Results 21 to 30 of about 24,136 (236)

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype [PDF]

, 2013
PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
A Borriello, A Falchetti, A Mehta, A Ozawa, A Wiestner, A Yoon, Alessandro Quattrone, BG Luukkonen, C Le Sage, Carla Scaroni, CC Spevak, CJ Sherr, CJ Sherr, D Malanga, Daniela Regazzo, Denis Ciato, DR Morris, Elena Pardi, Filomena Cetani, Francesca Boaretto, Franco Mantero, G Beffagna, G Johannes, G Occhi, GC Scheper, Giampaolo Trivellin, Gianluca Occhi, Giuseppe Opocher, IM Chu, J Costa-Guda, J Slingerland, K Wethmar, L Liu, L Quintanilla-Martinez, M Georgitsi, M Kozak, M Kozak, M Kullmann, M Matsui, Marshall S. Horwitz, MD Larrea, ML Crowe, ML Fero, Márta Korbonits, Natalia S. Pellegata, NS Pellegata, P Chomczynski, RV Thakker, S Igreja, S Molatore, S Ye, Sara Bobisse, SE Calvo, Sergio Ferasin, SI Reed, SK Agarwal, U Göpfert, Viktoryia Sidarovich, W Zhou, WK Miskimins, Y Wen   +60 more
core   +3 more sources

Corticotropinoma as a Component of Carney Complex. [PDF]

, 2017
Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown.
Chittiboina, Prashant, Dimopoulos, Aggeliki, Faucz, Fabio R, Hernández-Ramírez, Laura C, Kay, Denise M, Lane, John, Lodish, Maya B, Mills, James L, Pankratz, Nathan, Stratakis, Constantine A, Tatsi, Christina, Valdés, Nuria   +11 more
core   +2 more sources

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

World Journal of Surgical Oncology, 2011
The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%.
Kamakari Smaragda, Evangelou Konstantinos, Sakellariou Stratigoula, Zilos Athanassios, Dimitriou Nikoletta, Griniatsos John E, Korkolopoulou Penelope, Kaltsas Gregory   +7 more
doaj   +1 more source

Adrenocortical carcinoma in patients with MEN1: a kindred report and review of the literature

Endocrine Connections, 2019
Objective: Up to 40% of multiple endocrine neoplasia type 1 (MEN1) patients may have adrenal cortical tumors. However, adrenocortical carcinoma (ACC) is rare.
Weixi Wang, Rulai Han, Lei Ye, Jing Xie, Bei Tao, Fukang Sun, Ran Zhuo, Xi Chen, Xiaxing Deng, Cong Ye, Hongyan Zhao, Shu Wang   +11 more
doaj   +1 more source

Subjective Annotation for a Frame Interpolation Benchmark using Artefact Amplification [PDF]

, 2020
Current benchmarks for optical flow algorithms evaluate the estimation either directly by comparing the predicted flow fields with the ground truth or indirectly by using the predicted flow fields for frame interpolation and then comparing the ...
Bruhn, Andrés, Hosu, Vlad, Lin, Hanhe, Men, Hui, Saupe, Dietmar   +4 more
core   +3 more sources

Multiple endocrine neoplasia type 1

Indian Journal of Endocrinology and Metabolism, 2012
Multiple endocrine neoplasia type 1 (MEN1) is characterized by the occurrence of parathyroid, pancreatic islet and anterior pituitary tumors. Some patients may also develop carcinoid tumors, adrenocortical tumors, facial angiofibromas, collagenomas, and ...
R V Thakker
doaj   +1 more source

Bone phenotypes in multiple endocrine neoplasia type 1: survey on the MEN1 Florentine database

Endocrine Connections, 2022
Multiple endocrine neoplasia type 1 (MEN1) is a rare, inherited cancer syndrome characterized by the development of multiple endocrine and non-endocrine tumors.
Francesca Marini, Francesca Giusti, Teresa Iantomasi, Federica Cioppi, Maria Luisa Brandi   +4 more
doaj   +1 more source

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Generation and characterization of Men1 mutant mouse models for studying MEN1 disease

Journal of Pancreatology, 2019
. Patients with multiple endocrine neoplasia type 1 (MEN1) mutations are predisposed to MEN1 syndrome affecting various endocrine cell lineages. Following its identification in the late 1990s, laboratories around the world, including our own, used gene ...
Ya-kun Luo, MS, Razan A. Ziki, MS, Chang X. Zhang, PhD   +2 more
doaj   +1 more source

The Cell Death Inhibitor ARC Is Induced in a Tissue-Specific Manner by Deletion of the Tumor Suppressor Gene Men1, but Not Required for Tumor Development and Growth.

PLoS ONE, 2015
Multiple endocrine neoplasia type 1 (MEN1) is a genetic disorder characterized by tissue-specific tumors in the endocrine pancreas, parathyroid, and pituitary glands.
Wendy M McKimpson, Ziqiang Yuan, Min Zheng, Judy S Crabtree, Steven K Libutti, Richard N Kitsis   +5 more
doaj   +1 more source