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Items: 1 to 20 of 63

1.
2.

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
3.

Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.

Dannenberg H, Dinjens WN, Abbou M, Van Urk H, Pauw BK, Mouwen D, Mooi WJ, de Krijger RR.

Clin Cancer Res. 2002 Jul;8(7):2061-6.

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.

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.

PMID:
17987308
6.

Carotid body paraganglioma and SDHD mutation in a Greek family.

Liapis CD, Bellos JK, Halapas A, Lembessis P, Koutsilieris M, Kostakis A.

Anticancer Res. 2005 May-Jun;25(3c):2449-52.

7.

Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

Simi L, Sestini R, Ferruzzi P, Gaglianò MS, Gensini F, Mascalchi M, Guerrini L, Pratesi C, Pinzani P, Nesi G, Ercolino T, Genuardi M, Mannelli M.

J Med Genet. 2005 Aug;42(8):e52.

8.

The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.

Bayley JP, 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.

BMC Med Genet. 2009 Apr 15;10:34. doi: 10.1186/1471-2350-10-34.

9.

A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.

Prontera P, Ferrando B, Giuliani V, Falcinelli F, Mencarelli A, Rogaia D, Pasini B, Donti E.

Genet Couns. 2008;19(4):413-8.

PMID:
19239085
10.

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.

11.

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
12.

Novel SDHD germ-line mutations in pheochromocytoma patients.

Neumayer C, Moritz A, Asari R, Weinhäusel A, Hölzenbein T, Kretschmer G, Niederle B, Haas OA.

Eur J Clin Invest. 2007 Jul;37(7):544-51.

PMID:
17576205
13.

Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE.

Hum Genet. 2003 Aug;113(3):228-37.

PMID:
12811540
14.

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.

Anticancer Res. 2005 Jul-Aug;25(4):2809-14.

15.

Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD.

Dannenberg H, van Nederveen FH, Abbou M, Verhofstad AA, Komminoth P, de Krijger RR, Dinjens WN.

J Clin Oncol. 2005 Mar 20;23(9):1894-901.

PMID:
15774781
16.

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
18.

A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma.

Ogawa K, Shiga K, Saijo S, Ogawa T, Kimura N, Horii A.

Am J Med Genet A. 2006 Nov 15;140(22):2441-6.

PMID:
17041923
19.

SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

Mannelli M, Simi L, Ercolino T, Gaglianò MS, Becherini L, Vinci S, Sestini R, Gensini F, Pinzani P, Mascalchi M, Guerrini L, Pratesi C, Nesi G, Torti F, Cipollini F, Bernini GP, Genuardi M.

Ann N Y Acad Sci. 2006 Aug;1073:183-9.

PMID:
17102085
20.

Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.

Niemann S, Müller U, Engelhardt D, Lohse P.

Hum Genet. 2003 Jul;113(1):92-4.

PMID:
12658451
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