205 related articles for article (PubMed ID: 1359144)
1. 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]
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. PubMed ID: 8931693
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 8929953
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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. PubMed ID: 14564162
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
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. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.
Ruggieri M; D'Arrigo G; Abbate M; Distefano A; Upadhyaya M
Eur J Pediatr; 2000 Jul; 159(7):477-80. PubMed ID: 10923217
[TBL] [Abstract][Full Text] [Related]
12. Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.
Ainsworth PJ; Chakraborty PK; Weksberg R
Hum Mutat; 1997; 9(5):452-7. PubMed ID: 9143926
[TBL] [Abstract][Full Text] [Related]
13. Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers.
Kittur SD; Bagdon MM; Lubs ML; Phillips JA; Murray JC; Slaugenhaupt SA; Chakravarti A; Adler WH
Am J Hum Genet; 1989 Jan; 44(1):48-50. PubMed ID: 2491782
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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; 60(4):312-6. PubMed ID: 7485267
[TBL] [Abstract][Full Text] [Related]
17. Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia.
Pulst SM; Pribyl T; Barker DF; Riccardi VM; Ren M; Yaari H; Korenberg JR
Am J Med Genet; 1991 Jul; 40(1):84-7. PubMed ID: 1909491
[TBL] [Abstract][Full Text] [Related]
18. Somatic mosaicism in a patient with neurofibromatosis type 1.
Colman SD; Rasmussen SA; Ho VT; Abernathy CR; Wallace MR
Am J Hum Genet; 1996 Mar; 58(3):484-90. PubMed ID: 8644707
[TBL] [Abstract][Full Text] [Related]
19. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.
Lázaro C; Gaona A; Ainsworth P; Tenconi R; Vidaud D; Kruyer H; Ars E; Volpini V; Estivill X
Hum Genet; 1996 Dec; 98(6):696-9. PubMed ID: 8931703
[TBL] [Abstract][Full Text] [Related]
20. The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene.
Kayes LM; Schroeder WT; Marchuk DA; Collins FS; Riccardi VM; Duvic M; Stephens K
Genomics; 1992 Oct; 14(2):369-76. PubMed ID: 1358802
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]