BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

292 related articles for article (PubMed ID: 17326097)

  • 41. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
    Mornet E; Taillandier A; Peyramaure S; Kaper F; Muller F; Brenner R; Bussière P; Freisinger P; Godard J; Le Merrer M; Oury JF; Plauchu H; Puddu R; Rival JM; Superti-Furga A; Touraine RL; Serre JL; Simon-Bouy B
    Eur J Hum Genet; 1998; 6(4):308-14. PubMed ID: 9781036
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
    Salvi S; Dionisi-Vici C; Bertini E; Verardo M; Santorelli FM
    Hum Mutat; 2001 Nov; 18(5):460. PubMed ID: 11668643
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
    Verot L; Chikh K; Freydière E; Honoré R; Vanier MT; Millat G
    Clin Genet; 2007 Apr; 71(4):320-30. PubMed ID: 17470133
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene.
    Liu HM; Lin JS; Chen PS; Lyou JY; Chen YJ; Tzeng CH
    Transfusion; 2009 Feb; 49(2):259-64. PubMed ID: 18980618
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
    Dreyer B; Brox V; Tranebjaerg L; Rosenberg T; Sadeghi AM; Möller C; Nilssen O
    Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273898
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
    Weisschuh N; Dressler P; Schuettauf F; Wolf C; Wissinger B; Gramer E
    Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3846-52. PubMed ID: 16936096
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
    Monnot S; Serre V; Chadefaux-Vekemans B; Aupetit J; Romano S; De Lonlay P; Rival JM; Munnich A; Steffann J; Bonnefont JP
    Hum Mutat; 2009 May; 30(5):734-40. PubMed ID: 19306334
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
    Stadler S; Gempel K; Bieger I; Pontz BF; Gerbitz KD; Bauer MF; Hofmann S
    J Inherit Metab Dis; 2001 Jun; 24(3):370-8. PubMed ID: 11486903
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
    Mohamed SA; Aherrahrou Z; Liptau H; Erasmi AW; Hagemann C; Wrobel S; Borzym K; Schunkert H; Sievers HH; Erdmann J
    Biochem Biophys Res Commun; 2006 Jul; 345(4):1460-5. PubMed ID: 16729972
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations.
    Owaidah TM; Alkhail HA; Zahrani HA; Musa AA; Saleh MA; Riash MA; Alodaib A; Abu Amero K
    Blood Coagul Fibrinolysis; 2009 Sep; 20(6):415-8. PubMed ID: 19448530
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
    Trevisson E; Burlina A; Doimo M; Pertegato V; Casarin A; Cesaro L; Navas P; Basso G; Sartori G; Salviati L
    J Biol Chem; 2009 Oct; 284(42):28926-34. PubMed ID: 19703900
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
    Houten SM; Koster J; Romeijn GJ; Frenkel J; Di Rocco M; Caruso U; Landrieu P; Kelley RI; Kuis W; Poll-The BT; Gibson KM; Wanders RJ; Waterham HR
    Eur J Hum Genet; 2001 Apr; 9(4):253-9. PubMed ID: 11313768
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
    Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
    Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.
    Djambas Khayat C; Salem N; Chouery E; Corbani S; Moix I; Nicolas E; Morris MA; de Moerloose P; Mégarbané A
    Haemophilia; 2008 Jul; 14(4):709-16. PubMed ID: 18479430
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
    Tomatsu S; Montaño AM; Nishioka T; Gutierrez MA; Peña OM; Tranda Firescu GG; Lopez P; Yamaguchi S; Noguchi A; Orii T
    Hum Mutat; 2005 Dec; 26(6):500-12. PubMed ID: 16287098
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
    Kimani JK; Wei T; Chol K; Li Y; Yu P; Ye S; Huang X; Qi M
    Clin Chim Acta; 2015 Jan; 438():323-9. PubMed ID: 25179242
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Genetic approach to prenatal diagnosis in urea cycle defects.
    Häberle J; Koch HG
    Prenat Diagn; 2004 May; 24(5):378-83. PubMed ID: 15164414
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
    Kim SW; Jung J; Oh HJ; Kim J; Lee KS; Lee DH; Park C; Kimm K; Koo SK; Jung SC
    Clin Chim Acta; 2006 Mar; 365(1-2):279-87. PubMed ID: 16253218
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
    Brun-Heath I; Taillandier A; Serre JL; Mornet E
    Mol Genet Metab; 2005 Mar; 84(3):273-7. PubMed ID: 15694177
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
    Sun H; Zhang Y; Liu X; Ma X; Wu H; Xu K; Qin J; Qi Y; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):121-7. PubMed ID: 19350499
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.