BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

374 related articles for article (PubMed ID: 26426075)

  • 1. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
    Zeevi DA; Altarescu G; Weinberg-Shukron A; Zahdeh F; Dinur T; Chicco G; Herskovitz Y; Renbaum P; Elstein D; Levy-Lahad E; Rolfs A; Zimran A
    J Clin Invest; 2015 Oct; 125(10):3757-65. PubMed ID: 26426075
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
    Cormand B; Montfort M; Chabás A; Grinberg D; Vilageliu LL
    Prenat Diagn; 1998 Mar; 18(3):207-12. PubMed ID: 9556036
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
    Diaz GA; Gelb BD; Risch N; Nygaard TG; Frisch A; Cohen IJ; Miranda CS; Amaral O; Maire I; Poenaru L; Caillaud C; Weizberg M; Mistry P; Desnick RJ
    Am J Hum Genet; 2000 Jun; 66(6):1821-32. PubMed ID: 10777718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband.
    Li H; Du B; Jiang F; Guo Y; Wang Y; Zhang C; Zeng X; Xie Y; Ouyang S; Xian Y; Chen M; Liu W; Sun X
    Mol Genet Genomic Med; 2019 Nov; 7(11):e963. PubMed ID: 31566929
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal diagnosis of Gaucher disease using next-generation sequencing.
    Yoshida S; Kido J; Matsumoto S; Momosaki K; Mitsubuchi H; Shimazu T; Sugawara K; Endo F; Nakamura K
    Pediatr Int; 2016 Sep; 58(9):946-9. PubMed ID: 27682613
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K; Tayebi N; Stubblefield BK; Koprivica V; Blitzer M; Holleran W; Cowan T; Almashanu S; Maddalena A; Karson EM; Sidransky E
    Mol Genet Metab; 1998 Apr; 63(4):281-8. PubMed ID: 9635296
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.
    Gao B; Jiang Y; Han M; Ji X; Zhang D; Wu L; Gao X; Huang S; Zhao C; Su Y; Yang S; Zhang X; Liu N; Han L; Wang L; Ren L; Yang J; Wu J; Yuan Y; Dai P
    J Mol Diagn; 2024 Jul; 26(7):638-651. PubMed ID: 38663495
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
    Vermeulen C; Geeven G; de Wit E; Verstegen MJAM; Jansen RPM; van Kranenburg M; de Bruijn E; Pulit SL; Kruisselbrink E; Shahsavari Z; Omrani D; Zeinali F; Najmabadi H; Katsila T; Vrettou C; Patrinos GP; Traeger-Synodinos J; Splinter E; Beekman JM; Kheradmand Kia S; Te Meerman GJ; Ploos van Amstel HK; de Laat W
    Am J Hum Genet; 2017 Sep; 101(3):326-339. PubMed ID: 28844486
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
    Wang W; Yuan Y; Zheng H; Wang Y; Zeng D; Yang Y; Yi X; Xia Y; Zhu C
    Genet Test Mol Biomarkers; 2017 Jul; 21(7):433-439. PubMed ID: 28537755
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
    Auslender N; Sharon D; Abbasi AH; Garzozi HJ; Banin E; Ben-Yosef T
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies.
    Ruskey JA; Zhou S; Santiago R; Franche LA; Alam A; Roncière L; Spiegelman D; Fon EA; Trempe JF; Kalia LV; Postuma RB; Dupre N; Rivard GE; Assouline S; Amato D; Gan-Or Z
    Clin Genet; 2018 Oct; 94(3-4):339-345. PubMed ID: 29920646
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
    Hui WW; Jiang P; Tong YK; Lee WS; Cheng YK; New MI; Kadir RA; Chan KC; Leung TY; Lo YM; Chiu RW
    Clin Chem; 2017 Feb; 63(2):513-524. PubMed ID: 27932412
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Carrier screening for Gaucher disease in couples of mixed ethnicity.
    Wallerstein R; Starkman A; Jansen V
    Genet Test; 2001; 5(1):61-4. PubMed ID: 11336404
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Non-invasive prenatal diagnosis of single-gene disorders from maternal blood.
    Bustamante-Aragonés A; Rodríguez de Alba M; Perlado S; Trujillo-Tiebas MJ; Arranz JP; Díaz-Recasens J; Troyano-Luque J; Ramos C
    Gene; 2012 Aug; 504(1):144-9. PubMed ID: 22561692
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Non‑invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next‑generation sequencing.
    Yang X; Ye Y; Fan D; Lin S; Li M; Hou H; Zhang J; Yang X
    Mol Med Rep; 2020 Aug; 22(2):1547-1557. PubMed ID: 32627040
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.
    Drury S; Mason S; McKay F; Lo K; Boustred C; Jenkins L; Chitty LS
    Adv Exp Med Biol; 2016; 924():71-75. PubMed ID: 27753022
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR.
    Chang MY; Kim AR; Kim MY; Kim S; Yoon J; Han JJ; Ahn S; Kang C; Choi BY
    Sci Rep; 2016 Dec; 6():37153. PubMed ID: 27924908
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.