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Items: 1 to 50 of 73

1.

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.

Neumann HP, Young WF Jr, Krauss T, Bayley JP, Schiavi F, Opocher G, Boedeker CC, Tirosh A, Castinetti F, Ruf J, Beltsevich D, Walz M, Groeben HT, von Dobschuetz E, Gimm O, Wohllk N, Pfeifer M, Lourenço DM Jr, Peczkowska M, Patocs A, Ngeow J, Makay Ö, Shah NS, Tischler A, Leijon H, Pennelli G, Villar Gómez de Las Heras K, Links TP, Bausch B, Eng C.

Endocr Relat Cancer. 2018 Aug;25(8):T201-T219. doi: 10.1530/ERC-18-0085. Epub 2018 May 24. Review.

2.

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.

Krauss T, Ferrara AM, Links TP, Wellner U, Bancos I, Kvachenyuk A, Villar Gómez de Las Heras K, Yukina MY, Petrov R, Bullivant G, von Duecker L, Jadhav S, Ploeckinger U, Welin S, Schalin-Jäntti C, Gimm O, Pfeifer M, Ngeow J, Hasse-Lazar K, Sansó G, Qi X, Ugurlu MU, Diaz RE, Wohllk N, Peczkowska M, Aberle J, Lourenço DM Jr, Pereira MAA, Fragoso MCBV, Hoff AO, Almeida MQ, Violante AHD, Quidute ARP, Zhang Z, Recasens M, Díaz LR, Kunavisarut T, Wannachalee T, Sirinvaravong S, Jonasch E, Grozinsky-Glasberg S, Fraenkel M, Beltsevich D, Egorov VI, Bausch D, Schott M, Tiling N, Pennelli G, Zschiedrich S, Därr R, Ruf J, Denecke T, Link KH, Zovato S, von Dobschuetz E, Yaremchuk S, Amthauer H, Makay Ö, Patocs A, Walz MK, Huber TB, Seufert J, Hellman P, Kim RH, Kuchinskaya E, Schiavi F, Malinoc A, Reisch N, Jarzab B, Barontini M, Januszewicz A, Shah N, Young WF Jr, Opocher G, Eng C, Neumann HPH, Bausch B.

Endocr Relat Cancer. 2018 Sep;25(9):783-793. doi: 10.1530/ERC-18-0100. Epub 2018 May 10.

PMID:
29748190
3.

Gain-of-function mutations in DNMT3A in patients with paraganglioma.

Remacha L, Currás-Freixes M, Torres-Ruiz R, Schiavi F, Torres-Pérez R, Calsina B, Letón R, Comino-Méndez I, Roldán-Romero JM, Montero-Conde C, Santos M, Pérez LI, Pita G, Alonso MR, Honrado E, Pedrinaci S, Crespo-Facorro B, Percesepe A, Falcioni M, Rodríguez-Perales S, Korpershoek E, Ramón-Maiques S, Opocher G, Rodríguez-Antona C, Robledo M, Cascón A.

Genet Med. 2018 May 8. doi: 10.1038/s41436-018-0003-y. [Epub ahead of print]

PMID:
29740169
4.

Low hydrogen contents in the cores of terrestrial planets.

Clesi V, Bouhifd MA, Bolfan-Casanova N, Manthilake G, Schiavi F, Raepsaet C, Bureau H, Khodja H, Andrault D.

Sci Adv. 2018 Mar 14;4(3):e1701876. doi: 10.1126/sciadv.1701876. eCollection 2018 Mar.

5.

Correction to: Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.

Verginelli F, Perconti S, Vespa S, Schiavi F, Prasad SC, Lanuti P, Cama A, Tramontana L, Esposito DL, Guarnieri S, Sheu A, Pantalone MR, Florio R, Morgano A, Rossi C, Bologna G, Marchisio M, D'Argenio A, Taschin E, Visone R, Opocher G, Veronese A, Paties CT, Rajasekhar VK, Söderberg-Nauclér C, Sanna M, Lotti LV, Mariani-Costantini R.

Acta Neuropathol. 2018 May;135(5):799. doi: 10.1007/s00401-018-1811-5.

PMID:
29392445
6.

Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.

