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Items: 1 to 20 of 333

1.

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

Currás-Freixes M, Inglada-Pérez L, Mancikova V, Montero-Conde C, Letón R, Comino-Méndez I, Apellániz-Ruiz M, Sánchez-Barroso L, Aguirre Sánchez-Covisa M, Alcázar V, Aller J, Álvarez-Escolá C, Andía-Melero VM, Azriel-Mira S, Calatayud-Gutiérrez M, Díaz JÁ, Díez-Hernández A, Lamas-Oliveira C, Marazuela M, Matias-Guiu X, Meoro-Avilés A, Patiño-García A, Pedrinaci S, Riesco-Eizaguirre G, Sábado-Álvarez C, Sáez-Villaverde R, Sainz de Los Terreros A, Sanz Guadarrama Ó, Sastre-Marcos J, Scolá-Yurrita B, Segura-Huerta Á, Serrano-Corredor Mde L, Villar-Vicente MR, Rodríguez-Antona C, Korpershoek E, Cascón A, Robledo M.

J Med Genet. 2015 Oct;52(10):647-56. doi: 10.1136/jmedgenet-2015-103218. Epub 2015 Aug 12.

PMID:
26269449
2.

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
3.

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.

4.

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.

PMID:
17639058
5.

Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

Fishbein L, Nathanson KL.

Cancer Genet. 2012 Jan-Feb;205(1-2):1-11. doi: 10.1016/j.cancergen.2012.01.009. Review.

6.

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F, Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1248-56. doi: 10.1210/jc.2013-1319. Epub 2013 May 10.

PMID:
23666964
7.

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
8.

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

Patócs A, Lendvai NK, Butz H, Liko I, Sapi Z, Szucs N, Toth G, Grolmusz VK, Igaz P, Toth M, Rácz K.

Pathol Oncol Res. 2016 Oct;22(4):673-9. doi: 10.1007/s12253-016-0050-0. Epub 2016 Mar 9.

PMID:
26960314
9.

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group.

JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223.

10.

Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.

de Cubas AA, Leandro-García LJ, Schiavi F, Mancikova V, Comino-Méndez I, Inglada-Pérez L, Perez-Martinez M, Ibarz N, Ximénez-Embún P, López-Jiménez E, Maliszewska A, Letón R, Gómez Graña A, Bernal C, Alvarez-Escolá C, Rodríguez-Antona C, Opocher G, Muñoz J, Megias D, Cascón A, Robledo M.

Endocr Relat Cancer. 2013 Jun 24;20(4):477-93. doi: 10.1530/ERC-12-0183. Print 2013 Aug.

PMID:
23660872
11.

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DG, Hodgson SV, Irving R, Woodward E, Macdonald F, Maher ER.

Clin Endocrinol (Oxf). 2013 Jun;78(6):898-906. doi: 10.1111/cen.12074. Epub 2013 Apr 6.

PMID:
23072324
12.

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.

13.

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
14.

Routine genetic screening with a multi-gene panel in patients with pheochromocytomas.

Sbardella E, Cranston T, Isidori AM, Shine B, Pal A, Jafar-Mohammadi B, Sadler G, Mihai R, Grossman AB.

Endocrine. 2018 Jan;59(1):175-182. doi: 10.1007/s12020-017-1310-9. Epub 2017 May 5.

PMID:
28477304
15.

Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors.

Babic B, Patel D, Aufforth R, Assadipour Y, Sadowski SM, Quezado M, Nilubol N, Prodanov T, Pacak K, Kebebew E.

Surgery. 2017 Jan;161(1):220-227. doi: 10.1016/j.surg.2016.05.059. Epub 2016 Nov 16.

16.

MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours.

Crona J, Maharjan R, Delgado Verdugo A, Stålberg P, Granberg D, Hellman P, Björklund P.

Fam Cancer. 2014 Mar;13(1):121-5. doi: 10.1007/s10689-013-9666-3.

PMID:
23743562
17.

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.

18.

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
19.

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

Gimenez-Roqueplo AP, Dahia PL, Robledo M.

Horm Metab Res. 2012 May;44(5):328-33. doi: 10.1055/s-0031-1301302. Epub 2012 Feb 10. Review.

PMID:
22328163
20.

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

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