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Items: 1 to 20 of 110

1.

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.

Thomas L, Kluwe L, Chuzhanova N, Mautner V, Upadhyaya M.

Neurogenetics. 2010 Oct;11(4):391-400. doi: 10.1007/s10048-010-0240-y. Epub 2010 Apr 1.

PMID:
20358387
2.

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
3.

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Thomas L, Spurlock G, Eudall C, Thomas NS, Mort M, Hamby SE, Chuzhanova N, Brems H, Legius E, Cooper DN, Upadhyaya M.

Eur J Hum Genet. 2012 Apr;20(4):411-9. doi: 10.1038/ejhg.2011.207. Epub 2011 Nov 23.

4.

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich RE, Kluwe L, Mautner V.

Hum Mutat. 2008 Aug;29(8):E103-11. doi: 10.1002/humu.20793.

PMID:
18484666
5.

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1.

Rasmussen SA, Overman J, Thomson SA, Colman SD, Abernathy CR, Trimpert RE, Moose R, Virdi G, Roux K, Bauer M, Rojiani AM, Maria BL, Muir D, Wallace MR.

Genes Chromosomes Cancer. 2000 Aug;28(4):425-31.

PMID:
10862051
6.

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Upadhyaya M, Spurlock G, Kluwe L, Chuzhanova N, Bennett E, Thomas N, Guha A, Mautner V.

Neurogenetics. 2009 Jul;10(3):251-63. doi: 10.1007/s10048-009-0178-0. Epub 2009 Feb 17.

PMID:
19221814
7.

Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene.

Däschner K, Assum G, Eisenbarth I, Krone W, Hoffmeyer S, Wortmann S, Heymer B, Kehrer-Sawatzki H.

Biochem Biophys Res Commun. 1997 May 19;234(2):346-50.

PMID:
9177273
8.

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

Thomas L, Mautner VF, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Sep 4;6:18. doi: 10.1186/1479-7364-6-18.

9.

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

Steinmann K, Kluwe L, Friedrich RE, Mautner VF, Cooper DN, Kehrer-Sawatzki H.

J Invest Dermatol. 2009 Mar;129(3):615-21. doi: 10.1038/jid.2008.274. Epub 2008 Sep 18.

10.

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
11.

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E.

Genes Chromosomes Cancer. 2006 Oct;45(10):893-904.

PMID:
16830335
12.

Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors.

Birindelli S, Perrone F, Oggionni M, Lavarino C, Pasini B, Vergani B, Ranzani GN, Pierotti MA, Pilotti S.

Lab Invest. 2001 Jun;81(6):833-44.

PMID:
11406645
13.

Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings.

Spurlock G, Knight SJ, Thomas N, Kiehl TR, Guha A, Upadhyaya M.

J Cancer Res Clin Oncol. 2010 Dec;136(12):1869-80. doi: 10.1007/s00432-010-0846-3. Epub 2010 Mar 15.

PMID:
20229272
14.

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.

Beert E, Brems H, Daniëls B, De Wever I, Van Calenbergh F, Schoenaers J, Debiec-Rychter M, Gevaert O, De Raedt T, Van Den Bruel A, de Ravel T, Cichowski K, Kluwe L, Mautner V, Sciot R, Legius E.

Genes Chromosomes Cancer. 2011 Dec;50(12):1021-32. doi: 10.1002/gcc.20921. Epub 2011 Aug 24.

PMID:
21987445
15.

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V.

Hum Mutat. 2008 Jan;29(1):74-82.

PMID:
17960768
16.

Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas.

Kluwe L, Friedrich RE, Mautner VF.

Cancer Genet Cytogenet. 1999 Aug;113(1):65-9.

PMID:
10459349
17.
18.

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens O, Brems H, Vandesompele J, De Raedt T, Heyns I, Rosenbaum T, De Schepper S, De Paepe A, Mortier G, Janssens S, Speleman F, Legius E, Messiaen L.

Hum Mutat. 2006 Oct;27(10):1030-40.

PMID:
16941471
19.

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.

20.

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, Lenard HG, Lázaro C.

Hum Mol Genet. 2000 Dec 12;9(20):3055-64.

PMID:
11115850

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