292 related articles for article (PubMed ID: 8116612)
1. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.
Kayes LM; Burke W; Riccardi VM; Bennett R; Ehrlich P; Rubenstein A; Stephens K
Am J Hum Genet; 1994 Mar; 54(3):424-36. PubMed ID: 8116612
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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. PubMed ID: 11468690
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 8931693
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 10533064
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 1359144
[TBL] [Abstract][Full Text] [Related]
7. 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; 73(1):80-6. PubMed ID: 9375928
[TBL] [Abstract][Full Text] [Related]
8. Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.
Valero MC; Pascual-Castroviejo I; Velasco E; Moreno F; Hernández-Chico C
Hum Genet; 1997 Jun; 99(6):720-6. PubMed ID: 9187663
[TBL] [Abstract][Full Text] [Related]
9. Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.
Kehrer-Sawatzki H; Kluwe L; Fünsterer C; Mautner VF
Hum Genet; 2005 May; 116(6):466-75. PubMed ID: 15776250
[TBL] [Abstract][Full Text] [Related]
10. The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
Leppig KA; Viskochil D; Neil S; Rubenstein A; Johnson VP; Zhu XL; Brothman AR; Stephens K
Cytogenet Cell Genet; 1996; 72(1):95-8. PubMed ID: 8565646
[TBL] [Abstract][Full Text] [Related]
11. Characterization of a single base-pair deletion in neurofibromatosis type 1.
Colman SD; Collins FS; Wallace MR
Hum Mol Genet; 1993 Oct; 2(10):1709-11. PubMed ID: 8268926
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 20052761
[TBL] [Abstract][Full Text] [Related]
13. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
Colman SD; Williams CA; Wallace MR
Nat Genet; 1995 Sep; 11(1):90-2. PubMed ID: 7550323
[TBL] [Abstract][Full Text] [Related]
14. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
Rasmussen SA; Colman SD; Ho VT; Abernathy CR; Arn PH; Weiss L; Schwartz C; Saul RA; Wallace MR
J Med Genet; 1998 Jun; 35(6):468-71. PubMed ID: 9643287
[TBL] [Abstract][Full Text] [Related]
15. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.
Jenne DE; Tinschert S; Stegmann E; Reimann H; Nürnberg P; Horn D; Naumann I; Buske A; Thiel G
Genomics; 2000 May; 66(1):93-7. PubMed ID: 10843809
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.
Orzan F; Stroppi M; Venturin M; Valero MC; Hernández C; Riva P
Neurogenetics; 2008 May; 9(2):95-100. PubMed ID: 18196300
[TBL] [Abstract][Full Text] [Related]
18. Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.
Streubel B; Latta E; Kehrer-Sawatzki H; Hoffmann GF; Fonatsch C; Rehder H
Am J Med Genet; 1999 Nov; 87(1):12-6. PubMed ID: 10528240
[TBL] [Abstract][Full Text] [Related]
19. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
Serra E; Puig S; Otero D; Gaona A; Kruyer H; Ars E; Estivill X; Lázaro C
Am J Hum Genet; 1997 Sep; 61(3):512-9. PubMed ID: 9326316
[TBL] [Abstract][Full Text] [Related]
20. 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; 146A(6):691-9. PubMed ID: 18265407
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
