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 *

94 related articles for article (PubMed ID: 7496072)

  • 61. Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.
    Molho-Pessach V; Rios JJ; Xing C; Setchell KD; Cohen JC; Hobbs HH
    Hepatology; 2012 Apr; 55(4):1139-45. PubMed ID: 22095780
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.
    Doeker BM; Pfäffle RW; Pohlenz J; Andler W
    J Clin Endocrinol Metab; 1998 May; 83(5):1762-5. PubMed ID: 9589689
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency.
    Kim HJ; Kim HJ; Kwon EH; Lee KO; Park IA; Kim SH
    Blood Coagul Fibrinolysis; 2010 Oct; 21(7):683-6. PubMed ID: 20729721
    [TBL] [Abstract][Full Text] [Related]  

  • 64. A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia.
    Hirono A; Sasaya-Hamada F; Kanno H; Fujii H; Yoshida T; Miwa S
    Blood Cells Mol Dis; 1995; 21(3):232-4. PubMed ID: 8673475
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.
    Caron P; Moya CM; Malet D; Gutnisky VJ; Chabardes B; Rivolta CM; Targovnik HM
    J Clin Endocrinol Metab; 2003 Aug; 88(8):3546-53. PubMed ID: 12915634
    [TBL] [Abstract][Full Text] [Related]  

  • 66. A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations.
    Kahmann S; Herter P; Kuhnen C; Müller KM; Muhr G; Martin D; Soddemann M; Müller O
    Hum Mutat; 2002 Feb; 19(2):165-72. PubMed ID: 11793475
    [TBL] [Abstract][Full Text] [Related]  

  • 67. [A family of pseudocholinesterase deficiency (silent type II)].
    Yokota H; Toyota S; Ohkubo S; Kamei S; Uchimura H; Okubo A; Houzumi M; Sudo K; Sakamoto Y
    Rinsho Byori; 1989 Oct; 37(10):1177-80. PubMed ID: 2601076
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.
    Hidaka K; Iuchi I; Tomita M; Watanabe Y; Minatogawa Y; Iwasaki K; Gotoh K; Shimizu C
    Ann Hum Genet; 1997 Nov; 61(Pt 6):491-6. PubMed ID: 9543549
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Family of a patient with serum cholinesterase deficiency.
    Ohara M; Hirohata M; Toshimori T; Miyatani H; Okamoto R; Hirasaki S; Kumashiro H; Moritani H; Tominaga Y; Imai M
    Intern Med; 1992 Mar; 31(3):397-9. PubMed ID: 1611195
    [TBL] [Abstract][Full Text] [Related]  

  • 70. A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis.
    Hada T; Muratani K; Ohue T; Imanishi H; Moriwaki Y; Itoh M; Amuro Y; Higashino K
    Intern Med; 1992 Mar; 31(3):357-62. PubMed ID: 1611188
    [TBL] [Abstract][Full Text] [Related]  

  • 71. A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.
    Hayette S; Dhermy D; dos Santos ME; Bozon M; Drenckhahn D; Alloisio N; Texier P; Delaunay J; Morlé L
    Blood; 1995 Jan; 85(1):250-6. PubMed ID: 7803799
    [TBL] [Abstract][Full Text] [Related]  

  • 72. UNUSUAL URINARY COMPOUND IN PATIENTS HOMOZYGOUS FOR HEREDITARY ATYPICAL SERUM CHOLINESTERASE.
    RUBINSTEIN HM; DIETZ AA; CZEBOTAR V
    Nature; 1964 May; 202():705. PubMed ID: 14190044
    [No Abstract]   [Full Text] [Related]  

  • 73. A single base-pair deletion in the protein C gene causing recurrent thromboembolism.
    Grundy C; Plendl H; Grote W; Zoll B; Kakkar VV; Cooper DN
    Thromb Res; 1991 Feb; 61(3):335-40. PubMed ID: 2028449
    [No Abstract]   [Full Text] [Related]  

  • 74. Inheritance of two types of deficiency of human serum cholinesterase.
    Scott EM
    Ann Hum Genet; 1973 Oct; 37(2):139-43. PubMed ID: 4768552
    [No Abstract]   [Full Text] [Related]  

  • 75. Silent gene for serum-cholinesterase.
    Heyworth R; Firth HM
    Lancet; 1967 Dec; 2(7531):1422. PubMed ID: 4170078
    [No Abstract]   [Full Text] [Related]  

  • 76. A pharmacogenetic study of a family exhibiting atypical and "silent" genes for plasma cholinesterase.
    Ernst EA; Smith JC
    Anesthesiology; 1967; 28(6):1085-9. PubMed ID: 6054213
    [No Abstract]   [Full Text] [Related]  

  • 77. Silent cholinesterase gene--report of a family.
    Prince LC; Garry PJ; Lubin AH
    Anesthesiology; 1972 Dec; 37(6):652-3. PubMed ID: 4652784
    [No Abstract]   [Full Text] [Related]  

  • 78. General remarks on genetic factors in anesthesia.
    Motulsky AG
    Humangenetik; 1970; 9(3):246-8. PubMed ID: 5451688
    [No Abstract]   [Full Text] [Related]  

  • 79. [A family of silent type pseudocholinesterasemia].
    Saho M; Kikuchi H; Watanabe M; Hori Y; Yokoyama K; Nakagawa S
    Nihon Naika Gakkai Zasshi; 1988 May; 77(5):709-11. PubMed ID: 3216142
    [No Abstract]   [Full Text] [Related]  

  • 80. New mutation site of cholinesterase gene.
    Takagi H; Mori M
    Intern Med; 1997 Jan; 36(1):1-2. PubMed ID: 9058091
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.