA; Mendoza-Ruvalcaba SC; Porras-Dorantes A; Da Silva-José TD; García-Ortiz JE
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1305. PubMed ID: 32431092
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
    Regis S; Corsolini F; Stroppiano M; Cusano R; Filocamo M
    Hum Genet; 2002 Apr; 110(4):351-5. PubMed ID: 11941485
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.
    Rodríguez-Marí A; Díaz-Font A; Chabás A; Pastores GM; Grinberg D; Vilageliu L
    Blood Cells Mol Dis; 2001; 27(5):950-9. PubMed ID: 11783960
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe.
    Ehrlich G; Ginzberg D; Loewenstein Y; Glick D; Kerem B; Ben-Ari S; Zakut H; Soreq H
    Genomics; 1994 Jul; 22(2):288-95. PubMed ID: 7806214
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Arylsulfatase A pseudodeficiency incidence in Turkey.
    Emre S; Topçu M; Terzioğlu M; Renda Y
    Turk J Pediatr; 2000; 42(2):115-7. PubMed ID: 10936976
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characteristics of myotonic dystrophy in Istria: molecular genetic approach. Part II: Analysis of genetic polymorphisms.
    Medica I; Logar N; Peterlin B
    Coll Antropol; 2000 Dec; 24(2):287-94. PubMed ID: 11216395
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
    Olkhovych NV; Gorovenko NG
    Ukr Biochem J; 2016; 88(5):96-106. PubMed ID: 29235819
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.
    Ott R; Waye JS; Chang PL
    Hum Genet; 1997 Dec; 101(2):135-40. PubMed ID: 9402957
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families.
    Schneider A; Westwood B; Yim C; Cohen-Solal M; Rosa R; Labotka R; Eber S; Wolf R; Lammi A; Beutler E
    Blood Cells Mol Dis; 1996; 22(2):115-25. PubMed ID: 8931952
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
    Bertelli M; Gallo S; Buda A; Cecchin S; Fabbri A; Lapucci C; Andrighetto G; Sidoti V; Lorusso L; Pandolfo M
    J Clin Neurosci; 2006 May; 13(4):443-8. PubMed ID: 16678723
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.