Works matching Multiple endocrine neoplasia type 2 (MEN 2)

Results: 88

The Gene Causing Multiple Endocrine Neoplasia Type 2 (MEN 2).

Published in:

Annals of Medicine, 1994, v. 26, n. 3, p. 199, doi. 10.3109/07853899409147890

By:

Ponder, B. A. J.

Publication type:

Article

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

Published in:

European Journal of Endocrinology, 2010, v. 163, n. 2, p. 301, doi. 10.1530/EJE-10-0333

By:

Cristina Romei

Publication type:

Article

Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) - case report.

Published in:

Annals of Agricultural & Environmental Medicine, 2024, v. 31, n. 2, p. 302, doi. 10.26444/aaem/171736

By:

Rycyk-Bojarzyńska, Anna;
Kasztelan-Szczerbińska, Beata;
Cichoż-Lach, Halina;
Jargieło, Anna

Publication type:

Article

DNA Testing for More Sophisticated Clinical Management of Multiple Endocrine Neoplasia Type 2 (Men 2).

Published in:

Japanese Journal of Clinical Oncology, 1998, v. 28, n. 10, p. 588, doi. 10.1093/jjco/28.10.588

By:

Futami, Hitoyasu

Publication type:

Article

Evaluation of potential mechanisms underlying genotype–phenotype correlations in multiple endocrine neoplasia type 2.

Published in:

Oncogene, 2006, v. 25, n. 50, p. 6637, doi. 10.1038/sj.onc.1209669

By:

Miše, N.;
Drosten, M.;
Racek, T.;
Tannapfel, A.;
Pützer, B. M.

Publication type:

Article

Elevated Calcitonin Levels in a Patient With a Pheochromocytoma: A Case Report.

Published in:

American Surgeon, 2023, v. 89, n. 12, p. 6227, doi. 10.1177/00031348221117035

By:

Shihabi, Areej;
Issa, Peter P.;
Cironi, Katherine;
Omar, Mahmoud;
Abdelgawad, Mohamed;
Kandil, Emad

Publication type:

Article

Transcription Association of VHL and SDH Mutations Link Hypoxia and Oxidoreductase Signals in Pheochromocytomas.

Published in:

Annals of the New York Academy of Sciences, 2006, v. 1073, n. 1, p. 208, doi. 10.1196/annals.1353.023

By:

DAHIA, PATRICIA L. M.

Publication type:

Article

Anesthetic Management of Clinically Silent Familial Pheochromocytoma with MEN 2A: A Report of Four Cases.

Published in:

Indian Journal of Surgery, 2016, v. 78, n. 5, p. 414, doi. 10.1007/s12262-016-1539-1

By:

Aggarwal, Shipra;
Talwar, Vandana;
Virmani, Pooja;
Kale, Suniti

Publication type:

Article

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease.

Published in:

2001

By:

Frenzel, Sabine;
Apel, Thomas W.;
Heidemann, Peter H.;
Zerres, Klaus;
Neumann, Hartmut P. H.;
Dörr, Helmuth G.;
Frenzel, S;
Apel, T W;
Heidemann, P H;
Zerres, K;
Neumann, H P;
Dörr, H G

Publication type:

journal article

Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.764512

By:

Hansen, Anna Reimer;
Borgwardt, Line;
Rasmussen, Åse Krogh;
Godballe, Christian;
Poulsen, Morten Møller;
Vieira, Filipe G.;
Mathiesen, Jes Sloth;
Rossing, Maria

Publication type:

Article

Medullary Thyroid Carcinoma in a Patient with MEN 1 Syndrome. Case Report and Literature Review.

Published in:

OncoTargets & Therapy, 2020, v. 13, p. 7599, doi. 10.2147/OTT.S259656

By:

Friziero, Alberto;
Dalt, Gianfranco Da;
Piotto, Andrea;
Serafini, Simone;
Grego, Andrea;
Galuppini, Francesca;
Pennelli, Gianmaria;
Sperti, Cosimo

Publication type:

Article

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 8, p. 457, doi. 10.1038/sj.ejhg.5200829

By:

A. Cascon;
Ruiz-Llorente, S.

Publication type:

Article

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in the RET Protooncogene and MEN1 Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 7, p. 4063, doi. 10.1210/jc.2004-1759

By:

Frank-Raue, Karin;
Rondot, Susanne;
Hoeppner, Wolfgang;
Goretzki, Peter;
Raue, Friedhelm;
Meng, Wieland

Publication type:

Article

Differential Expression of Erythropoietin and Its Receptor in von Hippel-Lindau-Associated and Multiple Endocrine Neoplasia Type 2-Associated Pheochromocytomas.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3747, doi. 10.1210/jc.2004-1899

By:

