BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

76 related articles for article (PubMed ID: 17914445)

  • 1. Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.
    De Schepper S; Maertens O; Callens T; Naeyaert JM; Lambert J; Messiaen L
    J Invest Dermatol; 2008 Apr; 128(4):1050-3. PubMed ID: 17914445
    [No Abstract]   [Full Text] [Related]  

  • 2. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
    Banerjee S; Lei D; Liang S; Yang L; Liu S; Wei Z; Tang JP
    Oncotarget; 2017 Jun; 8(24):39695-39702. PubMed ID: 27980226
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
    Koczkowska M; Callens T; Chen Y; Gomes A; Hicks AD; Sharp A; Johns E; Uhas KA; Armstrong L; Bosanko KA; Babovic-Vuksanovic D; Baker L; Basel DG; Bengala M; Bennett JT; Chambers C; Clarkson LK; Clementi M; Cortés FM; Cunningham M; D'Agostino MD; Delatycki MB; Digilio MC; Dosa L; Esposito S; Fox S; Freckmann ML; Fauth C; Giugliano T; Giustini S; Goetsch A; Goldberg Y; Greenwood RS; Griffis C; Gripp KW; Gupta P; Haan E; Hachen RK; Haygarth TL; Hernández-Chico C; Hodge K; Hopkin RJ; Hudgins L; Janssens S; Keller K; Kelly-Mancuso G; Kochhar A; Korf BR; Lewis AM; Liebelt J; Lichty A; Listernick RH; Lyons MJ; Maystadt I; Martinez Ojeda M; McDougall C; McGregor LK; Melis D; Mendelsohn N; Nowaczyk MJM; Ortenberg J; Panzer K; Pappas JG; Pierpont ME; Piluso G; Pinna V; Pivnick EK; Pond DA; Powell CM; Rogers C; Ruhrman Shahar N; Rutledge SL; Saletti V; Sandaradura SA; Santoro C; Schatz UA; Schreiber A; Scott DA; Sellars EA; Sheffer R; Siqveland E; Slopis JM; Smith R; Spalice A; Stockton DW; Streff H; Theos A; Tomlinson GE; Tran G; Trapane PL; Trevisson E; Ullrich NJ; Van den Ende J; Schrier Vergano SA; Wallace SE; Wangler MF; Weaver DD; Yohay KH; Zackai E; Zonana J; Zurcher V; Claes KBM; Eoli M; Martin Y; Wimmer K; De Luca A; Legius E; Messiaen LM
    Hum Mutat; 2020 Jan; 41(1):299-315. PubMed ID: 31595648
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
    Castellanos E; Rosas I; Negro A; Gel B; Alibés A; Baena N; Pineda M; Pi G; Pintos G; Salvador H; Lázaro C; Blanco I; Vilageliu L; Brems H; Grinberg D; Legius E; Serra E
    Clin Genet; 2020 Feb; 97(2):264-275. PubMed ID: 31573083
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
    Zhu G; Zheng Y; Liu Y; Yan A; Hu Z; Yang Y; Xiang S; Li L; Chen W; Peng Y; Zhong N; Mei H
    Orphanet J Rare Dis; 2019 Sep; 14(1):221. PubMed ID: 31533797
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
    Giugliano T; Santoro C; Torella A; Del Vecchio Blanco F; Grandone A; Onore ME; Melone MAB; Straccia G; Melis D; Piccolo V; Limongelli G; Buono S; Perrotta S; Nigro V; Piluso G
    Genes (Basel); 2019 Jul; 10(8):. PubMed ID: 31370276
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neurofibromatosis type 1.
    Gutmann DH; Ferner RE; Listernick RH; Korf BR; Wolters PL; Johnson KJ
    Nat Rev Dis Primers; 2017 Feb; 3():17004. PubMed ID: 28230061
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1.
    Uusitalo E; Rantanen M; Kallionpää RA; Pöyhönen M; Leppävirta J; Ylä-Outinen H; Riccardi VM; Pukkala E; Pitkäniemi J; Peltonen S; Peltonen J
    J Clin Oncol; 2016 Jun; 34(17):1978-86. PubMed ID: 26926675
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
    Nasi L; Alexopoulos A; Kokkinou E; Roka K; Tzetis M; Tsipi M; Kakourou T; Kanaka-Gantenbein C; Chrousos G; Kattamis A; Pons R;
    Acta Derm Venereol; 2023 Jun; 103():adv5758. PubMed ID: 37272364
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.
    Stella A; Lastella P; Viggiano L; Bagnulo R; Resta N
    Hum Mutat; 2022 Oct; 43(10):1354-1360. PubMed ID: 35723633
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Neurofibromin and suppression of tumorigenesis: beyond the GAP.
    Mo J; Moye SL; McKay RM; Le LQ
    Oncogene; 2022 Feb; 41(9):1235-1251. PubMed ID: 35066574
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
    Kehrer-Sawatzki H; Cooper DN
    Hum Genet; 2022 Feb; 141(2):177-191. PubMed ID: 34928431
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).
    Gorenjak M; Fijačko N; Bogomir Marko P; Živanović M; Potočnik U
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1841. PubMed ID: 34716665
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.
    Wang W; Wei CJ; Cui XW; Li YH; Gu YH; Gu B; Li QF; Wang ZC
    Front Neurol; 2021; 12():704639. PubMed ID: 34566848
    [TBL] [Abstract][Full Text] [Related]  

  • 15.
    Larribère L; Utikal J
    J Clin Med; 2021 Jul; 10(15):. PubMed ID: 34362135
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
    Legius E; Messiaen L; Wolkenstein P; Pancza P; Avery RA; Berman Y; Blakeley J; Babovic-Vuksanovic D; Cunha KS; Ferner R; Fisher MJ; Friedman JM; Gutmann DH; Kehrer-Sawatzki H; Korf BR; Mautner VF; Peltonen S; Rauen KA; Riccardi V; Schorry E; Stemmer-Rachamimov A; Stevenson DA; Tadini G; Ullrich NJ; Viskochil D; Wimmer K; Yohay K; ; Huson SM; Evans DG; Plotkin SR
    Genet Med; 2021 Aug; 23(8):1506-1513. PubMed ID: 34012067
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
    Scala M; Schiavetti I; Madia F; Chelleri C; Piccolo G; Accogli A; Riva A; Salpietro V; Bocciardi R; Morcaldi G; Di Duca M; Caroli F; Verrico A; Milanaccio C; Viglizzo G; Traverso M; Baldassari S; Scudieri P; Iacomino M; Piatelli G; Minetti C; Striano P; Garrè ML; De Marco P; Diana MC; Capra V; Pavanello M; Zara F
    Cancers (Basel); 2021 Apr; 13(8):. PubMed ID: 33919865
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SPRED proteins and their roles in signal transduction, development, and malignancy.
    Lorenzo C; McCormick F
    Genes Dev; 2020 Nov; 34(21-22):1410-1421. PubMed ID: 33872193
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 4.