255 related articles for article (PubMed ID: 31776437)
1. 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]
2. 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]
3. 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]
4. The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
Jeong SY; Park SJ; Kim HJ
J Korean Med Sci; 2006 Feb; 21(1):107-12. PubMed ID: 16479075
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.
Tsipi M; Poulou M; Fylaktou I; Kosma K; Tsoutsou E; Pons MR; Kokkinou E; Kitsiou-Tzeli S; Fryssira H; Tzetis M
J Neurol Sci; 2018 Dec; 395():95-105. PubMed ID: 30308447
[TBL] [Abstract][Full Text] [Related]
8. Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Güneş N; Yeşil G; Geyik F; Kasap B; Celkan T; Kebudi R; Tüysüz B
Ann Hum Genet; 2021 Sep; 85(5):155-165. PubMed ID: 33877690
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
N Abdel-Aziz N; Y El-Kamah G; A Khairat R; R Mohamed H; Z Gad Y; El-Ghor AM; Amr KS
Mol Genet Genomic Med; 2021 Dec; 9(12):e1631. PubMed ID: 34080803
[TBL] [Abstract][Full Text] [Related]
12. Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.
Zhu L; Zhang Y; Tong H; Shao M; Gu Y; Du X; Wang P; Shi L; Zhang L; Bi M; Wang X; Zhang G
Medicine (Baltimore); 2016 Mar; 95(10):e3043. PubMed ID: 26962827
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
15. Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C; Lezana Rosales JM; López Montiel J; Andrés Garrido LD; Sánchez Linares C; Carmona Tamajón S; Torres Fernández C; Sánchez González P; Franco Freire S; Benito López C; López Siles J
Ann Hum Genet; 2018 Nov; 82(6):425-436. PubMed ID: 30014477
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