Vogel, Timothy W. A.;
Brouwers, Frederieke M.;
Lubensky, Irina A.;
Vortmeyer, Alexander O.;
Weil, Robert J.;
Walther, McClellan M.;
Oldfield, Edward H.;
Linehan, W. Marston;
Pacak, Karel;
Zhengping Zhuang

Publication type:

Article

Amplification and Overexpression of Mutant RET in Multiple Endocrine Neoplasia Type 2-Associated Medullary Thyroid Carcinoma.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 1, p. 459, doi. 10.1210/jc.2002-021254

By:

HUANG, STEVE C.;
TORRES-CRUZ, JOSHUA;
PACK, SVETLANA D.;
KOCH, CHRISTIAN A.;
VORTMEYER, ALEXANDER O.;
MANNAN, POONAM;
LUBENSKY, IRINA A.;
GAGEL, ROBERT F.;
ZHENGPING ZHUANG

Publication type:

Article

A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma.

Published in:

2002

By:

Nunes, Adriana B.;
Ezabella, Marilza C. L.;
Pereira, Alexandre C.;
Krieger, José E.;
Toledo, Sergio P. A.

Publication type:

journal article

Pheochromocytomas in von Hippel-Lindau Syndrome and Multiple Endocrine Neoplasia Type 2 Display Distinct Biochemical and Clinical Phenotypes.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 5, p. 1999, doi. 10.1210/jcem.86.5.7496

By:

EISENHOFER, GRAEME;
WALTHER, MC CLELLAN M.;
THANH-TRUC HUYNH;
SHENG-TING LI;
BORNSTEIN, STEFAN R.;
VORTMEYER, ALEXANDER;
MANNELLI, MASSIMO;
GOLDSTEIN, DAVID S.;
LINEHAN, W. MARSTON;
LENDERS, JACQUES W. M.;
PACAK, KAREL

Publication type:

Article

Differential Genetic Alterations in von Hippel-Lindau Syndrome-Associated and Sporadic Pheochromocytomas.

Published in:

2000

By:

BENDER, BERNHARD U.;
GUTSCHE, MARKUS;
GLÄSKER, SVEN;
MÜLLER, BARBARA;
KIRSTE, GÜNTER;
ENG, CHARIS;
NEUMANN, HARTMUT P. H.

Publication type:

journal article

Tyrosines 1015 and 1062 Are in Vivo Autophosphorylation Sites in Ret and Ret-Derived Oncoproteins.

Published in:

2000

By:

SALVATORE, DOMENICO;
BARONE, MARIA VITTORIA;
SALVATORE, GIULIANA;
MELILLO, ROSA MARINA;
CHIAPPETTA, GENNARO;
MINEO, ALBA;
FENZI, GIANFRANCO;
VECCHIO, GIANCARLO;
FUSCO, ALFREDO;
SANTORO, MASSIMO

Publication type:

journal article

A Novel Case of Multiple Endocrine Neoplasia Type 2A Associated with Two de Novo Mutations of the RET Protooncogene.

Published in:

1999

By:

TESSITORE, ALESSANDRA;
SINISI, ANTONIO A.;
PASQUALI, DANIELA;
CARDONE, MONICA;
VITALE, DOMENICO;
BELLASTELLA, ANTONIO;
COLANTUONI, VITTORIO

Publication type:

journal article

Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine.

Published in:

1998

By:

SCHUFFENECKER, IISABELLE;
VIRALLY-MONOD, MARIE;
BROHET, RICHARD;
GOLDGAR, DAVID;
CONTE-DEVOLX, BERNARD;
LECLERC, LAURENCE;
CHABRE, OLIVIER;
BONEU, ANDREE;
CARON, JEAN;
HOUDENT, CHANTAL;
MODIGLIANI, ELISABETH;
ROHMER, VINCENT;
SCHLUMBERGER, MARTIN;
ENG, CHARIS;
GUILLAUSSEAU, PIERRE JEAN;
LENOIR, GILBERT MARCEL

Publication type:

journal article

Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene.

Published in:

1997

By:

Brauch, H;
Hoeppner, W;
Jähnig, H;
Wöhl, T;
Engelhardt, D;
Spelsberg, F;
Ritter, M M

Publication type:

journal article

Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.

Published in:

1997

By:

Gimm, O;
Marsh, D J;
Andrew, S D;
Frilling, A;
Dahia, P L;
Mulligan, L M;
Zajac, J D;
Robinson, B G;
Eng, C

Publication type:

journal article

Omeprazole: Calcitonin Stimulation Test for the Diagnosis Follow-Up and Family Screening in Medullary Thyroid Carcinoma.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 3, p. 897, doi. 10.1210/jc.82.3.897

By:

ERDOĞAN, MURAT FAIK;
GÜLLÜ, SEVIM;
BAŞKAL, NILGÜN;
UYSAL, ALI RIZA;
KAMEL, NURI;
ERDOĞAN, GÜRBÜZ

Publication type:

Article

Surgical treatment of medullary thyroid carcinoma.

