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Results: 1 to 20 of 111

1.

Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.

Kluwe L, Nguyen R, Vogt J, Bengesser K, Mussotter T, Friedrich RE, Jett K, Kehrer-Sawatzki H, Mautner VF.

Genes Chromosomes Cancer. 2012 May;51(5):447-51. doi: 10.1002/gcc.21931. Epub 2012 Feb 1.

PMID:
22294457
[PubMed - indexed for MEDLINE]
2.

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF.

Hum Genet. 2005 May;116(6):466-75. Epub 2005 Mar 18.

PMID:
15776250
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
9643287
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Kayes LM, Burke W, Riccardi VM, Bennett R, Ehrlich P, Rubenstein A, Stephens K.

Am J Hum Genet. 1994 Mar;54(3):424-36.

PMID:
8116612
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
15257518
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Kehrer-Sawatzki H, Vogt J, Mußotter T, Kluwe L, Cooper DN, Mautner VF.

Neurogenetics. 2012 Aug;13(3):229-36. doi: 10.1007/s10048-012-0332-y. Epub 2012 May 13.

PMID:
22581253
[PubMed - indexed for MEDLINE]
9.

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1.

Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM.

Neuro Oncol. 2008 Aug;10(4):593-8. doi: 10.1215/15228517-2008-011. Epub 2008 Jun 17.

PMID:
18559970
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Cardiac characterization of 16 patients with large NF1 gene deletions.

Nguyen R, Mir TS, Kluwe L, Jett K, Kentsch M, Mueller G, Kehrer-Sawatzki H, Friedman JM, Mautner VF.

Clin Genet. 2013 Oct;84(4):344-9. doi: 10.1111/cge.12072. Epub 2012 Dec 28.

PMID:
23278345
[PubMed - indexed for MEDLINE]
11.

Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis.

Plotkin SR, Bredella MA, Cai W, Kassarjian A, Harris GJ, Esparza S, Merker VL, Munn LL, Muzikansky A, Askenazi M, Nguyen R, Wenzel R, Mautner VF.

PLoS One. 2012;7(4):e35711. doi: 10.1371/journal.pone.0035711. Epub 2012 Apr 27.

PMID:
22558206
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.

Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner VF.

Hum Mutat. 2004 Feb;23(2):111-6.

PMID:
14722914
[PubMed - indexed for MEDLINE]
13.

The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.

Leppig KA, Viskochil D, Neil S, Rubenstein A, Johnson VP, Zhu XL, Brothman AR, Stephens K.

Cytogenet Cell Genet. 1996;72(1):95-8.

PMID:
8565646
[PubMed - indexed for MEDLINE]
14.

Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.

Oguzkan S, Terzi YK, Güler E, Derbent M, Agras PI, Saatci U, Ayter S.

Cancer Genet Cytogenet. 2006 Jan 15;164(2):159-63.

PMID:
16434322
[PubMed - indexed for MEDLINE]
15.

Deletion of the entire NF1 gene causing distinct manifestations in a family.

Wu BL, Schneider GH, Korf BR.

Am J Med Genet. 1997 Mar 3;69(1):98-101.

PMID:
9066892
[PubMed - indexed for MEDLINE]
16.

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.

Vogt J, Nguyen R, Kluwe L, Schuhmann M, Roehl AC, Mußotter T, Cooper DN, Mautner VF, Kehrer-Sawatzki H.

J Med Case Rep. 2011 Dec 12;5:577. doi: 10.1186/1752-1947-5-577.

PMID:
22151963
[PubMed]
Free PMC Article
17.

Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.

Kluwe L, Friedrich RE, Peiper M, Friedman J, Mautner VF.

Hum Mutat. 2003 Nov;22(5):420.

PMID:
14517963
[PubMed - indexed for MEDLINE]
18.

A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.

Oktenli C, Saglam M, Demirbas S, Thompson P, Upadhyaya M, Consoli C, Ulucan H, Koz C, Durukan AH, Bozkurt A, Koc B, Kocar IH, Gul D.

Clin Dysmorphol. 2003 Jul;12(3):199-201.

PMID:
14564162
[PubMed - indexed for MEDLINE]
19.

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.

Lopez Correa C, Brems H, Lázaro C, Estivill X, Clementi M, Mason S, Rutkowski JL, Marynen P, Legius E.

Hum Mutat. 1999;14(5):387-93.

PMID:
10533064
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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