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 *

363 related articles for article (PubMed ID: 23621909)

  • 1. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.
    Trevisson E; Forzan M; Salviati L; Clementi M
    Clin Genet; 2014 Apr; 85(4):386-9. PubMed ID: 23621909
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.
    Bottillo I; Torrente I; Lanari V; Pinna V; Giustini S; Divona L; De Luca A; Dallapiccola B
    Am J Med Genet A; 2010 Jun; 152A(6):1467-73. PubMed ID: 20503322
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.
    Lázaro C; Ravella A; Gaona A; Volpini V; Estivill X
    N Engl J Med; 1994 Nov; 331(21):1403-7. PubMed ID: 7969279
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.
    Ejerskov C; Farholt S; Skovby F; Vestergaard EM; Haagerup A
    Clin Genet; 2016 Mar; 89(3):346-50. PubMed ID: 25872886
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
    Vogt J; Kohlhase J; Morlot S; Kluwe L; Mautner VF; Cooper DN; Kehrer-Sawatzki H
    Hum Mutat; 2011 Jun; 32(6):E2134-47. PubMed ID: 21618341
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.
    Consoli C; Moss C; Green S; Balderson D; Cooper DN; Upadhyaya M
    J Invest Dermatol; 2005 Sep; 125(3):463-6. PubMed ID: 16117786
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
    Anastasaki C; Woo AS; Messiaen LM; Gutmann DH
    Hum Mol Genet; 2015 Jun; 24(12):3518-28. PubMed ID: 25788518
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.
    Lázaro C; Gaona A; Lynch M; Kruyer H; Ravella A; Estivill X
    Am J Hum Genet; 1995 Nov; 57(5):1044-9. PubMed ID: 7485153
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism.
    Fernández-Rodríguez J; Castellsagué J; Benito L; Benavente Y; Capellá G; Blanco I; Serra E; Lázaro C
    Hum Mutat; 2011 Jul; 32(7):705-9. PubMed ID: 21394830
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.
    Bengesser K; Vogt J; Mussotter T; Mautner VF; Messiaen L; Cooper DN; Kehrer-Sawatzki H
    Hum Mutat; 2014 Feb; 35(2):215-26. PubMed ID: 24186807
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.
    Upadhyaya M; Han S; Consoli C; Majounie E; Horan M; Thomas NS; Potts C; Griffiths S; Ruggieri M; von Deimling A; Cooper DN
    Hum Mutat; 2004 Feb; 23(2):134-146. PubMed ID: 14722917
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
    Summerer A; Schäfer E; Mautner VF; Messiaen L; Cooper DN; Kehrer-Sawatzki H
    Hum Genet; 2019 Jan; 138(1):73-81. PubMed ID: 30478644
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.
    Ainsworth PJ; Chakraborty PK; Weksberg R
    Hum Mutat; 1997; 9(5):452-7. PubMed ID: 9143926
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.
    Boudry-Labis E; Roche-Lestienne C; Nibourel O; Boissel N; Terre C; Perot C; Eclache V; Gachard N; Tigaud I; Plessis G; Cuccuini W; Geffroy S; Villenet C; Figeac M; Leprêtre F; Renneville A; Cheok M; Soulier J; Dombret H; Preudhomme C;
    Am J Hematol; 2013 Apr; 88(4):306-11. PubMed ID: 23460398
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1].
    Peng C; Ma S; Tang X; Yang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):480-483. PubMed ID: 30098238
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
    Ko JM; Sohn YB; Jeong SY; Kim HJ; Messiaen LM
    Pediatr Neurol; 2013 Jun; 48(6):447-53. PubMed ID: 23668869
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.