Published in:

2003

By:

Cohen, M. S.;
Moley, J. F.

Publication type:

journal article

Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations.

Published in:

2001

By:

Loré, F.;
Talidis, F.;
Di Cairano, G.;
Renieri, A.;
Loré, F

Publication type:

journal article

Determination of the risk for familial disease in RET mutation-negative patients with medullary thyroid cancer.

Published in:

1998

By:

Tang;
Yeung;
Cockram;
Pang;
Tang, Nelson L.S.;
Tang, N L;
Yeung, V T;
Cockram, C S;
Pang, C P

Publication type:

Letter

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

Published in:

1998

By:

Romeo;
Ceccherini;
Celli;
Priolo;
Betsos;
Bonardi;
Seri;
Yin;
Lerone;
Jasonni;
Martucciello;
Romeo;
Romeo, G;
Ceccherini, I;
Celli, J;
Priolo, M;
Betsos, N;
Bonardi, G;
Seri, M;
Yin, L

Publication type:

journal article

Penetrance and Clinical Manifestations of Non-Hotspot Germline RET Mutation, C630R, in a Family with Medullary Thyroid Carcinoma.

Published in:

Thyroid, 2005, v. 15, n. 7, p. 668

By:

Dourisboure, R.J.;
Belli, S.;
Domenichini, E.;
Podest, E.J.;
Eng, C.;
Solano, A.R.

Publication type:

Article

High Prevalence of c-RET Expression in Papillary Thyroid Carcinomas from the Korean Population.

Published in:

Thyroid, 2005, v. 15, n. 3, p. 259

By:

Sihoon Lee;
Soon Won Hong;
Woo Chul Moon;
Myung Ryurl Oh;
Jin Kyung Lee;
Chul Woo Ahn;
Bong Soo Cha;
Kyung Rae Kim;
Hyun Chul Lee;
Sung-Kil Lim

Publication type:

Article

Papillary Thyroid Carcinoma, Parathyroid Adenoma, and Unexplained Hypercalcitoninemia: An Unusual Presentation of Multiple Endocrine Neoplasia Type 2A?

Published in:

Thyroid, 1998, v. 8, n. 9, p. 781, doi. 10.1089/thy.1998.8.781

By:

RONE, JAMES K.;
LANE, ALEXIS G.;
GRINKEMEYER, MICHAEL D.

Publication type:

Article

Genetic Testing and Early Thyroidectomy for Inherited Medullary Thyroid Carcinoma.

Published in:

Annals of Medicine, 1996, v. 28, n. 5, p. 401, doi. 10.3109/07853899608999099

By:

Lairmore, Terry C.;
Frisella, Margaret M.;
Wells, Samuel A.

Publication type:

Article

High prevalence of exon 8 G533 C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

Published in:

Clinical Endocrinology, 2012, v. 77, n. 6, p. 857, doi. 10.1111/j.1365-2265.2012.04462.x

By:

Sarika, H. L.;
Papathoma, A.;
Garofalaki, M.;
Vasileiou, V.;
Vlassopoulou, B.;
Anastasiou, E.;
Alevizaki, M.

Publication type:

Article

MEDULLARY THYROID CARCINOMA WITH NORMAL CALCITONIN SERUM LEVELS.

Published in:

Acta Medica Marisiensis, 2019, v. 65, p. 110

By:

Oana-Adriana, Matei;
Alina-Cristina, Muntean;
Reti Zsuzsanna, Medical Doctor

Publication type:

Article

Urinary free (unconjugated) metadrenalines in different hereditary forms of catecholamine-secreting phaeochromocytoma/paraganglioma.

Published in:

Annals of Clinical Biochemistry, 2012, v. 49, n. 5, p. 486, doi. 10.1258/acb.2012.012021

By:

Davidson, D. Fraser;
Bradshaw, Nicola;
Perry, Colin G.;
Lindsay, Robert;
Freel, E. Marie

Publication type:

Article

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 1, doi. 10.1111/j.1399-0004.2010.01453.x

By:

Mukherjee, S.;
Zakalik, D.

Publication type:

Article

Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers.

Published in:

2002

By:

Sanso, Gabriela E.;
Domene, Horacio M.;
Garcia Rudaz, Maria C.;
Pusiol, Eduardo;
de Mondino, Ana K.;
Roque, Maria;
Ring, Alejandro;
Perinetti, Hector;
Elsner, Boris;
Iorcansky, Sonia;
Barontini, Marta;
Garcia, RudazMariaC;
de, MondinoAnaK

Publication type:

journal article

Medullary thyroid carcinoma: surgical treatment advances.

