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Journal Abstract Search
65 related items for PubMed ID: 8012366
1. An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene. Bleyl S, Ainsworth P, Nelson L, Viskochil D, Ward K. Hum Mol Genet; 1994 Mar; 3(3):517-8. PubMed ID: 8012366 [No Abstract] [Full Text] [Related]
2. Two single base polymorphisms in introns 41 and 16 of the NF1 gene. Shen MH, Upadhyaya M. Am J Med Genet; 1995 Apr 24; 60(2):147-9. PubMed ID: 7485249 [Abstract] [Full Text] [Related]
3. Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene. Lázaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes JJ, Estivill X. Hum Mol Genet; 1993 Jun 24; 2(6):725-30. PubMed ID: 8353492 [Abstract] [Full Text] [Related]
4. A novel RsaI polymorphism within intron 39 of the neurofibromatosis type 1 (NF1) gene. Rodenhiser D, Hovland K. Hum Genet; 1995 Feb 24; 95(2):241-2. PubMed ID: 7860077 [No Abstract] [Full Text] [Related]
5. Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization. Raponi M, Upadhyaya M, Baralle D. Hum Mutat; 2006 Mar 24; 27(3):294-5. PubMed ID: 16470740 [Abstract] [Full Text] [Related]
6. An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1). Xu GF, Nelson L, O'Connell P, White R. Nucleic Acids Res; 1991 Jul 11; 19(13):3764. PubMed ID: 1906608 [No Abstract] [Full Text] [Related]
7. A de novo Alu insertion results in neurofibromatosis type 1. Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS. Nature; 1991 Oct 31; 353(6347):864-6. PubMed ID: 1719426 [Abstract] [Full Text] [Related]
8. Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. Shen MH, Harper PS, Upadhyaya M. Hum Mol Genet; 1993 Nov 31; 2(11):1861-4. PubMed ID: 7904209 [Abstract] [Full Text] [Related]
9. Comparison of insertion rate of L1 retroposon into intron 30 of the neurofibromatosis type 1 gene in seven Asian and Pacific populations. Shirakawa T, Nishiyama K, Poh-San L, Ishida T, Matsuo M. Jpn J Hum Genet; 1996 Mar 31; 41(1):209-14. PubMed ID: 8914637 [Abstract] [Full Text] [Related]
10. Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene. Ainsworth P, Rodenhiser D, Stuart A, Jung J. Hum Mol Genet; 1994 Jul 31; 3(7):1179-81. PubMed ID: 7981692 [No Abstract] [Full Text] [Related]
11. Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases. Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M. Mol Cell Probes; 1993 Oct 31; 7(5):415-8. PubMed ID: 8264676 [Abstract] [Full Text] [Related]
12. In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons. Kaufmann D, Kenner O, Nurnberg P, Vogel W, Bartelt B. Eur J Hum Genet; 2004 Feb 31; 12(2):139-49. PubMed ID: 14560314 [Abstract] [Full Text] [Related]
13. A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene. Purandare SM, Davidson HR, Lanyon WG, Connor JM. Hum Mutat; 1994 Feb 31; 3(1):76-8. PubMed ID: 8118468 [No Abstract] [Full Text] [Related]
14. A new allele, HLA-G*01010106, with changes in intron 2. Román A, Cervera I, Herraiz MA, Vidart J, Martinez-Laso J. Tissue Antigens; 2009 Sep 31; 74(3):270-1. PubMed ID: 19624483 [Abstract] [Full Text] [Related]
15. An Alu polymorphism intragenic to the TP53 gene. Futreal PA, Barrett JC, Wiseman RW. Nucleic Acids Res; 1991 Dec 25; 19(24):6977. PubMed ID: 1762941 [No Abstract] [Full Text] [Related]
16. Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM, Harper PS. Hum Mol Genet; 1992 Dec 25; 1(9):735-40. PubMed ID: 1302608 [Abstract] [Full Text] [Related]
17. Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from café au laitmacules of NF1 patients. Eisenbarth I, Assum G, Kaufmann D, Krone W. Biochem Biophys Res Commun; 1997 Aug 08; 237(1):138-41. PubMed ID: 9266845 [Abstract] [Full Text] [Related]
18. Structure of Brassica napus phosphoenolpyruvate carboxylase genes: missing introns causing polymorphisms among gene family members. Yanai Y, Okumura S, Shimada H. Biosci Biotechnol Biochem; 1994 May 08; 58(5):950-3. PubMed ID: 7764981 [Abstract] [Full Text] [Related]
19. Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Nishi T, Lee PS, Oka K, Levin VA, Tanase S, Morino Y, Saya H. Oncogene; 1991 Sep 08; 6(9):1555-9. PubMed ID: 1923522 [Abstract] [Full Text] [Related]
20. Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci. Cummings LM, Trent JM, Marchuk DA. Cytogenet Cell Genet; 1996 Sep 08; 73(4):334-40. PubMed ID: 8751390 [Abstract] [Full Text] [Related] Page: [Next] [New Search]