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Autor:
Jansen Jeroen C, Romijn Johannes A, Morreau Hans, Stokkel Marcel PM, Bonsing Bert A, van Bunderen Patrick A, de Miranda Noel F, Woortman Sanne A, Weiss Marjan M, Hes Frederik J, Vriends Annette HJT, Bayley Jean-Pierre L, Corssmit Eleonora PM
Publikováno v:
BMC Medical Genetics, Vol 11, Iss 1, p 92 (2010)
Abstract Background Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate
Externí odkaz:
https://doaj.org/article/aa5b92ef78d84d4085dc829d0adffb32
Autor:
Devilee Peter, Dullaart Robin PF, Jansen Jeroen C, Lenders Jacques W, Kunst Henricus P, van der Wielen Michiel, van Bunderen Patrick A, Grimbergen Anneliese EM, Bayley Jean-Pierre, Corssmit Eleonora P, Vriends Annette H, Losekoot Monique, Weiss Marjan M
Publikováno v:
BMC Medical Genetics, Vol 10, Iss 1, p 34 (2009)
Abstract Background Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH), the mitochondrial tricarb
Externí odkaz:
https://doaj.org/article/14184d58d89e4859a739fe430b2415ce
Autor:
Grasso M; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy. Electronic address: marina.grasso@galliera.it., Boon EM; Laboratory for Diagnostic Genome Analysis, Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Filipovic-Sadic S; Asuragen, Inc., Austin, Texas., van Bunderen PA; Laboratory for Diagnostic Genome Analysis, Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Gennaro E; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy., Cao R; Asuragen, Inc., Austin, Texas., Latham GJ; Asuragen, Inc., Austin, Texas., Hadd AG; Asuragen, Inc., Austin, Texas., Coviello DA; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2014 Jan; Vol. 16 (1), pp. 23-31. Date of Electronic Publication: 2013 Oct 29.
Autor:
Hes FJ; Department of Clinical Genetics, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, The Netherlands. f.j.hes@lumc.nl, Weiss MM, Woortman SA, de Miranda NF, van Bunderen PA, Bonsing BA, Stokkel MP, Morreau H, Romijn JA, Jansen JC, Vriends AH, Bayley JP, Corssmit EP
Publikováno v:
BMC medical genetics [BMC Med Genet] 2010 Jun 11; Vol. 11, pp. 92. Date of Electronic Publication: 2010 Jun 11.
Autor:
Bayley JP; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.p.l.bayley@lumc.nl, Grimbergen AE, van Bunderen PA, van der Wielen M, Kunst HP, Lenders JW, Jansen JC, Dullaart RP, Devilee P, Corssmit EP, Vriends AH, Losekoot M, Weiss MM
Publikováno v:
BMC medical genetics [BMC Med Genet] 2009 Apr 15; Vol. 10, pp. 34. Date of Electronic Publication: 2009 Apr 15.