Verginelli F, Perconti S, Vespa S, Schiavi F, Prasad SC, Lanuti P, Cama A, Tramontana L, Esposito DL, Guarnieri S, Sheu A, Pantalone MR, Florio R, Morgano A, Rossi C, Bologna G, Marchisio M, D'Argenio A, Taschin E, Visone R, Opocher G, Veronese A, Paties CT, Rajasekhar VK, Söderberg-Nauclér C, Sanna M, Lotti LV, Mariani-Costantini R.

Acta Neuropathol. 2018 May;135(5):779-798. doi: 10.1007/s00401-017-1799-2. Epub 2018 Jan 5. Erratum in: Acta Neuropathol. 2018 Feb 1;:.

7.

Experimental evidence supporting a global melt layer at the base of the Earth's upper mantle.

Freitas D, Manthilake G, Schiavi F, Chantel J, Bolfan-Casanova N, Bouhifd MA, Andrault D.

Nat Commun. 2017 Dec 19;8(1):2186. doi: 10.1038/s41467-017-02275-9.

8.

A model for measuring the environmental sustainability of events.

Boggia A, Massei G, Paolotti L, Rocchi L, Schiavi F.

J Environ Manage. 2018 Jan 15;206:836-845. doi: 10.1016/j.jenvman.2017.11.057. Epub 2017 Dec 1.

PMID:
29197809
9.

Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma.

Ferrara AM, Lombardi G, Pambuku A, Meringolo D, Bertorelle R, Nardin M, Schiavi F, Iacobone M, Opocher G, Zagonel V, Zovato S.

Anticancer Drugs. 2018 Jan;29(1):102-105. doi: 10.1097/CAD.0000000000000570.

PMID:
29099418
10.

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.

11.

First steps to define murine amniotic fluid stem cell microenvironment.

Bertin E, Piccoli M, Franzin C, Spiro G, Donà S, Dedja A, Schiavi F, Taschin E, Bonaldo P, Braghetta P, De Coppi P, Pozzobon M.

Sci Rep. 2016 Nov 15;6:37080. doi: 10.1038/srep37080.

12.

Von Hippel-Lindau disease: an evaluation of natural history and functional disability.

Feletti A, Anglani M, Scarpa B, Schiavi F, Boaretto F, Zovato S, Taschin E, Gardi M, Zanoletti E, Piermarocchi S, Murgia A, Pavesi G, Opocher G.

Neuro Oncol. 2016 Jul;18(7):1011-20. doi: 10.1093/neuonc/nov313. Epub 2016 Jan 12.

13.

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.

Mulatero P, Schiavi F, Williams TA, Monticone S, Barbon G, Opocher G, Fallo F.

J Hum Hypertens. 2016 Jun;30(6):374-8. doi: 10.1038/jhh.2015.98. Epub 2015 Oct 8.

PMID:
26446392
14.

Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.

Cardaci S, Zheng L, MacKay G, van den Broek NJ, MacKenzie ED, Nixon C, Stevenson D, Tumanov S, Bulusu V, Kamphorst JJ, Vazquez A, Fleming S, Schiavi F, Kalna G, Blyth K, Strathdee D, Gottlieb E.

Nat Cell Biol. 2015 Oct;17(10):1317-26. doi: 10.1038/ncb3233. Epub 2015 Aug 24.

15.

Functional and in silico assessment of MAX variants of unknown significance.

Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA, Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V, Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A.

J Mol Med (Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun 14.

PMID:
26070438
16.

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

Bausch B, Wellner U, Peyre M, Boedeker CC, Hes FJ, Anglani M, de Campos JM, Kanno H, Maher ER, Krauss T, Sansó G, Barontini M, Letizia C, Hader C, Schiavi F, Zanoletti E, Suárez C, Offergeld C, Malinoc A, Zschiedrich S, Glasker S, Bobin S, Sterkers O, Ba Huy PT, Giraud S, Links T, Eng C, Opocher G, Richard S, Neumann HP; International Endolymphatic Sac Tumor (ELST) Consortium.

Head Neck. 2016 Apr;38 Suppl 1:E673-9. doi: 10.1002/hed.24067. Epub 2015 Jul 14.

PMID:
25867206
17.

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.

Mancikova V, Cruz R, Inglada-Pérez L, Fernández-Rozadilla C, Landa I, Cameselle-Teijeiro J, Celeiro C, Pastor S, Velázquez A, Marcos R, Andía V, Álvarez-Escolá C, Meoro A, Schiavi F, Opocher G, Quintela I, Ansede-Bermejo J, Ruiz-Ponte C, Santisteban P, Robledo M, Carracedo A.

