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Items: 1 to 20 of 125

1.

[Identification of a mosaic mutation of NF1 gene in a sporadic case of neurofibromatosis type 1].

Zhou CY, Li J, Guo XY, Liao J, Wang ZH, Lan FH.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Oct;29(5):529-32. doi: 10.3760/cma.j.issn.1003-9406.2012.05.006. Chinese.

PMID:
23042387
2.

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).

Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H.

Hum Mutat. 2011 Feb;32(2):213-9. doi: 10.1002/humu.21418.

PMID:
21280148
3.

Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients.

Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, Shinomura Y, Matsuzawa Y.

J Pathol. 2004 Jan;202(1):80-5.

PMID:
14694524
4.

Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X.

N Engl J Med. 1994 Nov 24;331(21):1403-7.

5.

Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.

Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M.

J Invest Dermatol. 2005 Sep;125(3):463-6.

6.

Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient.

Perren A, Wiesli P, Schmid S, Montani M, Schmitt A, Schmid C, Moch H, Komminoth P.

Am J Surg Pathol. 2006 Aug;30(8):1047-51.

PMID:
16861979
7.

Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan.

Liu MT, Su JS, Huang CY, Tsai SF.

J Hum Genet. 2003;48(10):545-9. Epub 2003 Sep 26.

PMID:
14513407
8.

Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).

Buske A, Gewies A, Lehmann R, Rüther K, Algermissen B, Nürnberg P, Tinschert S.

Am J Med Genet. 1999 Oct 8;86(4):328-30.

PMID:
10494088
9.
10.

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
11.

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF.

Am J Hum Genet. 2004 Sep;75(3):410-23. Epub 2004 Jul 15.

12.

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
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.

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
15.
16.

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.

17.

Mutations in von Recklinghausen neurofibromatosis: an hypothesis.

Zlotogora J.

Am J Med Genet. 1993 Apr 15;46(2):182-4. Review.

PMID:
8484407
18.

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L.

Am J Hum Genet. 2007 Aug;81(2):243-51. Epub 2007 Jun 20.

19.

Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.

Trevisson E, Forzan M, Salviati L, Clementi M.

Clin Genet. 2014 Apr;85(4):386-9. doi: 10.1111/cge.12177. Epub 2013 May 27.

PMID:
23621909
20.

p53 mutation as the second event in juvenile chronic myelogenous leukemia in a patient with neurofibromatosis type 1.

Luria D, Avigad S, Cohen IJ, Stark B, Weitz R, Zaizov R.

Cancer. 1997 Nov 15;80(10):2013-8.

PMID:
9366306

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