Published in:

Expert Review of Anticancer Therapy, 2007, v. 7, n. 6, p. 877, doi. 10.1586/14737140.7.6.877

By:

Dionigi, Gianlorenzo;
Bianchi, Veronica;
Rovera, Francesca;
Boni, Luigi;
Piantanida, Eliana;
Tanda, Maria Laura;
Dionigi, Renzo;
Bartalena, Luigi

Publication type:

Article

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.

Published in:

European Journal of Endocrinology, 2009, v. 160, n. 5, p. 807, doi. 10.1530/EJE-08-0854

By:

Zenaty, D

Publication type:

Article

Different expression of catecholamine transporters in phaeochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2.

Published in:

European Journal of Endocrinology, 2005, v. 153, n. 4, p. 551, doi. 10.1530/eje.1.01987

By:

Thanh-Truc Huynh

Publication type:

Article

Germline mutation of RET codon 883 in two cases of de novo MEN 2B.

Published in:

Oncogene, 1997, v. 15, n. 10, p. 1213, doi. 10.1038/sj.onc.1201481

By:

Smith, Darrin P;
Houghton, Carol;
Ponder, Bruce AJ

Publication type:

Article

Genetic Predisposition to Phaeochromocytoma: Analysis of Candidate Genes GDNF, RET and VHL.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1051, doi. 10.1093/hmg/6.7.1051

By:

Woodward, Emma R.;
Eng, Charis;
McMahon, Rob;
Voutilainen, Raimo;
Affara, Nabeel A.;
Ponder, Bruce A. J.;
Maher, Eamonn R.

Publication type:

Article

Haplotype analysis of MEN 2 mutations.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1771

By:

Gardner, Emily;
Mulligan, Lois M.;
Eng, Charis;
Healey, Catherine S.;
Kwok, John B.J.;
Ponder, Margaret A.;
Ponder, Bruce A.J.

Publication type:

Article

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 237

By:

Eng, Charis;
SmIth, Darrin P.;
MullIgan, Lois M.;
Nagal, Maria A.;
Healey, Catherine S.;
Ponder, Margaret A.;
Gardner, Emily;
Scheumann, Georg F.W.;
Jackson, CharIes E.;
Tunnacllffe, Alan;
Ponder, Bruce A.J.

Publication type:

Article

Confocal Scan Imaging and Impression Cytology of the Cornea in a Case of Multiple Endocrine Neoplasia Type-2b.

Published in:

2012

By:

Javadi, Mohammad-Ali;
Kanavi, Mozhgan Rezaei;
Faramarzi, Amir;
Feizi, Sepehr;
Azizi, Fereidoun;
Javadi, Fatemeh

Publication type:

Case Study

Thrombotic Microangiopathy After Spontaneous Pheochromocytoma Rupture: A Rare MEN 2A Case.

Published in:

Turkish Journal of Endocrinology & Metabolism, 2020, v. 24, n. 3, p. 247, doi. 10.25179/tjem.2020-74367

By:

ÇORDAN, İlker;
KOCABAŞ, Muhammet;
YILMAZ, Seda;
CAN, Mustafa;
KARAKÖSE, Melia;
ÇALIŞKAN BURGUCU, Hatice;
KULAKSIZOĞLU, Mustafa;
KARAKURT, Feridun

Publication type:

Article

CR56 Metastatic thyroid cancer after thyroidectomy in patient with MEN2A syndrome: a case report.

Published in:

Lijecnicki Vjesnik, 2023, v. 145, p. 74, doi. 10.26800/LV-145-supl2-CR56

By:

Čala, Ana;
Dušek, Tina

Publication type:

Article

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and...

Published in:

Nature, 1994, v. 367, n. 6461, p. 375, doi. 10.1038/367375a0

By:

Hofstra, Robert M.W.;
Landsvater, Rudy M.

Publication type:

Article

Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma.

Published in:

Oncogene, 2002, v. 21, n. 3, p. 479, doi. 10.1038/sj.onc.1205133

By:

Koch, Christian A.;
Huang, Steve C.;
Zhengping Zhuang;
Stolle, Catherine;
Azumi, Norio;
Chrousos, George P.;
Vortmeyer, Alexander O.;
Pacak, Karel

Publication type:

Article

Allelic imbalance of the mutant and wild-type RET allele in MEN 2A-associated medullary thyroid carcinoma.

Published in:

Oncogene, 2001, v. 20, n. 53, p. 7809, doi. 10.1038/sj.onc.1204991

By:

Koch, Christian A;
Huang, Steve C;
Moley, Jeffrey F;
Azumi, Norio;
Chrousos, George P;
Gagel, Robert F;
Zhuang, Zhengping;
Pacak, Karel;
Vortmeyer, Alexander O

Publication type:

Article