BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 16977596)

  • 21. A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
    Zhou YK; Yang XC; Cao Y; Su H; Liu L; Liang Z; Zheng Y
    BMC Med Genet; 2018 Dec; 19(Suppl 1):214. PubMed ID: 30598092
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Analysis of mutations in the XPD gene in a patient with brittle hair.
    Shin S; Kim J; Kim Y; Sun JY; Yoo JH; Lee KA
    Ann Clin Lab Sci; 2013; 43(3):323-7. PubMed ID: 23884229
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
    Giglia-Mari G; Coin F; Ranish JA; Hoogstraten D; Theil A; Wijgers N; Jaspers NG; Raams A; Argentini M; van der Spek PJ; Botta E; Stefanini M; Egly JM; Aebersold R; Hoeijmakers JH; Vermeulen W
    Nat Genet; 2004 Jul; 36(7):714-9. PubMed ID: 15220921
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
    Uyanik G; Morris-Rosendahl DJ; Stiegler J; Klapecki J; Gross C; Berman Y; Martin P; Dey L; Spranger S; Korenke GC; Schreyer I; Hertzberg C; Neumann TE; Burkart P; Spaich C; Meng M; Holthausen H; Adès L; Seidel J; Mangold E; Buyse G; Meinecke P; Schara U; Zeschnigk C; Muller D; Helland G; Schulze B; Wright ML; Kortge-Jung S; Hehr A; Bogdahn U; Schuierer G; Kohlhase J; Aigner L; Wolff G; Hehr U; Winkler J
    Neurology; 2007 Jul; 69(5):442-7. PubMed ID: 17664403
    [TBL] [Abstract][Full Text] [Related]  

  • 25. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
    Yanagisawa A; Bouchet C; Van den Bergh PY; Cuisset JM; Viollet L; Leturcq F; Romero NB; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
    Neurology; 2007 Sep; 69(12):1254-60. PubMed ID: 17634419
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
    Iwańczak F; Smigiel R; Stawarski A; Pawłowicz J; Stembalska A; Mowszet K; Sasiadek M
    Pol Merkur Lekarski; 2005 Feb; 18(104):205-9. PubMed ID: 17877132
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Central osteosclerosis with trichothiodystrophy.
    Wakeling EL; Cruwys M; Suri M; Brady AF; Aylett SE; Hall C
    Pediatr Radiol; 2004 Jul; 34(7):541-6. PubMed ID: 15148554
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
    Collins SM; Dominguez M; Ilmarinen T; Costigan C; Irvine AD
    Br J Dermatol; 2006 Jun; 154(6):1088-93. PubMed ID: 16704638
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Splitting hairs--discovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy.
    Cleaver JE
    DNA Repair (Amst); 2005 Feb; 4(2):285-7. PubMed ID: 15590337
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
    Chen E; Cleaver JE; Weber CA; Packman S; Barkovich AJ; Koch TK; Williams ML; Golabi M; Price VH
    J Invest Dermatol; 1994 Nov; 103(5 Suppl):154S-158S. PubMed ID: 7963680
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
    Gupta PK; Saxena R; Adamtziki E; Budde U; Oyen F; Obser T; Schneppenheim R
    Blood Cells Mol Dis; 2008; 41(2):219-22. PubMed ID: 18485763
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.
    Herrmann FH; Wulff K; Auerswald G; Schulman S; Astermark J; Batorova A; Kreuz W; Pollmann H; Ruiz-Saez A; De Bosch N; Salazar-Sanchez L;
    Haemophilia; 2009 Jan; 15(1):267-80. PubMed ID: 18976247
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Transcriptional changes in trichothiodystrophy cells.
    Offman J; Jina N; Theron T; Pallas J; Hubank M; Lehmann A
    DNA Repair (Amst); 2008 Aug; 7(8):1364-71. PubMed ID: 18579452
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Sabinas syndrome in monozygotic twins.
    López-García DR; Salas-Alanis JC; Christiano AM; Ocampo-Candiani J; Gómez-Flores M
    Clin Exp Dermatol; 2009 Jul; 34(5):e94-8. PubMed ID: 19438561
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
    Yoshioka M; Higuchi Y; Fujii T; Aiba H; Toda T
    Brain Dev; 2008 Jan; 30(1):59-67. PubMed ID: 17597323
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.
    Zenteno JC; Correa-Gomez V; Santacruz-Valdez C; Suarez-Sanchez R; Villanueva-Mendoza C
    Exp Eye Res; 2009 Aug; 89(2):172-7. PubMed ID: 19303004
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene.
    Herrmann FH; Auerswald G; Ruiz-Saez A; Navarrete M; Pollmann H; Lopaciuk S; Batorova A; Wulff K;
    Haemophilia; 2006 Sep; 12(5):479-89. PubMed ID: 16919077
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
    Prokisch H; Hartig M; Hellinger R; Meitinger T; Rosenberg T
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4012-8. PubMed ID: 17724181
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy.
    Vitorino M; Coin F; Zlobinskaya O; Atkinson RA; Moras D; Egly JM; Poterszman A; Kieffer B
    J Mol Biol; 2007 Apr; 368(2):473-80. PubMed ID: 17350038
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
    Mihaylova V; Hantke J; Sinigerska I; Cherninkova S; Raicheva M; Bouwer S; Tincheva R; Khuyomdziev D; Bertranpetit J; Chandler D; Angelicheva D; Kremensky I; Seeman P; Tournev I; Kalaydjieva L
    Brain; 2007 Apr; 130(Pt 4):1050-61. PubMed ID: 17360762
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.