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 *

166 related articles for article (PubMed ID: 22137099)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
    Paderova J; Drabova J; Holubova A; Vlckova M; Havlovicova M; Gregorova A; Pourova R; Romankova V; Moslerova V; Geryk J; Norambuena P; Krulisova V; Krepelova A; Macek M; Macek M
    Eur J Med Genet; 2018 Jun; 61(6):315-321. PubMed ID: 29307790
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. 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]  

  • 8. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
    Yap CS; Jamuar SS; Lai AHM; Tan ES; Ng I; Ting TW; Tan EC
    Gene; 2020 Mar; 731():144360. PubMed ID: 31935506
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
    Micale L; Augello B; Fusco C; Selicorni A; Loviglio MN; Silengo MC; Reymond A; Gumiero B; Zucchetti F; D'Addetta EV; Belligni E; Calcagnì A; Digilio MC; Dallapiccola B; Faravelli F; Forzano F; Accadia M; Bonfante A; Clementi M; Daolio C; Douzgou S; Ferrari P; Fischetto R; Garavelli L; Lapi E; Mattina T; Melis D; Patricelli MG; Priolo M; Prontera P; Renieri A; Mencarelli MA; Scarano G; della Monica M; Toschi B; Turolla L; Vancini A; Zatterale A; Gabrielli O; Zelante L; Merla G
    Orphanet J Rare Dis; 2011 Jun; 6():38. PubMed ID: 21658225
    [TBL] [Abstract][Full Text] [Related]  

  • 10. BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.
    Moore CB; Wallace JR; Frase AT; Pendergrass SA; Ritchie MD
    BMC Med Genomics; 2013; 6 Suppl 2(Suppl 2):S6. PubMed ID: 23819467
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
    Miyake N; Koshimizu E; Okamoto N; Mizuno S; Ogata T; Nagai T; Kosho T; Ohashi H; Kato M; Sasaki G; Mabe H; Watanabe Y; Yoshino M; Matsuishi T; Takanashi J; Shotelersuk V; Tekin M; Ochi N; Kubota M; Ito N; Ihara K; Hara T; Tonoki H; Ohta T; Saito K; Matsuo M; Urano M; Enokizono T; Sato A; Tanaka H; Ogawa A; Fujita T; Hiraki Y; Kitanaka S; Matsubara Y; Makita T; Taguri M; Nakashima M; Tsurusaki Y; Saitsu H; Yoshiura K; Matsumoto N; Niikawa N
    Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
    Bekircan-Kurt CE; Şimşek-Kiper PÖ; Boduroğlu K; Dericioğlu N
    Turk J Pediatr; 2016; 58(1):97-100. PubMed ID: 27922244
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
    Smith JD; Hing AV; Clarke CM; Johnson NM; Perez FA; Park SS; Horst JA; Mecham B; Maves L; Nickerson DA; ; Cunningham ML
    Am J Hum Genet; 2014 Aug; 95(2):235-40. PubMed ID: 25105228
    [TBL] [Abstract][Full Text] [Related]  

  • 16. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
    Badalato L; Farhan SM; Dilliott AA; ; Bulman DE; Hegele RA; Goobie SL
    Am J Med Genet A; 2017 Jan; 173(1):183-189. PubMed ID: 27991736
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Kabuki syndrome revisited.
    Bokinni Y
    J Hum Genet; 2012 Apr; 57(4):223-7. PubMed ID: 22437206
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
    Zhang Y; Dai Y; Liu Y; Ren J
    Clin Genet; 2010 Dec; 78(6):570-4. PubMed ID: 20412112
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
    Brackmann F; Krumbholz M; Langer T; Rascher W; Holter W; Metzler M
    J Pediatr Hematol Oncol; 2013 Oct; 35(7):e314-6. PubMed ID: 23042018
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.