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Items: 1 to 20 of 193

1.

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Matthias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stöver T, Fottner C, Gorgulla H, Malekpour M, Zarandy MM, Schipper J, Brase C, Glien A, Kühnemund M, Koscielny S, Schwerdtfeger P, Välimäki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C.

Cancer Res. 2009 Apr 15;69(8):3650-6. doi: 10.1158/0008-5472.CAN-08-4057. Epub 2009 Apr 7.

2.

Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

Erlic Z, Rybicki L, Peczkowska M, Golcher H, Kann PH, Brauckhoff M, Müssig K, Muresan M, Schäffler A, Reisch N, Schott M, Fassnacht M, Opocher G, Klose S, Fottner C, Forrer F, Plöckinger U, Petersenn S, Zabolotny D, Kollukch O, Yaremchuk S, Januszewicz A, Walz MK, Eng C, Neumann HP; European-American Pheochromocytoma Study Group.

Clin Cancer Res. 2009 Oct 15;15(20):6378-85. doi: 10.1158/1078-0432.CCR-09-1237. Epub 2009 Oct 13.

3.

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

Astuti D, Hart-Holden N, Latif F, Lalloo F, Black GC, Lim C, Moran A, Grossman AB, Hodgson SV, Freemont A, Ramsden R, Eng C, Evans DG, Maher ER.

Clin Endocrinol (Oxf). 2003 Dec;59(6):728-33.

PMID:
14974914
4.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE.

BMC Med Genet. 2006 Jan 11;7:1.

5.

Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.

Schiavi F, Savvoukidis T, Trabalzini F, Grego F, Piazza M, Amistà P, Demattè S, Del Piano A, Cecchini ME, Erlic Z, De Lazzari P, Mantero F, Opocher G.

Ann N Y Acad Sci. 2006 Aug;1073:190-7.

PMID:
17102086
6.

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

Schiavi F, Boedeker CC, Bausch B, Peçzkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Välimäki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP; European-American Paraganglioma Study Group.

JAMA. 2005 Oct 26;294(16):2057-63. Erratum in: JAMA. 2006 Feb 8;295(6):628.

PMID:
16249420
7.

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS.

J Med Genet. 2002 Mar;39(3):178-83.

8.

SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

Mhatre AN, Li Y, Feng L, Gasperin A, Lalwani AK.

Clin Genet. 2004 Nov;66(5):461-6.

PMID:
15479192
9.

Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.

Bayley JP, Weiss MM, Grimbergen A, van Brussel BT, Hes FJ, Jansen JC, Verhoef S, Devilee P, Corssmit EP, Vriends AH.

Endocr Relat Cancer. 2009 Sep;16(3):929-37. doi: 10.1677/ERC-09-0084. Epub 2009 Jun 22.

10.

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

Persu A, Hamoir M, Grégoire V, Garin P, Duvivier E, Reychler H, Chantrain G, Mortier G, Mourad M, Maiter D, Vikkula M.

J Hypertens. 2008 Jul;26(7):1395-401. doi: 10.1097/HJH.0b013e3282ffdc54.

PMID:
18551016
11.

Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.

Velasco A, Palomar-Asenjo V, Gañan L, Catasus L, Llecha N, Panizo A, Palomar-Garcia V, Quer M, Matias-Guiu X.

Diagn Mol Pathol. 2005 Jun;14(2):109-14.

PMID:
15905695
12.

Malignant head and neck paragangliomas in SDHB mutation carriers.

Boedeker CC, Neumann HP, Maier W, Bausch B, Schipper J, Ridder GJ.

Otolaryngol Head Neck Surg. 2007 Jul;137(1):126-9.

PMID:
17599579
13.

Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez-Roqueplo AP, Cascon A, Robledo M, de Campos JM, van Nederveen FH, de Krijger RR, Burnichon N, Gaal J, Walter MA, Reschke K, Wiech T, Weber J, Rückauer K, Plouin PF, Darrouzet V, Giraud S, Eng C, Neumann HP.

J Clin Endocrinol Metab. 2009 Jun;94(6):1938-44. doi: 10.1210/jc.2009-0354. Epub 2009 Mar 31. Review.

14.

Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

Meyer-Rochow GY, Smith JM, Richardson AL, Marsh DJ, Sidhu SB, Robinson BG, Benn DE.

J Surg Res. 2009 Nov;157(1):55-62. doi: 10.1016/j.jss.2008.07.043. Epub 2008 Sep 4.

PMID:
19215943
15.

Genetic and clinical characteristics of head and neck paragangliomas in a Chinese population.

Zheng X, Wei S, Yu Y, Xia T, Zhao J, Gao S, Li Y, Gao M.

Laryngoscope. 2012 Aug;122(8):1761-6. doi: 10.1002/lary.23360. Epub 2012 May 7.

PMID:
22566157
16.

The genetics of paragangliomas: a review.

Martin TP, Irving RM, Maher ER.

Clin Otolaryngol. 2007 Feb;32(1):7-11. Review.

PMID:
17298303
17.

Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: an update.

Persu A, Lannoy N, Maiter D, Mendola A, Montigny P, Oriot P, Vinck W, Garin P, Hamoir M, Vikkula M.

Horm Metab Res. 2012 May;44(5):349-53. doi: 10.1055/s-0032-1311610. Epub 2012 May 7.

PMID:
22566194
18.

Cervical paragangliomas: is SDH genetic analysis systematically required?

Fakhry N, Niccoli-Sire P, Barlier-Seti A, Giorgi R, Giovanni A, Zanaret M.

Eur Arch Otorhinolaryngol. 2008 May;265(5):557-63. Epub 2007 Nov 7.

PMID:
17987308
19.

Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes.

Benn DE, Richardson AL, Marsh DJ, Robinson BG.

Ann N Y Acad Sci. 2006 Aug;1073:104-11. Review.

PMID:
17102077
20.

Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations.

Ercolino T, Becherini L, Valeri A, Maiello M, Gaglianò MS, Parenti G, Ramazzotti M, Piscitelli E, Simi L, Pinzani P, Nesi G, Degl'Innocenti D, Console N, Bergamini C, Mannelli M.

Clin Endocrinol (Oxf). 2008 May;68(5):762-8. Epub 2007 Nov 19.

PMID:
18031321
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