141 related articles for article (PubMed ID: 16467218)
1. Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.
Mensink KA; Ketterling RP; Flynn HC; Knudson RA; Lindor NM; Heese BA; Spinner RJ; Babovic-Vuksanovic D
J Med Genet; 2006 Feb; 43(2):e8. PubMed ID: 16467218
[TBL] [Abstract][Full Text] [Related]
2. 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;
Hum Mutat; 2010 Jun; 31(6):E1506-18. PubMed ID: 20513137
[TBL] [Abstract][Full Text] [Related]
3. Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.
Kehrer-Sawatzki H; Vogt J; Mußotter T; Kluwe L; Cooper DN; Mautner VF
Neurogenetics; 2012 Aug; 13(3):229-36. PubMed ID: 22581253
[TBL] [Abstract][Full Text] [Related]
4. Childhood overgrowth in patients with common NF1 microdeletions.
Spiegel M; Oexle K; Horn D; Windt E; Buske A; Albrecht B; Prott EC; Seemanová E; Seidel J; Rosenbaum T; Jenne D; Kehrer-Sawatzki H; Tinschert S
Eur J Hum Genet; 2005 Jul; 13(7):883-8. PubMed ID: 15856072
[TBL] [Abstract][Full Text] [Related]
5. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
Mautner VF; Kluwe L; Friedrich RE; Roehl AC; Bammert S; Högel J; Spöri H; Cooper DN; Kehrer-Sawatzki H
J Med Genet; 2010 Sep; 47(9):623-30. PubMed ID: 20543202
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 18183042
[TBL] [Abstract][Full Text] [Related]
7. Growth in neurofibromatosis 1 microdeletion patients.
Ning X; Farschtschi S; Jones A; Kehrer-Sawatzki H; Mautner VF; Friedman JM
Clin Genet; 2016 Mar; 89(3):351-4. PubMed ID: 26111455
[TBL] [Abstract][Full Text] [Related]
8. 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; 73(2):197-204. PubMed ID: 9409873
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 20506354
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16830335
[TBL] [Abstract][Full Text] [Related]
11. Genomic organization and evolution of the NF1 microdeletion region.
De Raedt T; Brems H; Lopez-Correa C; Vermeesch JR; Marynen P; Legius E
Genomics; 2004 Aug; 84(2):346-60. PubMed ID: 15233998
[TBL] [Abstract][Full Text] [Related]
12. Deletion of the entire NF1 gene causing distinct manifestations in a family.
Wu BL; Schneider GH; Korf BR
Am J Med Genet; 1997 Mar; 69(1):98-101. PubMed ID: 9066892
[TBL] [Abstract][Full Text] [Related]
13. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E; Sabbagh A; Hanna N; Masliah-Planchon J; Jolly E; Goussard P; Ballerini P; Cartault F; Barbarot S; Landman-Parker J; Soufir N; Parfait B; Vidaud M; Wolkenstein P; Vidaud D; France RN
J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998
[TBL] [Abstract][Full Text] [Related]
14. Elevated risk for MPNST in NF1 microdeletion patients.
De Raedt T; Brems H; Wolkenstein P; Vidaud D; Pilotti S; Perrone F; Mautner V; Frahm S; Sciot R; Legius E
Am J Hum Genet; 2003 May; 72(5):1288-92. PubMed ID: 12660952
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 15257518
[TBL] [Abstract][Full Text] [Related]
16. Atypical
Kehrer-Sawatzki H; Wahlländer U; Cooper DN; Mautner VF
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34681033
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 18160797
[TBL] [Abstract][Full Text] [Related]
18. Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
Cnossen MH; van der Est MN; Breuning MH; van Asperen CJ; Breslau-Siderius EJ; van der Ploeg AT; de Goede-Bolder A; van den Ouweland AM; Halley DJ; Niermeijer MF
Hum Mutat; 1997; 9(5):458-64. PubMed ID: 9143927
[TBL] [Abstract][Full Text] [Related]
19. Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.
Wimmer K; Decker M; Mayatepek E; Beiglböck H; Eggermann T; Kehrer-Sawatzki H; Fonatsch C; Rosenbaum T
Pediatr Res; 2005 Dec; 58(6):1265-8. PubMed ID: 16306205
[TBL] [Abstract][Full Text] [Related]
20. 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;
Am J Hematol; 2013 Apr; 88(4):306-11. PubMed ID: 23460398
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
