311 related articles for article (PubMed ID: 30014477)
1. 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]
2. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
Wimmer K; Yao S; Claes K; Kehrer-Sawatzki H; Tinschert S; De Raedt T; Legius E; Callens T; Beiglböck H; Maertens O; Messiaen L
Genes Chromosomes Cancer; 2006 Mar; 45(3):265-76. PubMed ID: 16283621
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Griffiths S; Thompson P; Frayling I; Upadhyaya M
Fam Cancer; 2007; 6(1):21-34. PubMed ID: 16944272
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
Esposito T; Piluso G; Saracino D; Uccello R; Schettino C; Dato C; Capaldo G; Giugliano T; Varriale B; Paolisso G; Di Iorio G; Melone MA
J Neurochem; 2015 Dec; 135(6):1123-8. PubMed ID: 26478990
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
De Luca A; Schirinzi A; Buccino A; Bottillo I; Sinibaldi L; Torrente I; Ciavarella A; Dottorini T; Porciello R; Giustini S; Calvieri S; Dallapiccola B
Hum Mutat; 2004 Jun; 23(6):629. PubMed ID: 15146469
[TBL] [Abstract][Full Text] [Related]
11. [Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].
Zhao X; Zhou Q; Cai L; Zhao Z; Zhang L; Wang P; Zhang G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):489-492. PubMed ID: 30098240
[TBL] [Abstract][Full Text] [Related]
12. Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.
Sharifi S; Kalaycı T; Palanduz Ş; Öztürk Ş; Cefle K
Balkan Med J; 2021 Nov; 38(6):365-373. PubMed ID: 34860164
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG; Bowers N; Burkitt-Wright E; Miles E; Garg S; Scott-Kitching V; Penman-Splitt M; Dobbie A; Howard E; Ealing J; Vassalo G; Wallace AJ; Newman W; ; Huson SM
EBioMedicine; 2016 May; 7():212-20. PubMed ID: 27322474
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.
Alesi V; Lepri FR; Dentici ML; Genovese S; Sallicandro E; Bejo K; Dallapiccola B; Capolino R; Novelli A; Digilio MC
Eur J Hum Genet; 2022 Nov; 30(11):1239-1243. PubMed ID: 35879407
[TBL] [Abstract][Full Text] [Related]
18. Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH; Hung TC; Lin YT; Cheng HW; Lin JL; Lin CH; Yu CC; Chen KT; Yeh TH; Chen YR
J Biomed Sci; 2018 Oct; 25(1):72. PubMed ID: 30290804
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R; Hoffmeyer S; Mischung C; Gille C; Ehlers C; Kücükceylan N; Abdel-Nour M; Gewies A; Peters H; Kaufmann D; Buske A; Tinschert S; Nürnberg P
Am J Hum Genet; 2000 Mar; 66(3):790-818. PubMed ID: 10712197
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
