BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

267 related articles for article (PubMed ID: 1353535)

  • 21. Clinical application of DNA analysis in a family with OTC deficiency.
    McClead RE; Rozen R; Fox J; Rosenberg L; Menke J; Bickers R; Morrow G
    Am J Med Genet; 1986 Nov; 25(3):513-8. PubMed ID: 2878615
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M; Jaleel N; Morizono H; Sheehy L; Lynch MG
    Hum Mutat; 2002 Feb; 19(2):93-107. PubMed ID: 11793468
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
    Oppliger Leibundgut E; Liechti-Gallati S; Colombo JP; Wermuth B
    Hum Mutat; 1997; 9(5):409-11. PubMed ID: 9143919
    [No Abstract]   [Full Text] [Related]  

  • 24. Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
    Cavicchi C; Malvagia S; la Marca G; Gasperini S; Donati MA; Zammarchi E; Guerrini R; Morrone A; Pasquini E
    J Pharm Biomed Anal; 2009 Jul; 49(5):1292-5. PubMed ID: 19359120
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.
    Batshaw ML; Roan Y; Jung AL; Rosenberg LA; Brusilow SW
    N Engl J Med; 1980 Feb; 302(9):482-5. PubMed ID: 7351973
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW; Kim GH; Lee DH
    J Inherit Metab Dis; 1996; 19(1):31-42. PubMed ID: 8830175
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].
    Matsuura T; Matsuda I
    Tanpakushitsu Kakusan Koso; 1990 Dec; 35(17):3113-9. PubMed ID: 2287729
    [No Abstract]   [Full Text] [Related]  

  • 28. H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
    Climent C; Rubio V
    Hum Mutat; 2002 Nov; 20(5):407-8. PubMed ID: 12402347
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Toward a molecular understanding of ornithine transcarbamylase deficiency.
    Fox JE; Rosenberg LE
    Adv Neurol; 1988; 48():71-81. PubMed ID: 2891259
    [No Abstract]   [Full Text] [Related]  

  • 31. Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
    Slomski R; Braulke I; Behrend C; Schröder E; Colombo JP; Reiss J
    Hum Genet; 1992 Aug; 89(6):632-4. PubMed ID: 1511981
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.
    Bowling F; McGown I; McGill J; Cowley D; Tuchman M
    Am J Med Genet; 1999 Aug; 85(5):452-4. PubMed ID: 10405441
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
    Tuchman M; Tsai MY; Holzknecht RA; Brusilow SW
    Pediatr Res; 1989 Jul; 26(1):77-82. PubMed ID: 2771513
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.
    Gyato K; Wray J; Huang ZJ; Yudkoff M; Batshaw ML
    Ann Neurol; 2004 Jan; 55(1):80-6. PubMed ID: 14705115
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.
    Short EM; Conn HO; Snodgrass PJ; Campbell AG; Rosenberg LE
    N Engl J Med; 1973 Jan; 288(1):7-12. PubMed ID: 4681915
    [No Abstract]   [Full Text] [Related]  

  • 36. Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.
    Hayasaka K; Metoki K; Ishiguro S; Kato S; Chiba T; Hirooka M; Kikuchi M; Kurobane I; Narisawa K; Tada K
    Eur J Pediatr; 1987 Jul; 146(4):370-2. PubMed ID: 3308467
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
    Tuchman M; Morizono H; Rajagopal BS; Plante RJ; Allewell NM
    J Inherit Metab Dis; 1998; 21 Suppl 1():40-58. PubMed ID: 9686344
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.
    Batshaw ML; Msall M; Beaudet AL; Trojak J
    J Pediatr; 1986 Feb; 108(2):236-41. PubMed ID: 3944708
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
    Sun WH; Yang Y; Zhang YP; Li XT; Zhang M; Cao Y; Wang Y
    Zhonghua Er Ke Za Zhi; 2011 May; 49(5):356-60. PubMed ID: 21624287
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.
    Yoo HW; Kim GH
    J Korean Med Sci; 1998 Apr; 13(2):179-85. PubMed ID: 9610619
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.