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Items: 1 to 20 of 149

1.

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

Heim RA, Kam-Morgan LN, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC.

Hum Mol Genet. 1995 Jun;4(6):975-81.

PMID:
7655472
3.

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P.

Am J Hum Genet. 2000 Mar;66(3):790-818.

4.

Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

Kaufmann D, Müller R, Bartelt B, Wolf M, Kunzi-Rapp K, Hanemann CO, Fahsold R, Hein C, Vogel W, Assum G.

Am J Hum Genet. 2001 Dec;69(6):1395-400. Epub 2001 Oct 18.

5.

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, La Rosa C, Garrè C, Coviello DA, Ajmar F, Dallapiccola B, Bonioli E.

Hum Mutat. 2002 Jul;20(1):74-5.

PMID:
12112660
6.

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD.

Hum Mutat. 2000;15(6):541-55.

PMID:
10862084
7.

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B.

Hum Mutat. 2004 Jun;23(6):629.

PMID:
15146469
8.

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X.

Am J Hum Genet. 1998 Apr;62(4):834-41.

9.

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. doi: 10.1002/ajmg.a.32837.

PMID:
19449407
10.

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN.

Hum Genet. 1997 Jan;99(1):88-92.

PMID:
9003501
12.

Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan.

Hatta N, Horiuchi T, Fujita S.

Biochem Biophys Res Commun. 1994 Feb 28;199(1):207-12.

PMID:
8123014
13.

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR.

Hum Mutat. 1997;9(6):548-54.

PMID:
9195229
14.

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Origone P, Bellini C, Sambarino D, Banelli B, Morcaldi G, La Rosa C, Stanzial F, Castellan C, Coviello DA, Garrè C, Bonioli E.

Hum Mutat. 2003 Aug;22(2):179-80. Erratum in: Hum Mutat. 2003 Oct;22(4):341.

PMID:
12872266
15.

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.

PMID:
8081387
16.

NF1 gene analysis based on DHPLC.

De Luca A, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, Divona L, Calvieri S, Mingarelli R, Dallapiccola B.

Hum Mutat. 2003 Feb;21(2):171-2.

PMID:
12552569
18.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
19.

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;2(6):725-30.

PMID:
8353492
20.

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

Serra E, Ars E, Ravella A, Sánchez A, Puig S, Rosenbaum T, Estivill X, Lázaro C.

Hum Genet. 2001 May;108(5):416-29.

PMID:
11409870

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