Int J Cancer. 2015 Oct 15;137(8):1870-8. doi: 10.1002/ijc.29557. Epub 2015 Apr 22.

18.

DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers.

de Cubas AA, Korpershoek E, Inglada-Pérez L, Letouzé E, Currás-Freixes M, Fernández AF, Comino-Méndez I, Schiavi F, Mancikova V, Eisenhofer G, Mannelli M, Opocher G, Timmers H, Beuschlein F, de Krijger R, Cascon A, Rodríguez-Antona C, Fraga MF, Favier J, Gimenez-Roqueplo AP, Robledo M.

Clin Cancer Res. 2015 Jul 1;21(13):3020-30. doi: 10.1158/1078-0432.CCR-14-2804. Epub 2015 Mar 30.

19.

A registry-based study of thyroid paraganglioma: histological and genetic characteristics.

von Dobschuetz E, Leijon H, Schalin-Jäntti C, Schiavi F, Brauckhoff M, Peczkowska M, Spiazzi G, Demattè S, Cecchini ME, Sartorato P, Krajewska J, Hasse-Lazar K, Roszkowska-Purska K, Taschin E, Malinoc A, Akslen LA, Arola J, Lange D, Fassina A, Pennelli G, Barbareschi M, Luettges J, Prejbisz A, Januszewicz A, Strate T, Bausch B, Castinetti F, Jarzab B, Opocher G, Eng C, Neumann HP.

Endocr Relat Cancer. 2015 Apr;22(2):191-204. doi: 10.1530/ERC-14-0558. Epub 2015 Jan 16.

20.

Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.

Richter S, Peitzsch M, Rapizzi E, Lenders JW, Qin N, de Cubas AA, Schiavi F, Rao JU, Beuschlein F, Quinkler M, Timmers HJ, Opocher G, Mannelli M, Pacak K, Robledo M, Eisenhofer G.

J Clin Endocrinol Metab. 2014 Oct;99(10):3903-11. doi: 10.1210/jc.2014-2151. Epub 2014 Jul 11.

21.

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study.

Castinetti F, Qi XP, Walz MK, Maia AL, Sansó G, Peczkowska M, Hasse-Lazar K, Links TP, Dvorakova S, Toledo RA, Mian C, Bugalho MJ, Wohllk N, Kollyukh O, Canu L, Loli P, Bergmann SR, Biarnes Costa J, Makay O, Patocs A, Pfeifer M, Shah NS, Cuny T, Brauckhoff M, Bausch B, von Dobschuetz E, Letizia C, Barczynski M, Alevizaki MK, Czetwertynska M, Ugurlu MU, Valk G, Plukker JT, Sartorato P, Siqueira DR, Barontini M, Szperl M, Jarzab B, Verbeek HH, Zelinka T, Vlcek P, Toledo SP, Coutinho FL, Mannelli M, Recasens M, Demarquet L, Petramala L, Yaremchuk S, Zabolotnyi D, Schiavi F, Opocher G, Racz K, Januszewicz A, Weryha G, Henry JF, Brue T, Conte-Devolx B, Eng C, Neumann HP.

Lancet Oncol. 2014 May;15(6):648-55. doi: 10.1016/S1470-2045(14)70154-8. Epub 2014 Apr 15.

PMID:
24745698
22.

Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.

Kugelberg J, Welander J, Schiavi F, Fassina A, Bäckdahl M, Larsson C, Opocher G, Söderkvist P, Dahia PL, Neumann HP, Gimm O.

World J Surg. 2014 Mar;38(3):724-32. doi: 10.1007/s00268-013-2373-2.

PMID:
24322175
23.

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.

24.

An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

Landa I, Boullosa C, Inglada-Pérez L, Sastre-Perona A, Pastor S, Velázquez A, Mancikova V, Ruiz-Llorente S, Schiavi F, Marcos R, Malats N, Opocher G, Diaz-Uriarte R, Santisteban P, Valencia A, Robledo M.

PLoS One. 2013 Sep 23;8(9):e74765. doi: 10.1371/journal.pone.0074765. eCollection 2013. Erratum in: PLoS One. 2013;8(10). doi:10.1371/annotation/cd94c3eb-70f2-4dfa-85be-b3fc41e495c3.

