128 related articles for article (PubMed ID: 37562365)
1. Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation.
Lu YT; Rejiepu B; Zhang D; Cai DC; Yang KQ; Tian T; Zhou XL; Fan P
Kidney Blood Press Res; 2023; 48(1):568-577. PubMed ID: 37562365
[TBL] [Abstract][Full Text] [Related]
2. Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.
Fu Y; Zhang JQ; Jiang CL; Wang HY
J Dermatol; 2018 Aug; 45(8):986-988. PubMed ID: 29952103
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours.
Prasad BCM; Chandra VVR; Sudarsan A; Kumar PS; Sarma PVGK
J Clin Neurosci; 2018 Jul; 53():62-68. PubMed ID: 29680440
[TBL] [Abstract][Full Text] [Related]
5. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
Jang MA; Kim YE; Kim SK; Lee MK; Kim JW; Ki CS
J Hum Genet; 2016 Aug; 61(8):705-9. PubMed ID: 27074763
[TBL] [Abstract][Full Text] [Related]
6. Alternative splicing of the neurofibromatosis type I pre-mRNA.
Barron VA; Lou H
Biosci Rep; 2012 Apr; 32(2):131-8. PubMed ID: 22115364
[TBL] [Abstract][Full Text] [Related]
7. [Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I].
Zhang Q; Liang Y; Gao A; Duan C; Ding Y; Pan Y; Qiao L; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb; 36(2):132-135. PubMed ID: 30703230
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.
Trevisson E; Forzan M; Salviati L; Clementi M
Clin Genet; 2014 Apr; 85(4):386-9. PubMed ID: 23621909
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.
Fang LJ; Simard MJ; Vidaud D; Assouline B; Lemieux B; Vidaud M; Chabot B; Thirion JP
J Mol Biol; 2001 Apr; 307(5):1261-70. PubMed ID: 11292340
[TBL] [Abstract][Full Text] [Related]
11. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
Pros E; Fernández-Rodríguez J; Canet B; Benito L; Sánchez A; Benavides A; Ramos FJ; López-Ariztegui MA; Capellá G; Blanco I; Serra E; Lázaro C
Hum Mutat; 2009 Mar; 30(3):454-62. PubMed ID: 19241459
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.
Cai SP; Fan N; Chen J; Xia ZL; Wang Y; Zhou XM; Yin Y; Wen TL; Xia QJ; Liu XY; Wang HY
Genet Mol Res; 2014 Jul; 13(3):5395-404. PubMed ID: 25078596
[TBL] [Abstract][Full Text] [Related]
14. Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.
Hernández-Imaz E; Campos B; Rodríguez-Álvarez FJ; Abad O; Melean G; Gardenyes J; Martín Y; Hernández-Chico C
Clin Genet; 2013 May; 83(5):462-6. PubMed ID: 22925204
[TBL] [Abstract][Full Text] [Related]
15. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Abramowicz A; Gos M
Dev Period Med; 2014; 18(3):297-306. PubMed ID: 25182393
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1].
Peng C; Ma S; Tang X; Yang J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):480-483. PubMed ID: 30098238
[TBL] [Abstract][Full Text] [Related]
17. Rare NF1 Gene Mutation in Chinese Patient with Neurofibromatosis Type 1 and Anaplastic Astrocytoma.
Zhou S; Zhu Y; Xu J; Tao R; Yuan S
World Neurosurg; 2020 Feb; 134():434-437. PubMed ID: 31678437
[TBL] [Abstract][Full Text] [Related]
18. NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.
Colapietro P; Gervasini C; Natacci F; Rossi L; Riva P; Larizza L
Hum Genet; 2003 Nov; 113(6):551-4. PubMed ID: 13680360
[TBL] [Abstract][Full Text] [Related]
19. Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1.
Yang L; Fu J; Cheng J; Zhou B; Liu X; Anuchapreeda S; Fu J
Mol Biol Rep; 2023 Feb; 50(2):1117-1123. PubMed ID: 36401065
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]