BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 10728820)

  • 21. Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
    Mattošová S; Chandoga J; Hlavatá A; Saligová J; Maceková D
    Isr Med Assoc J; 2015 Mar; 17(3):166-70. PubMed ID: 25946768
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene.
    Martínez-Arias R; Mateu E; Bertranpetit J; Calafell F
    Hum Genet; 2001 Jul; 109(1):7-10. PubMed ID: 11479729
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
    Tayebi N; Callahan M; Madike V; Stubblefield BK; Orvisky E; Krasnewich D; Fillano JJ; Sidransky E
    Mol Genet Metab; 2001 Aug; 73(4):313-21. PubMed ID: 11509013
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
    Seeman PJ; Finckh U; Höppner J; Lakner V; Liebisch I; Grau G; Rolfs A
    Neurology; 1996 Apr; 46(4):1102-7. PubMed ID: 8780099
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
    Glenn D; Gelbart T; Beutler E
    Hum Genet; 1994 Jun; 93(6):635-8. PubMed ID: 8005587
    [TBL] [Abstract][Full Text] [Related]  

  • 26. High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
    Torralba MA; Alfonso P; Pérez-Calvo JI; Cenarro A; Pastores GM; Giraldo P; Civeira F; Pocoví M
    Blood Cells Mol Dis; 2002; 29(1):35-40. PubMed ID: 12482401
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E
    Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.
    Graham OEE; Pitcher TL; Liau Y; Miller AL; Dalrymple-Alford JC; Anderson TJ; Kennedy MA
    Parkinsonism Relat Disord; 2020 Jan; 70():36-41. PubMed ID: 31809948
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and genetic characteristics of Korean patients with Gaucher disease.
    Jeong SY; Park SJ; Kim HJ
    Blood Cells Mol Dis; 2011 Jan; 46(1):11-4. PubMed ID: 20729108
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
    LaMarca ME; Goldstein M; Tayebi N; Arcos-Burgos M; Martin BM; Sidransky E
    J Hum Genet; 2004; 49(4):220-222. PubMed ID: 15024629
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
    Beutler E; Gelbart T; Kuhl W; Sorge J; West C
    Proc Natl Acad Sci U S A; 1991 Dec; 88(23):10544-7. PubMed ID: 1961718
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
    Leija-Salazar M; Sedlazeck FJ; Toffoli M; Mullin S; Mokretar K; Athanasopoulou M; Donald A; Sharma R; Hughes D; Schapira AHV; Proukakis C
    Mol Genet Genomic Med; 2019 Mar; 7(3):e564. PubMed ID: 30637984
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.
    Tsai FJ; Lee CC; Wu MC; Lin SP; Lin CY; Tsai CH; Kodama H; Wu JY
    Acta Paediatr Taiwan; 2001; 42(4):231-5. PubMed ID: 11550412
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Comparative and genetic analysis of the porcine glucocerebrosidase (GBA) gene.
    Stratil A; Wagenknecht D; Van Poucke M; Kubícková S; Bartenschlager H; Musilová P; Rubes J; Geldermann H; Peelman LJ
    Comp Biochem Physiol B Biochem Mol Biol; 2004 Aug; 138(4):377-83. PubMed ID: 15325338
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
    Cormand B; Grinberg D; Gort L; Chabás A; Vilageliu L
    Hum Mutat; 1998; 11(4):295-305. PubMed ID: 9554746
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
    Alfonso P; Cenarro A; Pérez-Calvo JI; Giralt M; Giraldo P; Pocoví M
    Blood Cells Mol Dis; 2001; 27(5):882-91. PubMed ID: 11783951
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
    Beutler E; Gelbart T
    Hum Mutat; 1994; 4(3):212-6. PubMed ID: 7833951
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Microdissection genotyping of archival fixative treated tissue for Gaucher disease.
    Mohan D; Rolston R; Pal R; Swalsky PA; Sasatomi E; Lee RE; Finkelstein SD
    Hum Pathol; 2004 Apr; 35(4):482-7. PubMed ID: 15116330
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
    Zimran A; Sorge J; Gross E; Kubitz M; West C; Beutler E
    J Clin Invest; 1990 Jan; 85(1):219-22. PubMed ID: 2295698
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
    Sheth J; Bhavsar R; Mistri M; Pancholi D; Bavdekar A; Dalal A; Ranganath P; Girisha KM; Shukla A; Phadke S; Puri R; Panigrahi I; Kaur A; Muranjan M; Goyal M; Ramadevi R; Shah R; Nampoothiri S; Danda S; Datar C; Kapoor S; Bhatwadekar S; Sheth F
    BMC Med Genet; 2019 Feb; 20(1):31. PubMed ID: 30764785
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.