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Items: 1 to 20 of 529

1.

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.

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.

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.

Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H.

J Med Genet. 2003 Jul;40(7):520-5. No abstract available.

4.

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.

5.

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
6.

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region.

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

Am J Med Genet A. 2008 Mar 15;146A(6):691-9. doi: 10.1002/ajmg.a.32045.

PMID:
18265407
7.

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2010 Oct;31(10):1163-73. doi: 10.1002/humu.21340.

PMID:
20725927
8.

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.

9.

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.

Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K.

Am J Med Genet. 1997 Dec 12;73(2):197-204.

PMID:
9409873
10.

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

Lázaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X.

Am J Hum Genet. 1995 Nov;57(5):1044-9.

11.

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Roehl AC, Cooper DN, Kluwe L, Helbrich A, Wimmer K, Högel J, Mautner VF, Kehrer-Sawatzki H.

Hum Mutat. 2010 Mar;31(3):325-34. doi: 10.1002/humu.21191.

PMID:
20052761
12.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D; members of the NF France Network.

Hum Mutat. 2010 Jun;31(6):E1506-18. doi: 10.1002/humu.21271.

13.

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, Fu C, van den Ende J, Mautner VF, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Mutat. 2012 Nov;33(11):1599-609. doi: 10.1002/humu.22171. Epub 2012 Aug 20.

PMID:
22837079
14.

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2.

PMID:
24186807
15.

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

Gervasini C, Venturin M, Orzan F, Friso A, Clementi M, Tenconi R, Larizza L, Riva P.

Genomics. 2005 Feb;85(2):273-9.

PMID:
15676286
16.

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
17.

Recombination hotspot in NF1 microdeletion patients.

López-Correa C, Dorschner M, Brems H, Lázaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E.

Hum Mol Genet. 2001 Jun 15;10(13):1387-92.

PMID:
11440991
18.
19.

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglböck H, Maertens O, Messiaen L.

Genes Chromosomes Cancer. 2006 Mar;45(3):265-76.

PMID:
16283621
20.

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