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Items: 1 to 20 of 129

1.

Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.

Yang C, Zhuang Z, Fliedner SM, Shankavaram U, Sun MG, Bullova P, Zhu R, Elkahloun AG, Kourlas PJ, Merino M, Kebebew E, Pacak K.

J Mol Med (Berl). 2015 Jan;93(1):93-104. doi: 10.1007/s00109-014-1205-7. Epub 2014 Sep 30.

PMID:
25263965
2.

The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2.

Thosani S, Ayala-Ramirez M, Palmer L, Hu MI, Rich T, Gagel RF, Cote G, Waguespack SG, Habra MA, Jimenez C.

J Clin Endocrinol Metab. 2013 Nov;98(11):E1813-9. doi: 10.1210/jc.2013-1653. Epub 2013 Sep 12.

3.

Cabozantinib in progressive medullary thyroid cancer.

Elisei R, Schlumberger MJ, Müller SP, Schöffski P, Brose MS, Shah MH, Licitra L, Jarzab B, Medvedev V, Kreissl MC, Niederle B, Cohen EE, Wirth LJ, Ali H, Hessel C, Yaron Y, Ball D, Nelkin B, Sherman SI.

J Clin Oncol. 2013 Oct 10;31(29):3639-46. doi: 10.1200/JCO.2012.48.4659. Epub 2013 Sep 3. Erratum in: J Clin Oncol. 2014 Jun 10;32(17):1864.

4.

Multiple endocrine neoplasia syndromes associated with mutation of p27.

Lee M, Pellegata NS.

J Endocrinol Invest. 2013 Oct;36(9):781-7. doi: 10.3275/9021. Epub 2013 Jun 26. Review.

PMID:
23800691
5.

Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

Wells SA Jr, Pacini F, Robinson BG, Santoro M.

J Clin Endocrinol Metab. 2013 Aug;98(8):3149-64. doi: 10.1210/jc.2013-1204. Epub 2013 Jun 6. Review.

6.

First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

Taïeb D, Yang C, Delenne B, Zhuang Z, Barlier A, Sebag F, Pacak K.

J Clin Endocrinol Metab. 2013 May;98(5):E908-13. doi: 10.1210/jc.2013-1217. Epub 2013 Mar 28.

7.

Ponatinib (AP24534) is a novel potent inhibitor of oncogenic RET mutants associated with thyroid cancer.

De Falco V, Buonocore P, Muthu M, Torregrossa L, Basolo F, Billaud M, Gozgit JM, Carlomagno F, Santoro M.

J Clin Endocrinol Metab. 2013 May;98(5):E811-9. doi: 10.1210/jc.2012-2672. Epub 2013 Mar 22.

PMID:
23526464
8.

Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

Fishbein L, Merrill S, Fraker DL, Cohen DL, Nathanson KL.

Ann Surg Oncol. 2013 May;20(5):1444-50. doi: 10.1245/s10434-013-2942-5. Epub 2013 Mar 20.

9.

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

Lorenzo FR, Yang C, Ng Tang Fui M, Vankayalapati H, Zhuang Z, Huynh T, Grossmann M, Pacak K, Prchal JT.

J Mol Med (Berl). 2013 Apr;91(4):507-12. doi: 10.1007/s00109-012-0967-z. Epub 2012 Oct 23.

10.

Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form.

Figlioli G, Landi S, Romei C, Elisei R, Gemignani F.

Mutat Res. 2013 Jan-Mar;752(1):36-44. doi: 10.1016/j.mrrev.2012.09.002. Epub 2012 Oct 8. Review.

PMID:
23059849
11.

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2012 Dec 15;21(26):5397-405. doi: 10.1093/hmg/dds374. Epub 2012 Sep 6.

PMID:
22962301
12.

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.

13.

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

Abermil N, Guillaud-Bataille M, Burnichon N, Venisse A, Manivet P, Guignat L, Drui D, Chupin M, Josseaume C, Affres H, Plouin PF, Bertherat J, Jeunemaître X, Gimenez-Roqueplo AP.

J Clin Endocrinol Metab. 2012 May;97(5):E805-9. doi: 10.1210/jc.2011-3360. Epub 2012 Mar 14.

PMID:
22419703
14.

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

Welander J, Söderkvist P, Gimm O.

Endocr Relat Cancer. 2011 Dec 1;18(6):R253-76. doi: 10.1530/ERC-11-0170. Print 2011 Dec. Review.

PMID:
22041710
15.

SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.

Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de Herder WW, Tissier F, Plouin PF, van Nederveen FH, Dinjens WN, Gimenez-Roqueplo AP, de Krijger RR.

J Clin Endocrinol Metab. 2011 Sep;96(9):E1472-6. doi: 10.1210/jc.2011-1043. Epub 2011 Jul 13.

PMID:
21752896
16.

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
17.

Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.

Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C.

J Clin Endocrinol Metab. 2011 Aug;96(8):E1279-82. doi: 10.1210/jc.2011-0114. Epub 2011 May 25.

PMID:
21613359
18.

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
19.

Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.

Vandy FC, Sisk G, Berguer R.

J Vasc Surg. 2011 Mar;53(3):805-7. doi: 10.1016/j.jvs.2010.09.064. Epub 2010 Nov 23.

20.

Phase II study of daily sunitinib in FDG-PET-positive, iodine-refractory differentiated thyroid cancer and metastatic medullary carcinoma of the thyroid with functional imaging correlation.

Carr LL, Mankoff DA, Goulart BH, Eaton KD, Capell PT, Kell EM, Bauman JE, Martins RG.

Clin Cancer Res. 2010 Nov 1;16(21):5260-8. doi: 10.1158/1078-0432.CCR-10-0994. Epub 2010 Sep 16.

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