BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

734 related articles for article (PubMed ID: 20220176)

  • 1. Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
    Roach JC; Glusman G; Smit AF; Huff CD; Hubley R; Shannon PT; Rowen L; Pant KP; Goodman N; Bamshad M; Shendure J; Drmanac R; Jorde LB; Hood L; Galas DJ
    Science; 2010 Apr; 328(5978):636-9. PubMed ID: 20220176
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.
    Kinoshita F; Kondoh T; Komori K; Matsui T; Harada N; Yanai A; Fukuda M; Morifuji K; Matsumoto T
    Pediatr Int; 2011 Aug; 53(4):587-91. PubMed ID: 21851494
    [No Abstract]   [Full Text] [Related]  

  • 3. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
    Rainger J; Bengani H; Campbell L; Anderson E; Sokhi K; Lam W; Riess A; Ansari M; Smithson S; Lees M; Mercer C; McKenzie K; Lengfeld T; Gener Querol B; Branney P; McKay S; Morrison H; Medina B; Robertson M; Kohlhase J; Gordon C; Kirk J; Wieczorek D; Fitzpatrick DR
    Hum Mol Genet; 2012 Sep; 21(18):3969-83. PubMed ID: 22692683
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Finding disease variants in Mendelian disorders by using sequence data: methods and applications.
    Ionita-Laza I; Makarov V; Yoon S; Raby B; Buxbaum J; Nicolae DL; Lin X
    Am J Hum Genet; 2011 Dec; 89(6):701-12. PubMed ID: 22137099
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
    Duley JA; Henman MG; Carpenter KH; Bamshad MJ; Marshall GA; Ooi CY; Wilcken B; Pinner JR
    Mol Genet Metab; 2016 Sep; 119(1-2):83-90. PubMed ID: 27370710
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.
    Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Saito T; Takazaki S; Kanki T; Yamaza H; Nonaka K; Kang D
    Biosci Rep; 2012 Dec; 32(6):631-9. PubMed ID: 22967083
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
    Marshall CR; Scherer SW; Zariwala MA; Lau L; Paton TA; Stockley T; Jobling RK; Ray PN; Knowles MR; ; Hall DA; Dell SD; Kim RH
    G3 (Bethesda); 2015 Jul; 5(8):1775-81. PubMed ID: 26139845
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing identifies the cause of a mendelian disorder.
    Ng SB; Buckingham KJ; Lee C; Bigham AW; Tabor HK; Dent KM; Huff CD; Shannon PT; Jabs EW; Nickerson DA; Shendure J; Bamshad MJ
    Nat Genet; 2010 Jan; 42(1):30-5. PubMed ID: 19915526
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.
    Zhou L; Li Z; Du C; Chen C; Sun Y; Gu L; Zhou F; Song Y
    Mol Med Rep; 2020 Dec; 22(6):4707-4715. PubMed ID: 33174003
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
    Xu J; Wu J; Teng X; Cai L; Yuan H; Chen X; Hu M; Wang X; Jiang N; Chen H
    Am J Med Genet A; 2020 Sep; 182(9):2117-2123. PubMed ID: 32662247
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exome sequencing makes medical genomics a reality.
    Biesecker LG
    Nat Genet; 2010 Jan; 42(1):13-4. PubMed ID: 20037612
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
    Twigg SR; Ousager LB; Miller KA; Zhou Y; Elalaoui SC; Sefiani A; Bak GS; Hove H; Hansen LK; Fagerberg CR; Tajir M; Wilkie AO
    Clin Genet; 2016 Sep; 90(3):270-5. PubMed ID: 26706854
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human genetics: Genomes on prescription.
    Maher B
    Nature; 2011 Oct; 478(7367):22-4. PubMed ID: 21979025
    [No Abstract]   [Full Text] [Related]  

  • 14. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
    Bartoloni L; Blouin JL; Maiti AK; Sainsbury A; Rossier C; Gehrig C; She JX; Marron MP; Lander ES; Meeks M; Chung E; Armengot M; Jorissen M; Scott HS; Delozier-Blanchet CD; Gardiner RM; Antonarakis SE
    Genomics; 2001 Feb; 72(1):21-33. PubMed ID: 11247663
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
    Bieder A; Einarsdottir E; Matsson H; Nilsson HE; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li TQ; Lindstrand A; Kere J; Tapia-Páez I
    BMC Med Genet; 2020 May; 21(1):87. PubMed ID: 32357925
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Revisiting Mendelian disorders through exome sequencing.
    Ku CS; Naidoo N; Pawitan Y
    Hum Genet; 2011 Apr; 129(4):351-70. PubMed ID: 21331778
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A probabilistic disease-gene finder for personal genomes.
    Yandell M; Huff C; Hu H; Singleton M; Moore B; Xing J; Jorde LB; Reese MG
    Genome Res; 2011 Sep; 21(9):1529-42. PubMed ID: 21700766
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family.
    al-Shroof M; Karnik AM; Karnik AA; Longshore J; Sliman NA; Khan FA
    Mayo Clin Proc; 2001 Dec; 76(12):1219-24. PubMed ID: 11761503
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.
    Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Takazaki S; Yamaza H; Nonaka K; Kang D
    Biosci Rep; 2013 Feb; 33(2):e00021. PubMed ID: 23216091
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
    Guichard C; Harricane MC; Lafitte JJ; Godard P; Zaegel M; Tack V; Lalau G; Bouvagnet P
    Am J Hum Genet; 2001 Apr; 68(4):1030-5. PubMed ID: 11231901
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 37.