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Items: 1 to 20 of 132

1.

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.

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.

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.

4.

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
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.

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.

7.

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
8.
9.

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

Grisart B, Rack K, Vidrequin S, Hilbert P, Deltenre P, Verellen-Dumoulin C, Destrée A.

Eur J Hum Genet. 2008 Mar;16(3):305-11. doi: 10.1038/sj.ejhg.5201978. Epub 2008 Jan 9.

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.

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
12.

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Sanlaville D, Gosset P, Prieur M, Labenne M, Huet F, Mugneret F.

Am J Med Genet A. 2006 Sep 1;140A(17):1859-63.

PMID:
16892304
13.

Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.

Kehrer-Sawatzki H, Assum G, Hameister H.

Hum Genet. 2002 Oct;111(4-5):465-7; author reply 468-9. Epub 2002 Jul 24.

PMID:
12384794
14.

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.

PMID:
15066327
15.

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
16.

[Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].

von Beust G, Laccone FA, del Pilar Andrino M, Wessel A.

Klin Padiatr. 2000 Nov-Dec;212(6):299-307. German.

PMID:
11190824
17.

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
18.

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.

Jenne DE, Tinschert S, Dorschner MO, Hameister H, Stephens K, Kehrer-Sawatzki H.

Genes Chromosomes Cancer. 2003 Jun;37(2):111-20.

PMID:
12696059
19.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
20.

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A.

Am J Med Genet. 1999 Jan 29;82(3):249-53.

PMID:
10215549

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