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Items: 1 to 20 of 221

1.

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M.

J Clin Endocrinol Metab. 2009 May;94(5):1701-5. doi: 10.1210/jc.2008-2756. Epub 2009 Mar 3.

PMID:
19258401
2.

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge L, Pullan PT, Hammond J, Marsh DJ, Robinson BG.

Oncogene. 2003 Mar 6;22(9):1358-64.

PMID:
12618761
3.

Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.

Kim JH, Seong MW, Lee KE, Choi HJ, Ku EJ, Bae JH, Park SS, Choi SH, Kim SW, Shin C, Kim SY.

Clin Genet. 2014 Nov;86(5):482-6. doi: 10.1111/cge.12304. Epub 2013 Nov 15.

PMID:
24134185
4.

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.

Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP.

J Clin Endocrinol Metab. 2010 Jan;95(1):308-13. doi: 10.1210/jc.2009-1728. Epub 2009 Nov 11.

5.

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
6.

Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.

Cascón A, López-Jiménez E, Landa I, Leskelä S, Leandro-García LJ, Maliszewska A, Letón R, de la Vega L, García-Barcina MJ, Sanabria C, Alvarez-Escolá C, Rodríguez-Antona C, Robledo M.

Horm Metab Res. 2009 Sep;41(9):672-5. doi: 10.1055/s-0029-1202814. Epub 2009 Apr 2.

PMID:
19343621
7.

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

Pandit R, Khadilkar K, Sarathi V, Kasaliwal R, Goroshi M, Khare S, Nair S, Raghavan V, Dalvi A, Hira P, Fernandes G, Sathe P, Rojekar A, Malhotra G, Bakshi G, Prakash G, Bhansali A, Walia R, Kamalanathan S, Sahoo J, Desai A, Bhagwat N, Mappa P, Rajput R, Chandrashekhar SR, Shivane V, Menon P, Lila A, Bandgar T, Shah N.

Eur J Endocrinol. 2016 Oct;175(4):311-23. doi: 10.1530/EJE-16-0126. Erratum in: Eur J Endocrinol. 2016 Dec;175(6):X3.

PMID:
27539324
8.

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

van Nederveen FH, Gaal J, Favier J, Korpershoek E, Oldenburg RA, de Bruyn EM, Sleddens HF, Derkx P, Rivière J, Dannenberg H, Petri BJ, Komminoth P, Pacak K, Hop WC, Pollard PJ, Mannelli M, Bayley JP, Perren A, Niemann S, Verhofstad AA, de Bruïne AP, Maher ER, Tissier F, Méatchi T, Badoual C, Bertherat J, Amar L, Alataki D, Van Marck E, Ferrau F, François J, de Herder WW, Peeters MP, van Linge A, Lenders JW, Gimenez-Roqueplo AP, de Krijger RR, Dinjens WN.

Lancet Oncol. 2009 Aug;10(8):764-71. doi: 10.1016/S1470-2045(09)70164-0. Epub 2009 Jul 1.

9.

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Welander J, Andreasson A, Juhlin CC, Wiseman RW, Bäckdahl M, Höög A, Larsson C, Gimm O, Söderkvist P.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1352-60. doi: 10.1210/jc.2013-4375. Epub 2014 Apr 2.

10.

Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.

Gill AJ, Benn DE, Chou A, Clarkson A, Muljono A, Meyer-Rochow GY, Richardson AL, Sidhu SB, Robinson BG, Clifton-Bligh RJ.

Hum Pathol. 2010 Jun;41(6):805-14. doi: 10.1016/j.humpath.2009.12.005. Epub 2010 Mar 17.

PMID:
20236688
11.

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

Cascón A, Montero-Conde C, Ruiz-Llorente S, Mercadillo F, Letón R, Rodríguez-Antona C, Martínez-Delgado B, Delgado M, Díez A, Rovira A, Díaz JA, Robledo M.

Genes Chromosomes Cancer. 2006 Mar;45(3):213-9.

PMID:
16258955
12.

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.

13.

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peçzkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group.

N Engl J Med. 2002 May 9;346(19):1459-66.

14.

Genetic testing in pheochromocytoma or functional paraganglioma.

Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP.

J Clin Oncol. 2005 Dec 1;23(34):8812-8.

PMID:
16314641
15.

Pheochromocytoma: an update on genetics and management.

Karagiannis A, Mikhailidis DP, Athyros VG, Harsoulis F.

Endocr Relat Cancer. 2007 Dec;14(4):935-56. Review.

16.

Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.

Korpershoek E, Petri BJ, van Nederveen FH, Dinjens WN, Verhofstad AA, de Herder WW, Schmid S, Perren A, Komminoth P, de Krijger RR.

Endocr Relat Cancer. 2007 Jun;14(2):453-62.

17.

Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations.

King KS, Prodanov T, Kantorovich V, Fojo T, Hewitt JK, Zacharin M, Wesley R, Lodish M, Raygada M, Gimenez-Roqueplo AP, McCormack S, Eisenhofer G, Milosevic D, Kebebew E, Stratakis CA, Pacak K.

J Clin Oncol. 2011 Nov 1;29(31):4137-42. doi: 10.1200/JCO.2011.34.6353. Epub 2011 Oct 3.

18.

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
19.

Long-term prognosis of patients with pediatric pheochromocytoma.

Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP.

Endocr Relat Cancer. 2013 Dec 16;21(1):17-25. doi: 10.1530/ERC-13-0415. Print 2014 Feb.

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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