271 related articles for article (PubMed ID: 30308447)
1. 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]
2. 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]
3. Simultaneous Detection of
Bianchessi D; Ibba MC; Saletti V; Blasa S; Langella T; Paterra R; Cagnoli GA; Melloni G; Scuvera G; Natacci F; Cesaretti C; Finocchiaro G; Eoli M
Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32575496
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
Yao R; Yu T; Xu Y; Yu L; Wang J; Wang X; Wang J; Shen Y
Genes (Basel); 2019 Oct; 10(11):. PubMed ID: 31717729
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
Yao R; Wang L; Yu Y; Wang J; Shen Y
J Dermatol; 2016 May; 43(5):537-42. PubMed ID: 26458495
[TBL] [Abstract][Full Text] [Related]
10. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
Witkowski L; Dillon MW; Murphy E; S Lebo M; Mason-Suares H
Mol Genet Genomic Med; 2020 Apr; 8(4):e1180. PubMed ID: 32107864
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Identification of a Novel
Xu G; Li M; Niu Y; Huang X; Li Y; Tang G; Long S; Zhao H; Jiang H
Biomed Res Int; 2019; 2019():2721357. PubMed ID: 31886188
[TBL] [Abstract][Full Text] [Related]
15. NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Imbard A; Pasmant E; Sabbagh A; Luscan A; Soares M; Goussard P; Blanché H; Laurendeau I; Ferkal S; Vidaud M; Pinson S; Bellanne-Chantelot C; Vidaud D; Wolkenstein P; ; Parfait B
J Hum Genet; 2015 Apr; 60(4):221-4. PubMed ID: 25631097
[TBL] [Abstract][Full Text] [Related]
16. 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]
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. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Calì F; Chiavetta V; Ruggeri G; Piccione M; Selicorni A; Palazzo D; Bonsignore M; Cereda A; Elia M; Failla P; Figura MG; Fiumara A; Maitz S; Luana Mandarà GM; Mattina T; Ragalmuto A; Romano C; Ruggieri M; Salluzzo R; Saporoso A; Schepis C; Sorge G; Spanò M; Tortorella G; Romano V
Eur J Med Genet; 2017 Feb; 60(2):93-99. PubMed ID: 27838393
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
