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Items: 1 to 20 of 86

1.

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

Toliat MR, Erdogan F, Gewies A, Fahsold R, Buske A, Tinschert S, Nürnberg P.

Electrophoresis. 2000 Feb;21(3):541-4.

PMID:
10726756
2.

Germline mutations in NF1 patients with malignancies.

Wu R, López-Correa C, Rutkowski JL, Baumbach LL, Glover TW, Legius E.

Genes Chromosomes Cancer. 1999 Dec;26(4):376-80.

PMID:
10534774
3.

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR.

Hum Mutat. 1998;11(5):411.

PMID:
10336779
5.

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP.

Am J Hum Genet. 1999 May;64(5):1305-15. Review.

7.

Two independent mutations in a family with neurofibromatosis type 1 (NF1).

Klose A, Peters H, Hoffmeyer S, Buske A, Lüder A, Hess D, Lehmann R, Nürnberg P, Tinschert S.

Am J Med Genet. 1999 Mar 5;83(1):6-12.

PMID:
10076878
8.

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D.

Hum Mol Genet. 1999 Jan;8(1):69-79.

PMID:
9887333
9.

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis.

Gille C, Gille A, Booms P, Robinson PN, Nürnberg P.

Electrophoresis. 1998 Jun;19(8-9):1347-50.

PMID:
9694279
10.

Structural analysis of the GAP-related domain from neurofibromin and its implications.

Scheffzek K, Ahmadian MR, Wiesmüller L, Kabsch W, Stege P, Schmitz F, Wittinghofer A.

EMBO J. 1998 Aug 3;17(15):4313-27.

11.

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.

PMID:
9668168
12.

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR.

J Med Genet. 1998 Jun;35(6):468-71.

13.

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A.

Cell. 1998 May 1;93(3):467-76.

14.

Detection of APC mutations by a yeast-based protein truncation test (YPTT).

Suzuki T, Ishioka C, Kato S, Mitachi Y, Shimodaira H, Sakayori M, Shimada A, Asamura M, Kanamaru R.

Genes Chromosomes Cancer. 1998 Apr;21(4):290-7.

PMID:
9559340
15.

Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.

Klose A, Robinson N, Gewies A, Kluwe L, Kaufmann D, Buske A, Tinschert S, Peters H.

Hum Genet. 1998 Mar;102(3):367-71.

PMID:
9544853
16.

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.

17.

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

Messiaen L, Callens T, De Paepe A, Craen M, Mortier G.

Hum Genet. 1997 Nov;101(1):75-80.

PMID:
9385374
18.

Do NF1 gene deletions result in a characteristic phenotype?

Tonsgard JH, Yelavarthi KK, Cushner S, Short MP, Lindgren V.

Am J Med Genet. 1997 Nov 28;73(1):80-6.

PMID:
9375928
19.

A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.

Kehrer-Sawatzki H, Schwickardt T, Assum G, Rocchi M, Krone W.

Hum Genet. 1997 Oct;100(5-6):595-600.

PMID:
9341878
20.

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lázaro C.

Am J Hum Genet. 1997 Sep;61(3):512-9.

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