376 related articles for article (PubMed ID: 29290338)
1. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M; Chen Y; Callens T; Gomes A; Sharp A; Johnson S; Hsiao MC; Chen Z; Balasubramanian M; Barnett CP; Becker TA; Ben-Shachar S; Bertola DR; Blakeley JO; Burkitt-Wright EMM; Callaway A; Crenshaw M; Cunha KS; Cunningham M; D'Agostino MD; Dahan K; De Luca A; Destrée A; Dhamija R; Eoli M; Evans DGR; Galvin-Parton P; George-Abraham JK; Gripp KW; Guevara-Campos J; Hanchard NA; Hernández-Chico C; Immken L; Janssens S; Jones KJ; Keena BA; Kochhar A; Liebelt J; Martir-Negron A; Mahoney MJ; Maystadt I; McDougall C; McEntagart M; Mendelsohn N; Miller DT; Mortier G; Morton J; Pappas J; Plotkin SR; Pond D; Rosenbaum K; Rubin K; Russell L; Rutledge LS; Saletti V; Schonberg R; Schreiber A; Seidel M; Siqveland E; Stockton DW; Trevisson E; Ullrich NJ; Upadhyaya M; van Minkelen R; Verhelst H; Wallace MR; Yap YS; Zackai E; Zonana J; Zurcher V; Claes K; Martin Y; Korf BR; Legius E; Messiaen LM
Am J Hum Genet; 2018 Jan; 102(1):69-87. PubMed ID: 29290338
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Rojnueangnit K; Xie J; Gomes A; Sharp A; Callens T; Chen Y; Liu Y; Cochran M; Abbott MA; Atkin J; Babovic-Vuksanovic D; Barnett CP; Crenshaw M; Bartholomew DW; Basel L; Bellus G; Ben-Shachar S; Bialer MG; Bick D; Blumberg B; Cortes F; David KL; Destree A; Duat-Rodriguez A; Earl D; Escobar L; Eswara M; Ezquieta B; Frayling IM; Frydman M; Gardner K; Gripp KW; Hernández-Chico C; Heyrman K; Ibrahim J; Janssens S; Keena BA; Llano-Rivas I; Leppig K; McDonald M; Misra VK; Mulbury J; Narayanan V; Orenstein N; Galvin-Parton P; Pedro H; Pivnick EK; Powell CM; Randolph L; Raskin S; Rosell J; Rubin K; Seashore M; Schaaf CP; Scheuerle A; Schultz M; Schorry E; Schnur R; Siqveland E; Tkachuk A; Tonsgard J; Upadhyaya M; Verma IC; Wallace S; Williams C; Zackai E; Zonana J; Lazaro C; Claes K; Korf B; Martin Y; Legius E; Messiaen L
Hum Mutat; 2015 Nov; 36(11):1052-63. PubMed ID: 26178382
[TBL] [Abstract][Full Text] [Related]
4. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M; Callens T; Gomes A; Sharp A; Chen Y; Hicks AD; Aylsworth AS; Azizi AA; Basel DG; Bellus G; Bird LM; Blazo MA; Burke LW; Cannon A; Collins F; DeFilippo C; Denayer E; Digilio MC; Dills SK; Dosa L; Greenwood RS; Griffis C; Gupta P; Hachen RK; Hernández-Chico C; Janssens S; Jones KJ; Jordan JT; Kannu P; Korf BR; Lewis AM; Listernick RH; Lonardo F; Mahoney MJ; Ojeda MM; McDonald MT; McDougall C; Mendelsohn N; Miller DT; Mori M; Oostenbrink R; Perreault S; Pierpont ME; Piscopo C; Pond DA; Randolph LM; Rauen KA; Rednam S; Rutledge SL; Saletti V; Schaefer GB; Schorry EK; Scott DA; Shugar A; Siqveland E; Starr LJ; Syed A; Trapane PL; Ullrich NJ; Wakefield EG; Walsh LE; Wangler MF; Zackai E; Claes KBM; Wimmer K; van Minkelen R; De Luca A; Martin Y; Legius E; Messiaen LM
Genet Med; 2019 Apr; 21(4):867-876. PubMed ID: 30190611
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy A; Chuzhanova N; Kini U; Cooper DN; Upadhyaya M
Hum Genomics; 2012 Aug; 6(1):12. PubMed ID: 23244495
[TBL] [Abstract][Full Text] [Related]
6. Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
Li K; Turner AN; Chen M; Brosius SN; Schoeb TR; Messiaen LM; Bedwell DM; Zinn KR; Anastasaki C; Gutmann DH; Korf BR; Kesterson RA
Dis Model Mech; 2016 Jul; 9(7):759-67. PubMed ID: 27482814
[TBL] [Abstract][Full Text] [Related]
7. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V; Lanari V; Daniele P; Consoli F; Agolini E; Margiotti K; Bottillo I; Torrente I; Bruselles A; Fusilli C; Ficcadenti A; Bargiacchi S; Trevisson E; Forzan M; Giustini S; Leoni C; Zampino G; Digilio MC; Dallapiccola B; Clementi M; Tartaglia M; De Luca A
Eur J Hum Genet; 2015 Aug; 23(8):1068-71. PubMed ID: 25370043
[TBL] [Abstract][Full Text] [Related]
8. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
[TBL] [Abstract][Full Text] [Related]
9. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M; Huson SM; Davies M; Thomas N; Chuzhanova N; Giovannini S; Evans DG; Howard E; Kerr B; Griffiths S; Consoli C; Side L; Adams D; Pierpont M; Hachen R; Barnicoat A; Li H; Wallace P; Van Biervliet JP; Stevenson D; Viskochil D; Baralle D; Haan E; Riccardi V; Turnpenny P; Lazaro C; Messiaen L
Am J Hum Genet; 2007 Jan; 80(1):140-51. PubMed ID: 17160901
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort.
Zhu B; Zheng T; Wang W; Gu Y; Wei C; Li Q; Wang Z
J Neurol; 2024 Apr; 271(4):1893-1900. PubMed ID: 38095723
[TBL] [Abstract][Full Text] [Related]
12. Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E; Kim YM; Seo GH; Oh A; Yoon HM; Ra YS; Kim EK; Kim H; Heo SH; Kim GH; Osborn MJ; Tolar J; Yoo HW; Lee BH
J Hum Genet; 2020 Jan; 65(2):79-89. PubMed ID: 31776437
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.
Chen L; Xue F; Xu J; He J; Fu W; Zhang Z; Kang Q
Mol Genet Genomic Med; 2019 Sep; 7(9):e904. PubMed ID: 31347283
[TBL] [Abstract][Full Text] [Related]
15. Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.
Mao B; Chen S; Chen X; Yu X; Zhai X; Yang T; Li L; Wang Z; Zhao X; Zhang X
BMC Med Genet; 2018 Jun; 19(1):101. PubMed ID: 29914388
[TBL] [Abstract][Full Text] [Related]
16. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A; Bottillo I; Sarkozy A; Carta C; Neri C; Bellacchio E; Schirinzi A; Conti E; Zampino G; Battaglia A; Majore S; Rinaldi MM; Carella M; Marino B; Pizzuti A; Digilio MC; Tartaglia M; Dallapiccola B
Am J Hum Genet; 2005 Dec; 77(6):1092-101. PubMed ID: 16380919
[TBL] [Abstract][Full Text] [Related]
17. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
Mußotter T; Kluwe L; Högel J; Nguyen R; Cooper DN; Mautner VF; Kehrer-Sawatzki H
BMC Med Genet; 2012 Oct; 13():98. PubMed ID: 23101500
[TBL] [Abstract][Full Text] [Related]
18. NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.
Ponti G; Martorana D; Pellacani G; Ruini C; Loschi P; Baccarani A; De Santis G; Pollio A; Neri TM; Mandel VD; Maiorana A; Maccio L; Maccaferri M; Tomasi A
Anticancer Res; 2014 Jun; 34(6):3021-30. PubMed ID: 24922668
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
Ece Solmaz A; Isik E; Atik T; Ozkinay F; Onay H
Clin Neurol Neurosurg; 2021 Sep; 208():106884. PubMed ID: 34418705
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
