BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 8364586)

  • 21. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
    Gao H; Li W; Yan ZH; Jiang MH; Rui DR; He YS
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb; 20(1):19-22. PubMed ID: 12579493
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
    Giorgi M; Morrone A; Donati MA; Ciani F; Bardelli T; Biasucci G; Zammarchi E
    Hum Mutat; 2000 Apr; 15(4):380-1. PubMed ID: 10737985
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
    Schimanski U; Krieger D; Horn M; Stremmel W; Wermuth B; Theilmann L
    Hepatology; 1996 Dec; 24(6):1413-5. PubMed ID: 8938172
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Seven new mutations in the human ornithine transcarbamylase gene.
    Tuchman M; Plante RJ; McCann MT; Qureshi AA
    Hum Mutat; 1994; 4(1):57-60. PubMed ID: 7951259
    [No Abstract]   [Full Text] [Related]  

  • 25. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
    Lee JT; Nussbaum RL
    J Clin Invest; 1989 Dec; 84(6):1762-6. PubMed ID: 2556444
    [TBL] [Abstract][Full Text] [Related]  

  • 26. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
    Suriano G; Azevedo L; Novais M; Boscolo B; Seruca R; Amorim A; Ghibaudi EM
    Hum Mol Genet; 2007 Sep; 16(18):2209-14. PubMed ID: 17613537
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
    Chen Z; Wen P; Wang G; Liu X; Chen L; Chen S; Wan L; Cui D; Shang Y; Li C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):565-9. PubMed ID: 25297582
    [TBL] [Abstract][Full Text] [Related]  

  • 28. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
    Shchelochkov OA; Li FY; Geraghty MT; Gallagher RC; Van Hove JL; Lichter-Konecki U; Fernhoff PM; Copeland S; Reimschisel T; Cederbaum S; Lee B; Chinault AC; Wong LJ
    Mol Genet Metab; 2009 Mar; 96(3):97-105. PubMed ID: 19138872
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
    Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T
    Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
    Choi JH; Lee BH; Kim JH; Kim GH; Kim YM; Cho J; Cheon CK; Ko JM; Lee JH; Yoo HW
    J Hum Genet; 2015 Sep; 60(9):501-7. PubMed ID: 25994866
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
    Eng CM; Desnick RJ
    Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
    Ausems MG; Bakker E; Berger R; Duran M; van Diggelen OP; Keulemans JL; de Valk HW; Kneppers AL; Dorland L; Eskes PF; Beemer FA; Poll-The BT; Smeitink JA
    Am J Med Genet; 1997 Jan; 68(2):236-9. PubMed ID: 9028466
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.
    García-Pérez MA; Climent C; Briones P; Vilaseca MA; Rodés M; Rubio V
    J Inherit Metab Dis; 1997 Nov; 20(6):769-77. PubMed ID: 9427144
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
    Bisanzi S; Morrone A; Donati MA; Pasquini E; Spada M; Strisciuglio P; Parenti G; Parini R; Papadia F; Zammarchi E
    Mol Genet Metab; 2002 Jun; 76(2):137-44. PubMed ID: 12083811
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.
    Suess PJ; Tsai MY; Holzknecht RA; Horowitz M; Tuchman M
    Biochem Med Metab Biol; 1992 Jun; 47(3):250-9. PubMed ID: 1627356
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
    Zhang DL; Ji L; Li YD
    Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
    Meng LL; Jiang T; Qin L; Ma DY; Chen YL; Han SP; Yu ZB; Guo XR; Hu P; Xu ZF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):195-8. PubMed ID: 23568734
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
    Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
    Nowak KJ; Wattanasirichaigoon D; Goebel HH; Wilce M; Pelin K; Donner K; Jacob RL; Hübner C; Oexle K; Anderson JR; Verity CM; North KN; Iannaccone ST; Müller CR; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson AG; Swoboda KJ; Vigneron J; Wallgren-Pettersson C; Beggs AH; Laing NG
    Nat Genet; 1999 Oct; 23(2):208-12. PubMed ID: 10508519
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Human hypertension caused by mutations in the 11 beta-hydroxysteroid dehydrogenase gene: a molecular analysis of apparent mineralocorticoid excess.
    Whorwood CB; Stewart PM
    J Hypertens Suppl; 1996 Dec; 14(5):S19-24. PubMed ID: 9120678
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.