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Nilesh Lomte, Tushar Bandgar, Shruti Khare, Swati Jadhav, Anurag Lila, Manjunath Goroshi, Rajeev Kasaliwal, Kranti Khadilkar, and Nalini S Shah

cases ( von Hippel–Lindau syndrome (VHL) : 2 and multiple endocrine neoplasia 2A (MEN2A): 1) were detected on familial screening, and 2 cases were incidentally found. Most patients ( n =21, 75%) had syndromic/familial associations while 7 were

Open access

Irfan Vardarli, Manuel Weber, Frank Weidemann, Dagmar Führer, Ken Herrmann, and Rainer Görges

type 2 multiple endocrine neoplasia (MEN) syndromes, MEN2A and MEN2B, and the related syndrome, familial MTC (FMTC) ( 2 ). Serum Ctn levels may be increased in patients with autoimmune thyroiditis, several extrathyroidal tumors like various enteric and

Open access

E T Aristizabal Prada and C J Auernhammer

inhibited SCLC growth in vivo and in vitro after chemotherapy ( 146 ). In the multiple endocrine neoplasia type 1 (MEN1) tumour syndrome, an enhanced Hh signalling causes proliferation of pancreatic beta cells and susceptibility to pancreatic islet

Open access

Henrik Falhammar, Magnus Kjellman, and Jan Calissendorff

last 15 years. Moreover, individuals are also nowadays found in the family screening for genetic syndromes that are associated with catecholamine producing tumors (e.g. multiple endocrine neoplasia type 2, Von Hippel Lindau syndrome, neurofibromatosis

Open access

Anna-Pauliina Iivonen, Johanna Känsäkoski, Atte Karppinen, Leena Kivipelto, Camilla Schalin-Jäntti, Auli Karhu, and Taneli Raivio

Vierimaa O Mäkinen MJ Tuppurainen K Paschke R , et al . Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia . Journal of Clinical Endocrinology and Metabolism 2007 92 3321 – 3325 . ( ) 10.1210/jc

Open access

Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman, and Peyman Björklund

Z Hoffmann MM Sullivan M Franke G Peczkowska M Harsch I Schott M Gabbert HE Valimaki M Preuss SF . Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel–Lindau syndrome

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Yang Lv, Ning Pu, Wei-lin Mao, Wen-qi Chen, Huan-yu Wang, Xu Han, Yuan Ji, Lei Zhang, Da-yong Jin, Wen-Hui Lou, and Xue-feng Xu

Zhongshan Hospital of Fudan University in China. Patients who had previous or concomitant history of other malignant tumor or documented hereditary syndromes like multiple endocrine neoplasia type 1 (MEN-1) were excluded. Institutional review board approval

Open access

Samira M Sadowski, Emanuel Christ, Benoit Bédat, Attila Kollár, Wolfram Karenovics, Aurel Perren, Frédéric Triponez, and on behalf of the SwissNET registry

Cushing’s syndrome and the others had TC syndrome), with an additional patient with multiple endocrine neoplasia type 1 (MEN1). The mean interval between symptoms and diagnosis was 6 ± 9.9 months. Overall, the follow-up time was 30.2 ± 23.1 months, ranging

Open access

Aleksandra Kukulska, Jolanta Krajewska, Zofia Kolosza, Ewa Paliczka-Cieslik, Aleksandra Kropinska, Agnieszka Pawlaczek, Zbigniew Puch, Kornelia Ficek, Teresa Lisik, Dorota Sygula, Zbigniew Wygoda, Jozef Roskosz, Jerzy Wydmanski, and Barbara Jarzab

Introduction Medullary thyroid carcinoma (MTC) is a rarely diagnosed malignant neoplasm arising from C cells and constitutes only 5% of all thyroid cancers. MTC may occur as a sporadic disease or as part of hereditary multiple endocrine

Open access

Filomena Cetani, Chiara Banti, Elena Pardi, Simona Borsari, Paolo Viacava, Paolo Miccoli, Liborio Torregrossa, Fulvio Basolo, Maria Rosa Pelizzo, Massimo Rugge, Gianmaria Pennelli, Guido Gasparri, Mauro Papotti, Marco Volante, Edda Vignali, Federica Saponaro, and Claudio Marcocci

Introduction Primary hyperparathyroidism (PHPT) is one of the most common endocrine diseases (1) . It is usually a sporadic disorder, but in a minority of cases (<10%) it is a part of hereditary syndromes, namely multiple endocrine neoplasia type 1