226 related articles for article (PubMed ID: 34346503)
21. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
Bertola DR; Pereira AC; Passetti F; de Oliveira PS; Messiaen L; Gelb BD; Kim CA; Krieger JE
Am J Med Genet A; 2005 Jul; 136(3):242-5. PubMed ID: 15948193
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Dalili S; Hoseini Nouri SA; Bayat R; Koohmanaee S; Tabrizi M; Zarkesh M; Tarang A; Mahdieh N
Hum Genomics; 2023 Feb; 17(1):12. PubMed ID: 36803953
[TBL] [Abstract][Full Text] [Related]
24. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
Ekvall S; Hagenäs L; Allanson J; Annerén G; Bondeson ML
Am J Med Genet A; 2011 Jun; 155A(6):1217-24. PubMed ID: 21548061
[TBL] [Abstract][Full Text] [Related]
25. Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA.
Wallis D; Li K; Lui H; Hu K; Chen MJ; Li J; Kang J; Das S; Korf BR; Kesterson RA
Hum Mutat; 2018 Jun; 39(6):816-821. PubMed ID: 29522274
[TBL] [Abstract][Full Text] [Related]
26. One
Pacot L; Burin des Roziers C; Laurendeau I; Briand-Suleau A; Coustier A; Mayard T; Tlemsani C; Faivre L; Thomas Q; Rodriguez D; Blesson S; Dollfus H; Muller YG; Parfait B; Vidaud M; Gilbert-Dussardier B; Yardin C; Dauriat B; Derancourt C; Vidaud D; Pasmant E
Genes (Basel); 2019 Aug; 10(9):. PubMed ID: 31443423
[TBL] [Abstract][Full Text] [Related]
27. Genetics of neurofibromatosis 1 and the NF1 gene.
Viskochil D
J Child Neurol; 2002 Aug; 17(8):562-70; discussion 571-2, 646-51. PubMed ID: 12403554
[TBL] [Abstract][Full Text] [Related]
28. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.
Xiao H; Yuan L; Xu H; Yang Z; Huang F; Song Z; Yang Y; Zeng C; Deng H
J Mol Neurosci; 2018 Aug; 65(4):557-563. PubMed ID: 30046999
[TBL] [Abstract][Full Text] [Related]
29. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Sabbagh A; Pasmant E; Imbard A; Luscan A; Soares M; Blanché H; Laurendeau I; Ferkal S; Vidaud M; Pinson S; Bellanné-Chantelot C; Vidaud D; Parfait B; Wolkenstein P
Hum Mutat; 2013 Nov; 34(11):1510-8. PubMed ID: 23913538
[TBL] [Abstract][Full Text] [Related]
30. Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE; Zarate YA; Hagenbuch S; Lovell A; Schorry EK; Hopkin RJ
Am J Med Genet A; 2011 Jun; 155A(6):1360-6. PubMed ID: 21567923
[TBL] [Abstract][Full Text] [Related]
31. The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family.
Yang Q; Huang C; Yang X; Feng Y; Wang Q; Liu M
J Genet Genomics; 2008 Feb; 35(2):73-6. PubMed ID: 18407053
[TBL] [Abstract][Full Text] [Related]
32. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
Corsello G; Antona V; Serra G; Zara F; Giambrone C; Lagalla L; Piccione M; Piro E
Ital J Pediatr; 2018 Apr; 44(1):45. PubMed ID: 29618358
[TBL] [Abstract][Full Text] [Related]
33. Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
Courtney E; Chan SH; Li ST; Ishak D; Merchant K; Shaw T; Chay WY; Chin FHX; Wong WL; Wong A; Ngeow J
Fam Cancer; 2020 Oct; 19(4):353-358. PubMed ID: 32405727
[TBL] [Abstract][Full Text] [Related]
34. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
Van-Gils J; Harambat J; Jubert C; Vidaud D; Llanas B; Perel Y; Lacombe D; Goizet C
Eur J Med Genet; 2014; 57(11-12):639-42. PubMed ID: 25234363
[TBL] [Abstract][Full Text] [Related]
35. Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.
Isakov O; Wallis D; Evans DG; Ben-Shachar S
EBioMedicine; 2018 Oct; 36():508-516. PubMed ID: 30274822
[TBL] [Abstract][Full Text] [Related]
36. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
Thomas L; Richards M; Mort M; Dunlop E; Cooper DN; Upadhyaya M
Hum Mutat; 2012 Dec; 33(12):1687-96. PubMed ID: 22807134
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
Hirata Y; Brems H; Suzuki M; Kanamori M; Okada M; Morita R; Llano-Rivas I; Ose T; Messiaen L; Legius E; Yoshimura A
J Biol Chem; 2016 Feb; 291(7):3124-34. PubMed ID: 26635368
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]