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 *

442 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 23.