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Items: 1 to 20 of 249

1.

Genomic organization of the neurofibromatosis 1 gene (NF1).

Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D.

Genomics. 1995 Jan 1;25(1):9-18.

PMID:
7774960
2.

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene.

Cawthon RM, Andersen LB, Buchberg AM, Xu GF, O'Connell P, Viskochil D, Weiss RB, Wallace MR, Marchuk DA, Culver M, et al.

Genomics. 1991 Mar;9(3):446-60.

3.

Sequencing and analysis of genomic fragments from the NF1 locus.

Martin-Gallardo A, Marchuk DA, Gocayne J, Kerlavage AR, McCombie WR, Venter JC, Collins FS, Wallace MR.

DNA Seq. 1992;3(4):237-43.

PMID:
1338369
4.

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, et al.

Cell. 1990 Jul 13;62(1):193-201. Erratum in: Cell 1990 Aug 10;62(3):following 608.

PMID:
2114220
5.

A search for evidence of somatic mutations in the NF1 gene.

John AM, Ruggieri M, Ferner R, Upadhyaya M.

J Med Genet. 2000 Jan;37(1):44-9.

6.

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids.

Purandare SM, Huntsman Breidenbach H, Li Y, Zhu XL, Sawada S, Neil SM, Brothman A, White R, Cawthon R, Viskochil D.

Genomics. 1995 Dec 10;30(3):476-85.

PMID:
8825634
7.

Genomic organization, 5'-flanking region, and chromosomal localization of the human RGS3 gene.

Chatterjee TK, Eapen A, Kanis AB, Fisher RA.

Genomics. 1997 Oct 15;45(2):429-33.

PMID:
9344672
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;2(11):1861-4.

PMID:
7904209
9.

Genomic organization of the human excitatory amino acid transporter gene GLT-1.

Meyer T, Ludolph AC, Morkel M, Hagemeier C, Speer A.

Neuroreport. 1997 Feb 10;8(3):775-7.

PMID:
9106765
12.

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC.

Genomics. 1991 May;10(1):214-28.

PMID:
1710598
13.

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, et al.

Cell. 1990 Jul 13;62(1):187-92.

PMID:
1694727
14.

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.

Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS.

Genomics. 1991 Dec;11(4):931-40.

15.

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

Rodenhiser DI, Coulter-Mackie MB, Singh SM.

Hum Mol Genet. 1993 Apr;2(4):439-44.

PMID:
8504305
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;1(9):735-40.

PMID:
1302608
17.

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

Estivill X, Lázaro C, Casals T, Ravella A.

Hum Genet. 1991 Dec;88(2):185-8.

PMID:
1757093
18.

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

Hoffmeyer S, Nürnberg P, Ritter H, Fahsold R, Leistner W, Kaufmann D, Krone W.

Am J Hum Genet. 1998 Feb;62(2):269-77.

19.

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.

Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H.

Am J Hum Genet. 2001 Sep;69(3):516-27. Epub 2001 Jul 20.

20.

Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes.

Kehrer-Sawatzki H, Maier C, Moschgath E, Elgar G, Krone W.

Gene. 1998 Nov 5;222(1):145-53.

PMID:
9813292

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