326 related articles for article (PubMed ID: 29925695)
1. A porcine model of neurofibromatosis type 1 that mimics the human disease.
White KA; Swier VJ; Cain JT; Kohlmeyer JL; Meyerholz DK; Tanas MR; Uthoff J; Hammond E; Li H; Rohret FA; Goeken A; Chan CH; Leidinger MR; Umesalma S; Wallace MR; Dodd RD; Panzer K; Tang AH; Darbro BW; Moutal A; Cai S; Li W; Bellampalli SS; Khanna R; Rogers CS; Sieren JC; Quelle DE; Weimer JM
JCI Insight; 2018 Jun; 3(12):. PubMed ID: 29925695
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H; Legius E
Keio J Med; 2013; 62(4):107-12. PubMed ID: 24334617
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.
Zhang T; Jia C; Dong Z; Li C; Lu W
Mol Genet Genomic Med; 2021 May; 9(5):e1643. PubMed ID: 33764694
[TBL] [Abstract][Full Text] [Related]
5. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
Tong HX; Li M; Zhang Y; Zhu J; Lu WQ
Genet Mol Res; 2012 Aug; 11(3):2972-8. PubMed ID: 22869071
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
Peltonen S; Kallionpää RA; Peltonen J
Exp Dermatol; 2017 Jul; 26(7):645-648. PubMed ID: 27622733
[TBL] [Abstract][Full Text] [Related]
8. Malignant Peripheral Nerve Sheath Tumor in an Army Reservist With Neurofibromatosis Type 1.
Kou CJ; Rendo M; Broadwater DR; Beeler B
Mil Med; 2021 May; 186(5-6):e626-e631. PubMed ID: 33180928
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi.
Hida T; Idogawa M; Okura M; Sugita S; Sugawara T; Sasaki Y; Tokino T; Yamashita T; Uhara H
J Dermatol; 2020 Jun; 47(6):658-662. PubMed ID: 32246533
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
Klose A; Ahmadian MR; Schuelke M; Scheffzek K; Hoffmeyer S; Gewies A; Schmitz F; Kaufmann D; Peters H; Wittinghofer A; Nürnberg P
Hum Mol Genet; 1998 Aug; 7(8):1261-8. PubMed ID: 9668168
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Neurofibromin-deficient Schwann cells have increased lysophosphatidic acid dependent survival and migration-implications for increased neurofibroma formation during pregnancy.
Nebesio TD; Ming W; Chen S; Clegg T; Yuan J; Yang Y; Estwick SA; Li Y; Li X; Hingtgen CM; Yang FC
Glia; 2007 Apr; 55(5):527-36. PubMed ID: 17236191
[TBL] [Abstract][Full Text] [Related]
17. Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin.
Führer S; Tollinger M; Dunzendorfer-Matt T
J Mol Biol; 2019 Sep; 431(19):3889-3899. PubMed ID: 31401120
[TBL] [Abstract][Full Text] [Related]
18. Diagnosis and management of neurofibromatosis type 1.
Korf BR
Curr Neurol Neurosci Rep; 2001 Mar; 1(2):162-7. PubMed ID: 11898512
[TBL] [Abstract][Full Text] [Related]
19. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR; Brems H; Gomes AG; Ruppert SL; Callens T; Williams J; Claes K; Bober MB; Hachen R; Kaban LB; Li H; Lin A; McDonald M; Melancon S; Ortenberg J; Radtke HB; Samson I; Saul RA; Shen J; Siqveland E; Toler TL; van Maarle M; Wallace M; Williams M; Legius E; Messiaen L
Genet Med; 2014 Jun; 16(6):448-59. PubMed ID: 24232412
[TBL] [Abstract][Full Text] [Related]
20. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
Muram-Zborovski TM; Vaughn CP; Viskochil DH; Hanson H; Mao R; Stevenson DA
Am J Med Genet A; 2010 Aug; 152A(8):1973-8. PubMed ID: 20602485
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
