-
1
-
-
56049122457
-
Clinical and molecular progress in hereditary paraganglioma
-
Baysal BE 2008 Clinical and molecular progress in hereditary paraganglioma. J Med Genet 45:689-694
-
(2008)
J Med Genet
, vol.45
, pp. 689-694
-
-
Baysal, B.E.1
-
2
-
-
0036712593
-
Hereditary paraganglioma targets diverse paraganglia
-
Baysal BE 2002 Hereditary paraganglioma targets diverse paraganglia. J Med Genet 39:617-622 (Pubitemid 35001714)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.9
, pp. 617-622
-
-
Baysal, B.E.1
-
3
-
-
84859529859
-
Chemodectomi familiari e non familiari del capo e del collo. Studio Clinico-radiologico di 24 pazienti
-
Fuochi C, Peterlongo P, Moser E, Dalla Palma F, Bolner A, Smiroldo G, Babighian G 1986 Chemodectomi familiari e non familiari del capo e del collo. Studio Clinico-radiologico di 24 pazienti. Riv Med Trentina 24:219-230
-
(1986)
Riv Med Trentina
, vol.24
, pp. 219-230
-
-
Fuochi, C.1
Peterlongo, P.2
Moser, E.3
Dalla Palma, F.4
Bolner, A.5
Smiroldo, G.6
Babighian, G.7
-
5
-
-
0035874016
-
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
-
DOI 10.1002/ajmg.1270
-
Milunsky JM, Maher TA, Michels VV, Milunsky A 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 100:311-314 (Pubitemid 32382404)
-
(2001)
American Journal of Medical Genetics
, vol.100
, Issue.4
, pp. 311-314
-
-
Milunsky, J.M.1
Maher, T.A.2
Michels, V.V.3
Milunsky, A.4
-
6
-
-
42149149867
-
Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis
-
DOI 10.1111/j.1469-1809.2007.00420.x
-
Marroni F, Cipollini G, Peissel B, D'Andrea E, Pensabene M, Radice P, Caligo MA, Presciuttini S, Bevilacqua G 2008 Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis. Ann Hum Genet 72:310-318 (Pubitemid 351524195)
-
(2008)
Annals of Human Genetics
, vol.72
, Issue.3
, pp. 310-318
-
-
Marroni, F.1
Cipollini, G.2
Peissel, B.3
D'andrea, E.4
Pensabene, M.5
Radice, P.6
Caligo, M.A.7
Presciuttini, S.8
Bevilacqua, G.9
-
7
-
-
0029986560
-
First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)
-
Oosterwijk JC, Jansen JC, van Schothorst EM, Oosterhof AW, Devilee P, Bakker E, Zoeteweij MW, van der Mey AG 1996 First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas). J Med Genet 33:379-383 (Pubitemid 26147869)
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.5
, pp. 379-383
-
-
Oosterwijk, J.C.1
Jansen, J.C.2
Van Schothorst, E.M.3
Oosterhof, A.W.4
Devilee, P.5
Bakker, E.6
Zoeteweij, M.W.7
Van Der, M.A.G.L.8
-
8
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
European-American Paraganglioma Study Group [Erratum (2004) 292: 1686]
-
Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C, European-American Paraganglioma Study Group 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA [Erratum (2004) 292: 1686] 292:943-951
-
(2004)
JAMA
, vol.292
, pp. 943-951
-
-
Neumann, H.P.1
Pawlu, C.2
Peczkowska, M.3
Bausch, B.4
McWhinney, S.R.5
Muresan, M.6
Buchta, M.7
Franke, G.8
Klisch, J.9
Bley, T.A.10
Hoegerle, S.11
Boedeker, C.C.12
Opocher, G.13
Schipper, J.14
Januszewicz, A.15
Eng, C.16
-
9
-
-
22944470082
-
Carotid body paraganglioma and SDHD mutation in a Greek family
-
Liapis CD, Bellos JK, Halapas A, Lembessis P, Koutsilieris M, Kostakis A 2005 Carotid body paraganglioma and SDHD mutation in a Greek family. Anticancer Res 25:2449-2452 (Pubitemid 41044730)
-
(2005)
Anticancer Research
, vol.25
, Issue.3 C
, pp. 2449-2452
-
-
Liapis, C.D.1
Bellos, J.K.2
Halapas, A.3
Lembessis, P.4
Koutsilieris, M.5
Kostakis, A.6
-
10
-
-
22944440056
-
Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas
-
Braun S, Riemann K, Kupka S, Leistenschneider P, Sotlar K, Schmid H, Blin N 2005 Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas. Anticancer Res 25: 2809-2814 (Pubitemid 41044666)
-
(2005)
Anticancer Research
, vol.25
, Issue.4
, pp. 2809-2814
-
-
Braun, S.1
Riemann, K.2
Kupka, S.3
Leistenschneider, P.4
Sotlar, K.5
Schmid, H.6
Blin, N.7
-
11
-
-
33644822473
-
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes
-
DOI 10.1210/jc.2005-1862
-
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91:827-836 (Pubitemid 43357746)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.3
, pp. 827-836
-
-
Benn, D.E.1
Gimenez-Roqueplo, A.-P.2
Reilly, J.R.3
Bertherat, J.4
Burgess, J.5
Byth, K.6
Croxson, M.7
Dahia, P.L.M.8
Elston, M.9
Gimm, O.10
Henley, D.11
Herman, P.12
Murday, V.13
Niccoli-Sire, P.14
Pasieka, J.L.15
Rohmer, V.16
Tucker, K.17
Jeunemaitre, X.18
Marsh, D.J.19
Plouin, P.-F.20
Robinson, B.G.21
more..
