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Items: 1 to 20 of 176

1.
2.

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.

Riva P, Castorina P, Manoukian S, Dalprà L, Doneda L, Marini G, den Dunnen J, Larizza L.

Hum Genet. 1996 Dec;98(6):646-50.

PMID:
8931693
3.

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
4.

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.

5.

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.

6.

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.

Wu BL, Boles RG, Yaari H, Weremowicz S, Schneider GH, Korf BR.

Hum Genet. 1997 Feb;99(2):209-13.

PMID:
9048923
7.

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E.

Cytogenet Genome Res. 2007;119(1-2):158-64. Epub 2007 Dec 14.

PMID:
18160797
8.

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
9.

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K.

J Med Genet. 1992 Oct;29(10):686-90.

10.

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
11.
12.

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

Pasmant E, de Saint-Trivier A, Laurendeau I, Dieux-Coeslier A, Parfait B, Vidaud M, Vidaud D, Bièche I.

Eur J Hum Genet. 2008 Dec;16(12):1459-66. doi: 10.1038/ejhg.2008.134. Epub 2008 Jul 23.

13.

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
14.

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
15.

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
16.

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Upadhyaya M, Roberts SH, Maynard J, Sorour E, Thompson PW, Vaughan M, Wilkie AO, Hughes HE.

J Med Genet. 1996 Feb;33(2):148-52.

17.

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
18.

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

van Asperen CJ, Overweg-Plandsoen WC, Cnossen MH, van Tijn DA, Hennekam RC.

J Med Genet. 1998 Apr;35(4):323-7.

19.

17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one.

Asamoah A, North K, Doran S, Wagstaff J, Ogle R, Collins FS, Korf BR.

Am J Med Genet. 1995 Aug 14;60(4):312-6.

PMID:
7485267
20.

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

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