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Items: 1 to 20 of 225

1.

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.

2.

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.

3.

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.

PMID:
17353900
4.

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.

5.

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.

6.

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H.

Am J Hum Genet. 2007 Dec;81(6):1201-20. Epub 2007 Oct 31.

7.

Frequent loss of heterozygosity targeting the inactive X chromosome in melanoma.

Indsto JO, Nassif NT, Kefford RF, Mann GJ.

Clin Cancer Res. 2003 Dec 15;9(17):6476-82.

8.

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.

PMID:
16015648
9.

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.

PMID:
16774939
10.

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.

PMID:
8993980
11.

Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera.

Kralovics R, Guan Y, Prchal JT.

Exp Hematol. 2002 Mar;30(3):229-36.

PMID:
11882360
12.

Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.

Boudry-Labis E, Roche-Lestienne C, Nibourel O, Boissel N, Terre C, Perot C, Eclache V, Gachard N, Tigaud I, Plessis G, Cuccuini W, Geffroy S, Villenet C, Figeac M, Leprêtre F, Renneville A, Cheok M, Soulier J, Dombret H, Preudhomme C; French ALFA group.

Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5.

13.

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
14.

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.

PMID:
20506354
15.
16.

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids.

Purandare SM, Huntsman Breidenbach H, Li Y, Zhu XL, Sawada S, Neil SM, Brothman A, White R, Cawthon R, Viskochil D.

Genomics. 1995 Dec 10;30(3):476-85.

PMID:
8825634
17.

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.

18.

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
19.

Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

Balgobind BV, Van Vlierberghe P, van den Ouweland AM, Beverloo HB, Terlouw-Kromosoeto JN, van Wering ER, Reinhardt D, Horstmann M, Kaspers GJ, Pieters R, Zwaan CM, Van den Heuvel-Eibrink MM, Meijerink JP.

Blood. 2008 Apr 15;111(8):4322-8. doi: 10.1182/blood-2007-06-095075. Epub 2008 Jan 2.

20.

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.

Reboul MP, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A.

Clin Genet. 2006 Sep;70(3):207-13.

PMID:
16922723

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