Results 101 to 110 of about 2,522,691 (166)

Increased prevalence of impaired fasting glucose in MEN1 gene mutation carriers

, 2012
Objective Multiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome characterized by parathyroid, gastroenteropancreatic, pituitary and adrenal tumours. Cardiovascular disease has been identified as an important cause of death in MEN1 patients.
Van Wijk, Jeroen P H, Dreijerink, K. M A, Pieterman, C. R C, Zelissen, P. M J, Lips, C. J M, Valk, G. D.   +5 more
core   +1 more source

Two novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report

Hereditary Cancer in Clinical Practice
Multiple endocrine neoplasia type 1 (MEN1), or Wermer’s syndrome, is a rare autosomal dominant genetic disorder caused by MEN1 mutations, which rarely result in thymic tumors.
Zi Dai, Jing Zhang, Jing Wang, Leshi Ma, Pei Liao, Xiaojie Deng, Zhenxiang Li, Zhijie Luo, Jieshan Guan   +8 more
doaj   +1 more source

Multiple Uterine Leiomyomas in Multiple Endocrine Neoplasia Type 1 with a Novel MEN1 Gene Mutation. [PDF]

J Hum Reprod Sci, 2020
Misgar RA, Sahu D, Purra S, Wani AI, Bashir MI.   +4 more
europepmc   +1 more source

Exclusion of FAU as the Multiple Endocrine Neoplasia type 1 (MEN1) gene

, 1993
The FAU gene (FBR-MuSV associated ubiquitously expressed gene) encodes the ribosomal protein S30 fused with a Ubiquitin-like molecule. The FAU gene is expressed in a wide range of tissues, is evolutionarily conserved, and has putative tumour suppressor ...
Thompson, N., Britt Skogseid, Norman Thompson, Nordenskj\uf6ld, M., Koen Kas, Larsson, C., Kerstin S, Eitan Friedman, Jozef Merregaert, Michiels, L., Luc Michiels, Skogseid, B., Weber, G., Friedman, E., Kas, K., Sandelin, K., Catharina Larsson, Gtinther Weber, Magnus Nordenskjold, Merregaert, Joseph   +19 more
core  

Multiple endocrine neoplasia with an atypical clinical course and a MEN1 gene variant of uncertain pathogenicity: A case report. [PDF]

Medicine (Baltimore)
Sato S, Arahata M, Kumano Y, Kawai K.
europepmc   +1 more source

Pathogenic mobile element insertion in the <i>MEN1</i> gene mimicking a deletion in MLPA: characterisation by long-read sequencing. [PDF]

J Med Genet
Pfeifer A, Zebracka-Gala J, Pawlaczek A, Zajkowicz A, Abramowicz A, Tecza K, Kotecka-Blicharz A, Langer-Maciol H, Cieslicka M, Rusinek D, Porc M, Cyplinska R, Oczko-Wojciechowska M.   +12 more
europepmc   +1 more source

A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes. [PDF]

Epilepsia, 2019
Montier L, Haneef Z, Gavvala J, Yoshor D, North R, Verla T, Van Ness PC, Drabek J, Goldman AM.   +8 more
europepmc   +1 more source

Novel germline likely pathogenic frameshift variant of the MEN1 gene contributes to multiple endocrine neoplasia type 1: a case report with review of literature. [PDF]

Endocr J
Yamazaki M, Kojima T, Shibata Y, Kosho T, Komatsu M.   +4 more
europepmc   +1 more source

Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics

, 2004
Primary hyperparathyroidism (pHPT) is a common endocrine disease that in more than 95% of cases is sporadic and only in some cases is caused by inherited disorders, isolated or as part of multiple endocrine neoplasia (MEN1 and 2).
I. Presta, D. Russo, D. Scarpelli, C. Cristofaro, A. Scillitani, F. Arturi, L. D'Aloiso, FILETTI, SEBASTIANO, M. Bisceglia   +8 more
core  

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas. [PDF]

J Endocrinol Invest
Smirne C, Giacomini GM, Berton AM, Pasini B, Mercalli F, Prodam F, Caputo M, Brosens LAA, Mollero ELM, Pitino R, Pirisi M, Aimaretti G, Ghigo E.   +12 more
europepmc   +1 more source