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29. Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. Abernathy CR; Colman SD; Kousseff BG; Wallace MR Hum Mutat; 1994; 3(4):347-52. PubMed ID: 8081387 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient. Perren A; Wiesli P; Schmid S; Montani M; Schmitt A; Schmid C; Moch H; Komminoth P Am J Surg Pathol; 2006 Aug; 30(8):1047-51. PubMed ID: 16861979 [TBL] [Abstract][Full Text] [Related]
33. Identification and characterization of the neurofibromatosis type 1 protein product. DeClue JE; Cohen BD; Lowy DR Proc Natl Acad Sci U S A; 1991 Nov; 88(22):9914-8. PubMed ID: 1946460 [TBL] [Abstract][Full Text] [Related]
34. Combinatorial sequencing-by-hybridization: analysis of the NF1 gene. Schirinzi A; Drmanac S; Dallapiccola B; Huang S; Scott K; De Luca A; Swanson D; Drmanac R; Surrey S; Fortina P Genet Test; 2006; 10(1):8-17. PubMed ID: 16544997 [TBL] [Abstract][Full Text] [Related]
35. Screening for truncated NF1 proteins. Heim RA; Silverman LM; Farber RA; Kam-Morgan LN; Luce MC Nat Genet; 1994 Nov; 8(3):218-9. PubMed ID: 7874161 [No Abstract] [Full Text] [Related]
36. Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1. Faden DL; Asthana S; Tihan T; DeRisi J; Kliot M PLoS One; 2017; 12(1):e0170348. PubMed ID: 28099461 [TBL] [Abstract][Full Text] [Related]
37. 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]
38. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing. Pros E; Larriba S; López E; Ravella A; Gili ML; Kruyer H; Valls J; Serra E; Lázaro C Hum Mutat; 2006 Nov; 27(11):1104-14. PubMed ID: 16937374 [TBL] [Abstract][Full Text] [Related]
39. New evidence for a mutation hotspot in exon 37 of the NF1 gene. Böddrich A; Robinson PN; Schülke M; Buske A; Tinschert S; Nürnberg P Hum Mutat; 1997; 9(4):374-7. PubMed ID: 9101303 [No Abstract] [Full Text] [Related]
40. Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent Mediterranean beta-thalassemic mutations. Fernandez E; Bienvenu T; Desclaux Arramond F; Beldjord K; Kaplan JC; Beldjord C PCR Methods Appl; 1993 Oct; 3(2):122-4. PubMed ID: 8268787 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]