Terms: = Germ cell tumor AND TMEM127, FLJ20507, 55654, ENSG00000135956, O75204, FLJ22257 AND Diagnosis
30 results:
1. Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases.
Araujo PB; Carvallo MS; Vidal AP; Nascimento JB; Wo JM; Naliato EO; Cunha Neto SH; Conceição FL; Fontes R; de Lima VV; Carvalho DP; Soares P; Lima J; Lourenço DM; Violante AHD
Front Endocrinol (Lausanne); 2022; 13():903085. PubMed ID: 36187102
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2. Genetics of pheochromocytoma and paraganglioma.
Wachtel H; Fishbein L
Curr Opin Endocrinol Diabetes Obes; 2021 Jun; 28(3):283-290. PubMed ID: 33764930
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3. Recent Advances in Histopathological and Molecular diagnosis in Pheochromocytoma and Paraganglioma: Challenges for Predicting Metastasis in Individual Patients.
Yamazaki Y; Gao X; Pecori A; Nakamura Y; Tezuka Y; Omata K; Ono Y; Morimoto R; Satoh F; Sasano H
Front Endocrinol (Lausanne); 2020; 11():587769. PubMed ID: 33193100
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4. A Novel MAX Gene Mutation Variant in a Patient With Multiple and "Composite" Neuroendocrine-Neuroblastic tumors.
Pozza C; Sesti F; Di Dato C; Sbardella E; Pofi R; Schiavi F; Bonifacio V; Isidori AM; Faggiano A; Lenzi A; Giannetta E
Front Endocrinol (Lausanne); 2020; 11():234. PubMed ID: 32508744
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5. [Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].
Vermalle M; Tabarin A; Castinetti F
Ann Endocrinol (Paris); 2018 Sep; 79 Suppl 1():S10-S21. PubMed ID: 30213301
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6. Frequency of germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
Panou V; Gadiraju M; Wolin A; Weipert CM; Skarda E; Husain AN; Patel JD; Rose B; Zhang SR; Weatherly M; Nelakuditi V; Knight Johnson A; Helgeson M; Fischer D; Desai A; Sulai N; Ritterhouse L; Røe OD; Turaga KK; Huo D; Segal J; Kadri S; Li Z; Kindler HL; Churpek JE
J Clin Oncol; 2018 Oct; 36(28):2863-2871. PubMed ID: 30113886
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7. 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. PubMed ID: 28477304
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8. 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;
JAMA Oncol; 2017 Sep; 3(9):1204-1212. PubMed ID: 28384794
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9. Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.
Murakoshi M; Takasawa K; Nishioka M; Asakawa M; Kashimada K; Yoshimoto T; Yamamoto T; Takekoshi K; Ogawa Y; Shimohira M
Am J Med Genet A; 2017 Feb; 173(2):495-500. PubMed ID: 27774766
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10. [Hereditary phaeochromocytoma in twins].
Tóth G; Patócs A; Tóth M
Orv Hetil; 2016 Aug; 157(33):1326-30. PubMed ID: 27523316
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11. A novel RET gene mutation in a patient with apparently sporadic pheochromocytoma.
Scollo C; Russo M; De Gregorio L; Terranova R; Mangione E; Castoro C; Squatrito S; Pellegriti G
Endocr J; 2016; 63(1):87-91. PubMed ID: 26497911
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12. germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.
Zhu WD; Wang ZY; Chai YC; Wang XW; Chen DY; Wu H
Eur J Med Genet; 2015 Sep; 58(9):433-8. PubMed ID: 26096992
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13. Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis.
Bugalho MJ; Silva AL; Domingues R
Fam Cancer; 2015 Dec; 14(4):603-7. PubMed ID: 26071763
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14. 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. PubMed ID: 25595276
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15. Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline tmem127 mutation.
Toledo SP; Lourenço DM; Sekiya T; Lucon AM; Baena ME; Castro CC; Bortolotto LA; Zerbini MC; Siqueira SA; Toledo RA; Dahia PL
J Clin Endocrinol Metab; 2015 Feb; 100(2):E308-18. PubMed ID: 25389632
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16. Role of 18F-DOPA PET/CT in diagnosis and follow-up of adrenal and extra-adrenal paragangliomas.
Bacca A; Chiacchio S; Zampa V; Carrara D; Duce V; Congregati C; Simi P; Taddei S; Materazzi G; Volterrani D; Mariani G; Bernini G
Clin Nucl Med; 2014 Jan; 39(1):14-20. PubMed ID: 24300347
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17. 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; 2014 Feb; 21(1):17-25. PubMed ID: 24169644
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18. Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
McInerney-Leo AM; Marshall MS; Gardiner B; Benn DE; McFarlane J; Robinson BG; Brown MA; Leo PJ; Clifton-Bligh RJ; Duncan EL
Clin Endocrinol (Oxf); 2014 Jan; 80(1):25-33. PubMed ID: 24102379
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19. Sinonasal paraganglioma with long-delayed recurrence and metastases: genetic and imaging findings.
Michel J; Taïeb D; Jolibert M; Torrents J; Wassef M; Morange I; Essamet W; Barlier A; Dessi P; Fakhry N
J Clin Endocrinol Metab; 2013 Nov; 98(11):4262-6. PubMed ID: 24030938
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20. 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. PubMed ID: 23666964
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