BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

440 related articles for article (PubMed ID: 20513137)

  • 1. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
    Pasmant E; Sabbagh A; Spurlock G; Laurendeau I; Grillo E; Hamel MJ; Martin L; Barbarot S; Leheup B; Rodriguez D; Lacombe D; Dollfus H; Pasquier L; Isidor B; Ferkal S; Soulier J; Sanson M; Dieux-Coeslier A; Bièche I; Parfait B; Vidaud M; Wolkenstein P; Upadhyaya M; Vidaud D;
    Hum Mutat; 2010 Jun; 31(6):E1506-18. PubMed ID: 20513137
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genomic organization and evolution of the NF1 microdeletion region.
    De Raedt T; Brems H; Lopez-Correa C; Vermeesch JR; Marynen P; Legius E
    Genomics; 2004 Aug; 84(2):346-60. PubMed ID: 15233998
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
    Bengesser K; Cooper DN; Steinmann K; Kluwe L; Chuzhanova NA; Wimmer K; Tatagiba M; Tinschert S; Mautner VF; Kehrer-Sawatzki H
    Hum Mutat; 2010 Jun; 31(6):742-51. PubMed ID: 20506354
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Childhood overgrowth in patients with common NF1 microdeletions.
    Spiegel M; Oexle K; Horn D; Windt E; Buske A; Albrecht B; Prott EC; Seemanová E; Seidel J; Rosenbaum T; Jenne D; Kehrer-Sawatzki H; Tinschert S
    Eur J Hum Genet; 2005 Jul; 13(7):883-8. PubMed ID: 15856072
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection and characterization of NF1 microdeletions by custom high resolution array CGH.
    Pasmant E; Sabbagh A; Masliah-Planchon J; Haddad V; Hamel MJ; Laurendeau I; Soulier J; Parfait B; Wolkenstein P; Bièche I; Vidaud M; Vidaud D
    J Mol Diagn; 2009 Nov; 11(6):524-9. PubMed ID: 19767589
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.
    Gervasini C; Venturin M; Orzan F; Friso A; Clementi M; Tenconi R; Larizza L; Riva P
    Genomics; 2005 Feb; 85(2):273-9. PubMed ID: 15676286
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
    De Luca A; Schirinzi A; Buccino A; Bottillo I; Sinibaldi L; Torrente I; Ciavarella A; Dottorini T; Porciello R; Giustini S; Calvieri S; Dallapiccola B
    Hum Mutat; 2004 Jun; 23(6):629. PubMed ID: 15146469
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
    Pasmant E; Sabbagh A; Hanna N; Masliah-Planchon J; Jolly E; Goussard P; Ballerini P; Cartault F; Barbarot S; Landman-Parker J; Soufir N; Parfait B; Vidaud M; Wolkenstein P; Vidaud D; France RN
    J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.
    Wiest V; Eisenbarth I; Schmegner C; Krone W; Assum G
    Hum Mutat; 2003 Dec; 22(6):423-7. PubMed ID: 14635100
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Atypical
    Kehrer-Sawatzki H; Wahlländer U; Cooper DN; Mautner VF
    Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34681033
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.
    De Raedt T; Maertens O; Chmara M; Brems H; Heyns I; Sciot R; Majounie E; Upadhyaya M; De Schepper S; Speleman F; Messiaen L; Vermeesch JR; Legius E
    Genes Chromosomes Cancer; 2006 Oct; 45(10):893-904. PubMed ID: 16830335
    [TBL] [Abstract][Full Text] [Related]  

  • 13. NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
    Grisart B; Rack K; Vidrequin S; Hilbert P; Deltenre P; Verellen-Dumoulin C; Destrée A
    Eur J Hum Genet; 2008 Mar; 16(3):305-11. PubMed ID: 18183042
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
    Bartsch O; Vlcková Z; Erdogan F; Ullmann R; Novotná D; Spiegel M; Beyer V; Haaf T; Zechner U; Seemanová E
    Cytogenet Genome Res; 2007; 119(1-2):158-64. PubMed ID: 18160797
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
    Roehl AC; Cooper DN; Kluwe L; Helbrich A; Wimmer K; Högel J; Mautner VF; Kehrer-Sawatzki H
    Hum Mutat; 2010 Mar; 31(3):325-34. PubMed ID: 20052761
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.
    Lopez Correa C; Brems H; Lázaro C; Estivill X; Clementi M; Mason S; Rutkowski JL; Marynen P; Legius E
    Hum Mutat; 1999; 14(5):387-93. PubMed ID: 10533064
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.
    Sharif S; Upadhyaya M; Ferner R; Majounie E; Shenton A; Baser M; Thakker N; Evans DG
    J Med Genet; 2011 Apr; 48(4):256-60. PubMed ID: 21278392
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.
    Streubel B; Latta E; Kehrer-Sawatzki H; Hoffmann GF; Fonatsch C; Rehder H
    Am J Med Genet; 1999 Nov; 87(1):12-6. PubMed ID: 10528240
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical
    Büki G; Zsigmond A; Czakó M; Szalai R; Antal G; Farkas V; Fekete G; Nagy D; Széll M; Tihanyi M; Melegh B; Hadzsiev K; Bene J
    Front Genet; 2021; 12():673025. PubMed ID: 34168676
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.
    Mensink KA; Ketterling RP; Flynn HC; Knudson RA; Lindor NM; Heese BA; Spinner RJ; Babovic-Vuksanovic D
    J Med Genet; 2006 Feb; 43(2):e8. PubMed ID: 16467218
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.