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Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies.

Stephens K, Weaver M, Leppig KA, Maruyama K, Emanuel PD, Le Beau MM, Shannon KM.

Blood. 2006 Sep 1;108(5):1684-9. Epub 2006 May 11.


Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.

Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, Schlegelberger B, Downing JR, Niemeyer CM.

Oncogene. 2007 Aug 23;26(39):5816-21. Epub 2007 Mar 12.


Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.

Steinemann D, Arning L, Praulich I, Stuhrmann M, Hasle H, Stary J, Schlegelberger B, Niemeyer CM, Flotho C.

Haematologica. 2010 Feb;95(2):320-3. doi: 10.3324/haematol.2009.010355. Epub 2009 Dec 16.


Loss of heterozygosity associated with uniparental disomy in breast carcinoma.

Murthy SK, DiFrancesco LM, Ogilvie RT, Demetrick DJ.

Mod Pathol. 2002 Dec;15(12):1241-50.


Frequent occurrence of uniparental disomy in colorectal cancer.

Andersen CL, Wiuf C, Kruhøffer M, Korsgaard M, Laurberg S, Ørntoft TF.

Carcinogenesis. 2007 Jan;28(1):38-48. Epub 2006 Jun 13.


High-resolution deletion mapping of chromosome arm 17p in childhood primitive neuroectodermal tumors reveals a common chromosomal disruption within the Smith-Magenis region, an unstable region in chromosome band 17p11.2.

Scheurlen WG, Seranski P, Mincheva A, Kühl J, Sörensen N, Krauss J, Lichter P, Poustka A, Wilgenbus KK.

Genes Chromosomes Cancer. 1997 Jan;18(1):50-8.


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.


Frequent loss of heterozygosity without loss of genetic material in acute myeloid leukemia with a normal karyotype.

Gorletta TA, Gasparini P, D'Elios MM, Trubia M, Pelicci PG, Di Fiore PP.

Genes Chromosomes Cancer. 2005 Nov;44(3):334-7.


Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.

Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H.

Am J Hum Genet. 2001 Sep;69(3):516-27. Epub 2001 Jul 20.


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.


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.


NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K.

Hum Mol Genet. 2000 Jan 1;9(1):35-46.


Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas.

De Luca A, Bernardini L, Ceccarini C, Sinibaldi L, Novelli A, Giustini S, Daniele I, Calvieri S, Mingarelli R.

Cancer Genet Cytogenet. 2004 Apr 15;150(2):168-72.


A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.

Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254.


Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Garcia-Linares C, Fernández-Rodríguez J, Terribas E, Mercadé J, Pros E, Benito L, Benavente Y, Capellà G, Ravella A, Blanco I, Kehrer-Sawatzki H, Lázaro C, Serra E.

Hum Mutat. 2011 Jan;32(1):78-90. doi: 10.1002/humu.21387.


Hemizygous deletions of chromosome band 16q24 in Wilms tumor: detection by fluorescence in situ hybridization.

Shearer PD, Valentine MB, Grundy P, DeCou JM, Banavali SD, Komuro H, Green DM, Beckwith JB, Look AT.

Cancer Genet Cytogenet. 1999 Dec;115(2):100-5.


Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene.

Fang LJ, Vidaud D, Vidaud M, Thirion JP.

Hum Mutat. 2001 Dec;18(6):549-50.

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