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Results: 1-12 |
Results: 12
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss
Authors: Badenhop, RF Cherian, S Lord, RSA Baysal, BE Taschner, PEM Schofield, PR
Citation: Rf. Badenhop et al., Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss, GENE CHROM, 31(3), 2001, pp. 255-263
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
Authors: Taschner, PEM Jansen, JC Baysal, BE Bosch, A Rosenberg, EH Brocker-Vriends, AHJT van der Mey, AGL van Ommen, GJB Cornelisse, CJ Devilee, P
Citation: Pem. Taschner et al., Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene, GENE CHROM, 31(3), 2001, pp. 274-281
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-MbBAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region
Authors: Baysal, BE Willett-Brozick, JE Taschner, PEM Dauwerse, JG Devilee, P Devlin, B
Citation: Be. Baysal et al., A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-MbBAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region, EUR J HUM G, 9(2), 2001, pp. 121-129
Phenotypic dichotomy in mitochondrial complex II genetic disorders
Authors: Baysal, BE Rubinstein, WS Taschner, PEM
Citation: Be. Baysal et al., Phenotypic dichotomy in mitochondrial complex II genetic disorders, J MOL MED-J, 79(9), 2001, pp. 495-503
Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation
Authors: Willett-Brozick, JE Savul, SA Richey, LE Baysal, BE
Citation: Je. Willett-brozick et al., Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation, HUM GENET, 109(2), 2001, pp. 216-223
Genetics of familial paragangliomas - Past, present, and future
Authors: Baysal, BE
Citation: Be. Baysal, Genetics of familial paragangliomas - Past, present, and future, OTOLAR CLIN, 34(5), 2001, pp. 863
Proportion of heritable paraganglioma cases and associated clinical characteristics
Authors: Drovdlic, CM Myers, EN Peters, JA Baysal, BE Brackmann, DE Slattery, WH Rubinstein, WS
Citation: Cm. Drovdlic et al., Proportion of heritable paraganglioma cases and associated clinical characteristics, LARYNGOSCOP, 111(10), 2001, pp. 1822-1827
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
Authors: Baysal, BE Ferrell, RE Willett-Brozick, JE Lawrence, EC Myssiorek, D Bosch, A van der Mey, A Taschner, PEM Rubinstein, WS Myers, EN Richard, CW Cornelisse, CJ Devilee, P Devlin, B
Citation: Be. Baysal et al., Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma, SCIENCE, 287(5454), 2000, pp. 848-851
Genetic analysis in the diagnosis of familial paragangliomas
Authors: Petropoulos, AE Luetje, CM Camarata, PJ Whittaker, CK Lee, G Baysal, BE
Citation: Ae. Petropoulos et al., Genetic analysis in the diagnosis of familial paragangliomas, LARYNGOSCOP, 110(7), 2000, pp. 1225-1229
Genomic structure of the human PLZF gene
Authors: van Schothorst, EM Prins, DEM Baysal, BE Beekman, M Licht, JD Waxman, S Zelent, A Cornelisse, CJ van Ommen, GJB Richard, CW Devilee, P
Citation: Em. Van Schothorst et al., Genomic structure of the human PLZF gene, GENE, 236(1), 1999, pp. 21-24
Repositioning the hereditary paraganglioma critical region on chromosome band 11q23
Authors: Baysal, BE van Schothorst, EM Farr, JE Grashof, P Myssiorek, D Rubinstein, WS Taschner, P Cornelisse, CJ Devlin, B Devilee, P Richard, CW
Citation: Be. Baysal et al., Repositioning the hereditary paraganglioma critical region on chromosome band 11q23, HUM GENET, 104(3), 1999, pp. 219-225
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: Evidencefor anticipation and segregation distortion
Authors: Ozen, RS Baysal, BE Devlin, B Farr, JE Gorry, M Ehrlich, GD Richard, CW
Citation: Rs. Ozen et al., Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: Evidencefor anticipation and segregation distortion, AM J HU GEN, 64(6), 1999, pp. 1646-1654
Risultati: 1-12 |