-
12
-
-
37349030767
-
Systematic screening and treatment evaluation of hereditary neck paragangliomas
-
DOI 10.1002/hed.20638
-
Fish JH, Klein-Weigel P, Biebl M, Janecke A, Tauscher T, Fraedrich G 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas. Head Neck 29:864-873 (Pubitemid 350303675)
-
(2007)
Head and Neck
, vol.29
, Issue.9
, pp. 864-873
-
-
Fish III, J.H.1
Klein-Weigel, P.2
Biebl, M.3
Janecke, A.4
Tauscher, T.5
Fraedrich, G.6
-
14
-
-
66849143816
-
SDH mutations in tumorigenesis and inherited endocrine tumours: Lesson from the phaeochromocytoma-paraganglioma syndromes
-
Pasini B, Stratakis CA 2009 SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med 266:19-42
-
(2009)
J Intern Med
, vol.266
, pp. 19-42
-
-
Pasini, B.1
Stratakis, C.A.2
-
15
-
-
0032231351
-
Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands
-
DOI 10.1086/301951
-
van Schothorst EM, Jansen JC, Grooters E, Prins DE, Wiersinga JJ, van der Mey AG, van Ommen GJ, Devilee P, Cornelisse CJ 1998 Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands. Am J Hum Genet 63:468-473 (Pubitemid 30418628)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.2
, pp. 468-473
-
-
Van Schothorst, E.M.1
Jansen, J.C.2
Grooters, E.3
Prins, D.E.M.4
Wiersinga, J.J.5
Van Der, M.A.G.L.6
Van Ommen, G.-J.B.7
Devilee, P.8
Cornelisse, C.J.9
-
16
-
-
0034998621
-
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
-
DOI 10.1002/gcc.1144
-
Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Bröcker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P 2001 Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 31:274-281 (Pubitemid 32521758)
-
(2001)
Genes Chromosomes and Cancer
, vol.31
, Issue.3
, pp. 274-281
-
-
Taschner, P.E.M.1
Jansen, J.C.2
Baysal, B.E.3
Bosch, A.4
Rosenberg, E.H.5
Brocker-Vriends, A.H.J.T.6
Van Der, M.A.G.L.7
Van Ommen, G.-J.B.8
Cornelisse, C.J.9
Devilee, P.10
-
17
-
-
77449121207
-
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
-
Hensen EF, Jansen JC, Siemers MD, Oosterwijk JC, Vriends AH, Corssmit EP, Bayley JP, van der Mey AG, Cornelisse CJ, Devilee P 2010 The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. Eur J Hum Genet 18:62-66
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 62-66
-
-
Hensen, E.F.1
Jansen, J.C.2
Siemers, M.D.3
Oosterwijk, J.C.4
Vriends, A.H.5
Corssmit, E.P.6
Bayley, J.P.7
Van Der Mey, A.G.8
Cornelisse, C.J.9
Devilee, P.10
-
18
-
-
84856489266
-
High prevalence of founder mutations of the succinate dehydrogenase genes in The Netherlands
-
Hensen E, van Duinen N, Jansen J, Corssmit E, Tops C, Romijn J, Vriends A, van der Mey A, Cornelisse C, Devilee P, Bayley J 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in The Netherlands. Clin Genet 81:284-288
-
(2012)
Clin Genet
, vol.81
, pp. 284-288
-
-
Hensen, E.1
Van Duinen, N.2
Jansen, J.3
Corssmit, E.4
Tops, C.5
Romijn, J.6
Vriends, A.7
Van Der Mey, A.8
Cornelisse, C.9
Devilee, P.10
Bayley, J.11
-
19
-
-
83155168436
-
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect
-
Yeap PM, Tobias ES, Mavraki E, Fletcher A, Bradshaw N, Freel EM, Cooke A, Murday VA, Davidson HR, Perry CG, Lindsay RS 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. J Clin Endocrinol Metab 96:E2009-E2013
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Yeap, P.M.1
Tobias, E.S.2
Mavraki, E.3
Fletcher, A.4
Bradshaw, N.5
Freel, E.M.6
Cooke, A.7
Murday, V.A.8
Davidson, H.R.9
Perry, C.G.10
Lindsay, R.S.11
-
20
-
-
0042566135
-
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: Evidence for an oxygen-sensing defect
-
DOI 10.1007/s00439-003-0969-6
-
Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet 113:228-237 (Pubitemid 36992281)
-
(2003)
Human Genetics
, vol.113
, Issue.3
, pp. 228-237
-
-
Astrom, K.1
Cohen, J.E.2
Willett-Brozick, J.E.3
Aston, C.E.4
Baysal, B.E.5
|