Results 81 to 90 of about 12,302 (171)

Case report: Novel germline c.587delA pathogenic variant in familial multiple endocrine neoplasia type 1

Frontiers in Endocrinology
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic disease, characterized by co-occurrence of several lesions of the endocrine system. In MEN1, the pathogenic MEN1 gene mutations lead to the Abnormal expression of menin, a critical tumor ...
Haotian Huang, Jianwei Li, Kun Zhang, Yu Tang, Min Zhang, Zhen Fan, Tao Wang, Tao Wang, Yaoxia Liu   +8 more
doaj   +1 more source

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, Volume 269, Issue 4-5, Page 387-398, August 2026.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

, 2019
IF 5.789International audienceContext: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary ...
Mohamed, Amira, Borson-Chazot, Françoise, Béroud, Christophe, North, Marie-Odile, Pasmant, Eric, Guien, Celine, Calender, Alain, Pertuit, Morgane, Barlier, Anne,, Romanet, Pauline, Barlier, Anne, A., Coppin, Lucie, Odou, Marie-Françoise, Goudet, Pierre, Giraud, Sophie   +14 more
core   +1 more source

The impact of clinical and genetic screenings on the management of the multiple endocrine neoplasia type 1 Impacto do rastreamento clínico e genético para neoplasia endócrina múltipla tipo 1

Clinics, 2007
PURPOSE: To perform clinical and genetic screening for multiple endocrine neoplasia type 1 (MEN1) in patients at the Academic Hospital of the University of São Paulo School of Medicine, and to analyze its impact on clinical management of patients with ...
Delmar Muniz Lourenço-Jr, Rodrigo Almeida Toledo, Flavia Lima Coutinho, Leontina Conceição Margarido, Sheila Aparecida Coelho Siqueira, Marcelo Augusto Cortina Gonçalves dos Santos, Fabio Luiz de Menezes Montenegro, Marcel Cerqueira Cesar Machado, Sergio Pereira Almeida Toledo   +8 more
doaj   +1 more source

Identification of MEN1 gene mutations in families with MEN1 and related disorders

, 2000
Following identification of the MEN1 gene, we analysed patients from 12 MEN 1 families, 8 sporadic cases of MEN 1, and 13 patients with MEN 1-like symptoms (e.g. cases of familial isolated hyperparathyroidism (FIHPT), familial acromegaly, or atypical MEN
J Shepherd, M Walters, B Teh, Bergman, L., L Bergman, N Hayward, Shepherd, J. R. W., Palmer, J. H., Cardinal, J., Teh, B. T., Walters, M. A., Hayward, N., D Cameron, J Cardinal, Cameron, D. J., J Palmer   +15 more
core   +1 more source

Bone Mineral Density in MEN1: Cause for Concern?

, 2023
MEN1-oireyhtymä on harvinainen perinnöllinen sairaus, johon liittyy taipumus endokriinisten elinten kasvaimiin. Syndrooman tavallisin ja usein ensimmäisenä kehittyvä ilmentymä on primaarinen hyperparatyreoosi eli lisäkilpirauhasten liikatoiminta ...
Kuusela, Emma
core  

Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study

Frontiers in Endocrinology
BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder characterized by multiorgan endocrine tumors, primarily affecting the parathyroid glands, pituitary, and pancreas.
Kyoung Jin Kim, Min Heui Yu, Min Heui Yu, Yoon-a Hwang, Shinje Moon, Namki Hong, Yumie Rhee   +6 more
doaj   +1 more source

Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword?

Endocrine Connections, 2017
Context: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition characterised by the predisposition to hyperplasia/tumours of endocrine glands.
Ruth Therese Casey, Deborah Saunders, Benjamin George Challis, Deborah Pitfield, Heok Cheow, Ashley Shaw, Helen Lisa Simpson   +6 more
doaj   +1 more source

The European Consortium on MEN1 - Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)

, 1997
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary.
Giraud, S., Gaudray, P, Read, AP, Weber, G, Calender, A, Thakker, RV, Bassett, JHD, vanAmstel, HKP, Salmela, P, Ploos van Amstel, HK, Teh, BT, Zhang, CX, Thakker, Rajesh, Giraud, S, Forbes, SA, Hoppener, JWM, McCarthy, M, Larsson, C, Van de Yen, WJM, Lips, CJM, Weber, G., Kytola, S, Leisti, J, Pannett, AAJ, Lips, CJM., Kas, K, VandeVen, WJM   +26 more
core   +1 more source

Hidden diagnosis of multiple endocrine neoplasia-1 unraveled during workup of virilization caused by adrenocortical carcinoma

Indian Journal of Endocrinology and Metabolism, 2013
Multiple endocrine neoplasia-1 (MEN1) is an autosomal dominant syndrome with classic triad of parathyroid hyperplasia, pancreatic neuroendocrine tumors, and pituitary adenomas.
Sandeep Kharb, Aditi Pandit, Abhay Gundgurthi, M K Garg, K S Brar, N Kannan, Reena Bharwaj   +6 more
doaj   +1 more source