25.

18F-DOPA PET/CT in the evaluation of hereditary SDH-deficiency paraganglioma-pheochromocytoma syndromes.

Marzola MC, Chondrogiannis S, Grassetto G, Rampin L, Maffione AM, Ferretti A, Opocher G, Schiavi F, Colletti PM, Rubello D.

Clin Nucl Med. 2014 Jan;39(1):e53-8. doi: 10.1097/RLU.0b013e31829aface.

PMID:
23856824
26.

Performance of the pediatric index of mortality 2 (PIM-2) in cardiac and mixed intensive care units in a tertiary children's referral hospital in Italy.

Ciofi degli Atti ML, Cuttini M, Ravà L, Rinaldi S, Brusco C, Cogo P, Pirozzi N, Picardo S, Schiavi F, Raponi M.

BMC Pediatr. 2013 Jun 25;13:100. doi: 10.1186/1471-2431-13-100.

27.

Parathyroid scintigraphy in renal hyperparathyroidism: the added diagnostic value of SPECT and SPECT/CT.

Taïeb D, Ureña-Torres P, Zanotti-Fregonara P, Rubello D, Ferretti A, Henter I, Henry JF, Schiavi F, Opocher G, Blickman JG, Colletti PM, Hindié E.

Clin Nucl Med. 2013 Aug;38(8):630-5. doi: 10.1097/RLU.0b013e31829af5bf. Review.

28.

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.

29.

Role of ultrasound and color Doppler imaging in the detection of carotid paragangliomas.

Demattè S, Di Sarra D, Schiavi F, Casadei A, Opocher G.

J Ultrasound. 2012 Sep;15(3):158-63. doi: 10.1016/j.jus.2012.05.001. Epub 2012 May 30.

30.

Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.

Maliszewska A, Leandro-Garcia LJ, Castelblanco E, Macià A, de Cubas A, Goméz-López G, Inglada-Pérez L, Álvarez-Escolá C, De la Vega L, Letón R, Gómez-Graña Á, Landa I, Cascón A, Rodríguez-Antona C, Borrego S, Zane M, Schiavi F, Merante-Boschin I, Pelizzo MR, Pisano DG, Opocher G, Matias-Guiu X, Encinas M, Robledo M.

Am J Pathol. 2013 Feb;182(2):350-62. doi: 10.1016/j.ajpath.2012.10.025. Epub 2012 Nov 28.

PMID:
23201134
31.

Peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATATE in individuals with neck or mediastinal paraganglioma (PGL).

Zovato S, Kumanova A, Demattè S, Sansovini M, Bodei L, Di Sarra D, Casagranda E, Severi S, Ambrosetti A, Schiavi F, Opocher G, Paganelli G.

Horm Metab Res. 2012 May;44(5):411-4. doi: 10.1055/s-0032-1311637. Epub 2012 May 7.

PMID:
22566197
32.

The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, Donner D, Barbareschi M, Manera V, Zovato S, Erlic Z, Savvoukidis T, Barollo S, Grego F, Trabalzini F, Amistà P, Grandi C, Branz F, Marroni F, Neumann HP, Opocher G.

J Clin Endocrinol Metab. 2012 Apr;97(4):E637-41. doi: 10.1210/jc.2011-2597. Epub 2012 Mar 28.

PMID:
22456618
33.

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M.

Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27.

34.

Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas?

Iacobone M, Schiavi F, Bottussi M, Taschin E, Bobisse S, Fassina A, Opocher G, Favia G.

Surgery. 2011 Dec;150(6):1194-201. doi: 10.1016/j.surg.2011.09.024.

PMID:
22136840
35.

Functional consequences of succinate dehydrogenase mutations.

Opocher G, Schiavi F.

Endocr Pract. 2011 Jul-Aug;17 Suppl 3:64-71. doi: 10.4158/EP11070.RA. Review.

PMID:
21742608
36.

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A.

Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861.

PMID:
21685915
37.

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL.

JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830.

PMID:
21156949
38.

Peptide receptor radionuclide therapy in a case of multiple spinal canal and cranial paragangliomas.

Cecchin D, Schiavi F, Fanti S, Favero M, Manara R, Fassina A, Briani C, Allegri V, Sansovini M, Bui F, Paganelli G, Opocher G.

