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 *

420 related articles for article (PubMed ID: 16479075)

  • 21. Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours.
    Prasad BCM; Chandra VVR; Sudarsan A; Kumar PS; Sarma PVGK
    J Clin Neurosci; 2018 Jul; 53():62-68. PubMed ID: 29680440
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
    Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
    Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
    [TBL] [Abstract][Full Text] [Related]  

  • 23. NF1 gene analysis based on DHPLC.
    De Luca A; Buccino A; Gianni D; Mangino M; Giustini S; Richetta A; Divona L; Calvieri S; Mingarelli R; Dallapiccola B
    Hum Mutat; 2003 Feb; 21(2):171-2. PubMed ID: 12552569
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.
    Terzi YK; Oguzkan-Balci S; Anlar B; Aysun S; Guran S; Ayter S
    Genet Couns; 2009; 20(2):195-202. PubMed ID: 19650418
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
    Thomas L; Richards M; Mort M; Dunlop E; Cooper DN; Upadhyaya M
    Hum Mutat; 2012 Dec; 33(12):1687-96. PubMed ID: 22807134
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
    Messiaen LM; Callens T; Mortier G; Beysen D; Vandenbroucke I; Van Roy N; Speleman F; Paepe AD
    Hum Mutat; 2000; 15(6):541-55. PubMed ID: 10862084
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
    van Minkelen R; van Bever Y; Kromosoeto JN; Withagen-Hermans CJ; Nieuwlaat A; Halley DJ; van den Ouweland AM
    Clin Genet; 2014 Apr; 85(4):318-27. PubMed ID: 23656349
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene.
    Böddrich A; Griesser J; Horn D; Kaufmann D; Krone W; Nürnberg P
    Biochem Biophys Res Commun; 1995 Sep; 214(3):895-904. PubMed ID: 7575561
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
    Abramowicz A; Gos M
    Dev Period Med; 2014; 18(3):297-306. PubMed ID: 25182393
    [TBL] [Abstract][Full Text] [Related]  

  • 30. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
    Pros E; Larriba S; López E; Ravella A; Gili ML; Kruyer H; Valls J; Serra E; Lázaro C
    Hum Mutat; 2006 Nov; 27(11):1104-14. PubMed ID: 16937374
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
    Bausch B; Borozdin W; Mautner VF; Hoffmann MM; Boehm D; Robledo M; Cascon A; Harenberg T; Schiavi F; Pawlu C; Peczkowska M; Letizia C; Calvieri S; Arnaldi G; Klingenberg-Noftz RD; Reisch N; Fassina A; Brunaud L; Walter MA; Mannelli M; MacGregor G; Palazzo FF; Barontini M; Walz MK; Kremens B; Brabant G; Pfäffle R; Koschker AC; Lohoefner F; Mohaupt M; Gimm O; Jarzab B; McWhinney SR; Opocher G; Januszewicz A; Kohlhase J; Eng C; Neumann HP;
    J Clin Endocrinol Metab; 2007 Jul; 92(7):2784-92. PubMed ID: 17426081
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Molecular genetic analyses in neurofibromatosis type 1 patients with tumors.
    Oguzkan S; Terzi YK; Cinbis M; Anlar B; Aysun S; Ayter S
    Cancer Genet Cytogenet; 2006 Mar; 165(2):167-71. PubMed ID: 16527612
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
    Trevisson E; Morbidoni V; Forzan M; Daolio C; Fumini V; Parrozzani R; Cassina M; Midena E; Salviati L; Clementi M
    Mol Genet Genomic Med; 2019 May; 7(5):e616. PubMed ID: 30843352
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].
    Zhao X; Zhou Q; Cai L; Zhao Z; Zhang L; Wang P; Zhang G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):489-492. PubMed ID: 30098240
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
    Pros E; Fernández-Rodríguez J; Canet B; Benito L; Sánchez A; Benavides A; Ramos FJ; López-Ariztegui MA; Capellá G; Blanco I; Serra E; Lázaro C
    Hum Mutat; 2009 Mar; 30(3):454-62. PubMed ID: 19241459
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
    Palma Milla C; Lezana Rosales JM; López Montiel J; Andrés Garrido LD; Sánchez Linares C; Carmona Tamajón S; Torres Fernández C; Sánchez González P; Franco Freire S; Benito López C; López Siles J
    Ann Hum Genet; 2018 Nov; 82(6):425-436. PubMed ID: 30014477
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Genetics of type 1 neurofibromatosis].
    Garavelli L; Donadio A; Sigorini M; Grassi L; Banchini G
    Acta Biomed Ateneo Parmense; 2000; 71(3-4):89-95. PubMed ID: 11424621
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.
    Fang LJ; Simard MJ; Vidaud D; Assouline B; Lemieux B; Vidaud M; Chabot B; Thirion JP
    J Mol Biol; 2001 Apr; 307(5):1261-70. PubMed ID: 11292340
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
    Mautner VF; Kluwe L; Friedrich RE; Roehl AC; Bammert S; Högel J; Spöri H; Cooper DN; Kehrer-Sawatzki H
    J Med Genet; 2010 Sep; 47(9):623-30. PubMed ID: 20543202
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.
    Xiao H; Yuan L; Xu H; Yang Z; Huang F; Song Z; Yang Y; Zeng C; Deng H
    J Mol Neurosci; 2018 Aug; 65(4):557-563. PubMed ID: 30046999
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 21.