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Items: 1 to 20 of 383

1.

Molecular genetics of neurofibromatosis type 1 (NF1).

Shen MH, Harper PS, Upadhyaya M.

J Med Genet. 1996 Jan;33(1):2-17. Review.

2.

[Genetics of type 1 neurofibromatosis].

Garavelli L, Donadio A, Sigorini M, Grassi L, Banchini G.

Acta Biomed Ateneo Parmense. 2000;71(3-4):89-95. Italian.

PMID:
11424621
3.

Neurofibromatosis type 1: pathology, clinical features and molecular genetics.

von Deimling A, Krone W, Menon AG.

Brain Pathol. 1995 Apr;5(2):153-62. Review.

PMID:
7670656
4.

Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers.

Oğuzkan S, Cinbiş M, Ayter S, Anlar B, Aysun S.

Turk J Pediatr. 2003 Jul-Sep;45(3):192-7.

PMID:
14696795
5.

[From gene to disease; neurofibromatosis type 1].

de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF.

Ned Tijdschr Geneeskd. 2001 Sep 8;145(36):1736-8. Review. Dutch.

PMID:
11572174
7.

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
8.

[Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].

Sabol Z, Kipke-Sabol L.

Lijec Vjesn. 2005 Nov-Dec;127(11-12):303-11. Review. Croatian.

PMID:
16583938
9.
10.
11.

Neurofibromatosis type 1: piecing the puzzle together.

Feldkamp MM, Gutmann DH, Guha A.

Can J Neurol Sci. 1998 Aug;25(3):181-91. Review.

PMID:
9706718
12.

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.

13.

The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family.

Yang Q, Huang C, Yang X, Feng Y, Wang Q, Liu M.

J Genet Genomics. 2008 Feb;35(2):73-6. doi: 10.1016/S1673-8527(08)60011-9.

PMID:
18407053
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.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, Quattrone A.

Childs Nerv Syst. 2011 Apr;27(4):635-8. doi: 10.1007/s00381-010-1282-z. Epub 2010 Oct 7.

PMID:
20927530
16.

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN.

Hum Mutat. 2004 Feb;23(2):134-46.

PMID:
14722917
17.

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN.

J Med Genet. 2009 Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243. Epub 2009 Apr 14.

PMID:
19366998
18.

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.

19.

An EcoRI RFLP in the 5' region of the human NF1 gene.

Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ.

Hum Genet. 1993 Dec;92(6):631.

20.

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

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