J Clin Oncol. 2011 Mar 1;29(7):e171-4. doi: 10.1200/JCO.2010.31.7131. Epub 2010 Dec 13. No abstract available.

PMID:
21149655
39.

Genetics of pheochromocytomas and paragangliomas.

Opocher G, Schiavi F.

Best Pract Res Clin Endocrinol Metab. 2010 Dec;24(6):943-56. doi: 10.1016/j.beem.2010.05.001. Review.

PMID:
21115163
40.

Concurrent pheochromocytoma and cortical carcinoma of the adrenal gland.

Fassina A, Cappellesso R, Schiavi F, Fassan M.

J Surg Oncol. 2011 Jan 1;103(1):103-4. doi: 10.1002/jso.21759. No abstract available.

PMID:
21031430
41.

Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.

López-Jiménez E, Gómez-López G, Leandro-García LJ, Muñoz I, Schiavi F, Montero-Conde C, de Cubas AA, Ramires R, Landa I, Leskelä S, Maliszewska A, Inglada-Pérez L, de la Vega L, Rodríguez-Antona C, Letón R, Bernal C, de Campos JM, Diez-Tascón C, Fraga MF, Boullosa C, Pisano DG, Opocher G, Robledo M, Cascón A.

Mol Endocrinol. 2010 Dec;24(12):2382-91. doi: 10.1210/me.2010-0256. Epub 2010 Oct 27.

42.

Are we overestimating the penetrance of mutations in SDHB?

Schiavi F, Milne RL, Anda E, Blay P, Castellano M, Opocher G, Robledo M, Cascón A.

Hum Mutat. 2010 Jun;31(6):761-2. doi: 10.1002/humu.21269. No abstract available.

PMID:
20513144
43.

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL.

Nat Genet. 2010 Mar;42(3):229-33. doi: 10.1038/ng.533. Epub 2010 Feb 14.

44.

The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.

Landa I, Ruiz-Llorente S, Montero-Conde C, Inglada-Pérez L, Schiavi F, Leskelä S, Pita G, Milne R, Maravall J, Ramos I, Andía V, Rodríguez-Poyo P, Jara-Albarrán A, Meoro A, del Peso C, Arribas L, Iglesias P, Caballero J, Serrano J, Picó A, Pomares F, Giménez G, López-Mondéjar P, Castello R, Merante-Boschin I, Pelizzo MR, Mauricio D, Opocher G, Rodríguez-Antona C, González-Neira A, Matías-Guiu X, Santisteban P, Robledo M.

PLoS Genet. 2009 Sep;5(9):e1000637. doi: 10.1371/journal.pgen.1000637. Epub 2009 Sep 4.

45.

Genetics of adrenal tumors.

Opocher G, Schiavi F, Cicala MV, Patalano A, Mariniello B, Boaretto F, Zovato S, Pignataro V, Macino B, Negro I, Mantero F.

Minerva Endocrinol. 2009 Jun;34(2):107-21. Review.

PMID:
19471236
46.

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.

47.

The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome.

Opocher G, Boaretto F, Pignataro V, Demattè S, Cecchini ME, Erlic Z, Schiavi F.

Ann Endocrinol (Paris). 2009 Jun;70(3):157-60. doi: 10.1016/j.ando.2009.02.007. Epub 2009 Mar 14. No abstract available.

PMID:
19286157
48.

Surgical versus conservative management for subclinical Cushing syndrome in adrenal incidentalomas: a prospective randomized study.

Toniato A, Merante-Boschin I, Opocher G, Pelizzo MR, Schiavi F, Ballotta E.

Ann Surg. 2009 Mar;249(3):388-91. doi: 10.1097/SLA.0b013e31819a47d2.

PMID:
19247023
49.

Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.

Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, Pignataro V, Bernini G, Giachè V, Bacca A, Biondi B, Corona G, Di Trapani G, Grossrubatscher E, Reimondo G, Arnaldi G, Giacchetti G, Veglio F, Loli P, Colao A, Ambrosio MR, Terzolo M, Letizia C, Ercolino T, Opocher G; Italian Pheochromocytoma/Paraganglioma Network.

J Clin Endocrinol Metab. 2009 May;94(5):1541-7. doi: 10.1210/jc.2008-2419. Epub 2009 Feb 17.

50.

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group.

J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. Epub 2007 Apr 10.

PMID:
17426081

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