Search Results - "Baysal, B E"

Clinical and molecular progress in hereditary paraganglioma by Baysal, B E

“…Hereditary paraganglioma (PGL) is characterised by genetic predisposition to the development of highly vascular tumours of the paraganglionic tissues and…”
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Hereditary paraganglioma targets diverse paraganglia by Baysal, B E

“…Paragangliomas are highly vascularised and often heritable tumours derived from paraganglia, a diffuse neuroendocrine system dispersed from skull base to the…”
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Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas by Baysal, B E, Willett-Brozick, J E, Lawrence, E C, Drovdlic, C M, Savul, S A, McLeod, D R, Yee, H A, Brackmann, D E, Slattery, W H, Myers, E N, Ferrell, R E, Rubinstein, W S

“…Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations…”
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Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma by Baysal, Bora E., Ferrell, Robert E., Willett-Brozick, Joan E., Lawrence, Elizabeth C., Myssiorek, David, Bosch, Anne, van der Mey, Andel, Peter E. M. Taschner, Rubinstein, Wendy S., Myers, Eugene N., Richard, Charles W., Cornelisse, Cees J., Devilee, Peter, Devlin, B.

“…Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the…”
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An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma by Baysal, B E, Willett-Brozick, J E, Filho, P A A, Lawrence, E C, Myers, E N, Ferrell, R E

“…[...]SDHB mutations are transmitted both paternally 11 and maternally. 14 Thus far, transmissions of SDHC mutations causing disease occurred through mothers in…”
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Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation by WILLETT-BROZICK, Joan E, SAVUL, Shazia A, RICHEY, Lauren E, BAYSAL, Bora E

“…Constitutional chromosomal translocations are relatively common causes of human morbidity, yet the DNA double-strand break (DSB) repair mechanisms that…”
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Repositioning the hereditary paraganglioma critical region on chromosome band 11q23 by BAYSAL, B. E, VAN SCHOTHORST, E. M, RICHARD, C. W, FARR, J. E, GRASHOF, P, MYSSIOREK, D, RUBINSTEIN, W. S, TASCHNER, P, CORNELISSE, C. J, DEVLIN, B, DEVILEE, P

“…Hereditary paragangliomas (PGL, glomus tumors, MIM no.168000) are mostly benign, slow-growing tumors of the head and neck region. The gene (or genes) affecting…”
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Centrifugal enhancement of retroviral mediated gene transfer by BAHNSON, A. B, DUNIGAN, J. T, BAYSAL, B. E, MOHNEY, T, ATCHISON, R. W, NIMGAONKAR, M. T, BALL, E. D, BARRANGER, J. A

“…Centrifugation has been used for many years to enhance infection of cultured cells with a variety of different types of viruses, but it has only recently been…”
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On the association of succinate dehydrogenase mutations with hereditary paraganglioma by Baysal, Bora E.

“…Hereditary paraganglioma (PGL) is characterized by the development of slow-growing, highly vascularized tumors that can present either as hormonally silent…”
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Fine Mapping of the Split-Hand/Split-Foot Locus ( SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion by Özen, Rýdvan S., Baysal, Bora E., Devlin, Bernie, Farr, Joan E., Gorry, Michael, Ehrlich, Garth D., Richard, Charles W.

“…Split-hand/split-foot malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human limb malformation characterized by aberrant development of…”
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Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23 by BAYSAL, B. E, FARR, J. E, MYSSIOREK, D, SINGH, D, SAHA, S, GOLLIN, S. M, EVANS, G. A, JAMES, M. R, RICHARD, C. W, RUBINSTEIN, W. S, GALUS, R. A, JOHNSON, K. A, ASTON, C. E, MYERS, E. N, JOHNSON, J. T, CARRAU, R, KIRKPATRICK, S. J

“…Hereditary nonchromaffin paragangliomas (PGL; glomus tumors; MIM 168000) are mostly benign, slow-growing tumors of the head and neck region, inherited from…”
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Genetic Analysis in the Diagnosis of Familial Paragangliomas by Petropoulos, Anna E., Luetje, Charles M., Camarata, Paul J., Keith Whittaker, C., Lee, Graham, Baysal, Bora E.

“…Objectives In the management of two related patients with multicentric glomus jugulare tumors, given the incidence of 1:30,000 with approximately 20% familial…”
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Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect by ASTROM, Kristin, COHEN, Joel E, WILLETT-BROZICK, Joan E, ASTON, Christopher E, BAYSAL, Bora E

“…Hereditary paraganglioma type 1 (PGL1) is characterized by slow-growing and vascularized tumors that often develop in the carotid body (CB) and is caused by…”
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A High-Resolution STS, EST, and Gene-Based Physical Map of the Hereditary Paraganglioma Region on Chromosome 11q23 by Baysal, Bora E., van Schothorst, Evert M., Farr, Joan E., James, Michael R., Devilee, Peter, Richard, Charles W.

“…The genes responsible for hereditary paragangliomas (glomus tumors, MIM No. 168000) have been mapped to two distinct loci on the long arm of chromosome 11…”
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Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene by Taschner, Peter E.M., Jansen, Jeroen C., Baysal, Bora E., Bosch, Anne, Rosenberg, Efraim H., Bröcker-Vriends, Annette H.J.T., van der Mey, Andel G.L., van Ommen, Gert-Jan B., Cornelisse, Cees J., Devilee, Peter

“…Hereditary paragangliomas or glomus tumors are usually benign slow‐growing tumors in the head and neck region. The inheritance pattern of hereditary…”
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Etiopathogenesis and clinical presentation of carotid body tumors by Baysal, Bora E., Myers, Eugene N.

“…The carotid body (CB) is a highly specialized small organ located at the bifurcation of the common carotid artery in the neck and plays an important role in…”
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Genomic structure of the human PLZF gene by van Schothorst, E.M., Prins, D.E.M., Baysal, B.E., Beekman, M., Licht, J.D., Waxman, S., Zelent, A., Cornelisse, C.J., van Ommen, G.J.B., Richard, C.W., Devilee, P.

“…The human PLZF (promyelocytic leukaemia zinc finger) gene encodes a Krüppel-like zinc finger protein, which was identified via the reciprocal translocation…”
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Genetics of familial paragangliomas: past, present, and future by Baysal, B E

“…Genetic studies of hereditary paraganglioma tumors could increase the understanding of the biology of these fascinating tumors, with important clinical…”
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Phenotypic dichotomy in mitochondrial complex II genetic disorders by BAYSAL, Bora E, RUBINSTEIN, Wendy S, TASCHNER, Peter E. M

“…This review presents our current knowledge on the genetic and phenotypic aspects of mitochondrial complex II gene defects. The mutations of the complex II…”
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Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss by Badenhop, Renee F., Cherian, Sanjay, Lord, Reginald S.A., Baysal, Bora E., Taschner, Peter E.M., Schofield, Peter R.

“…Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease…”
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