Results 71 to 80 of about 8,287 (164)

Molecular diagnosis of multiple endocrine neoplasia type 2A.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998
To identify by means of genetic analyses individuals who are at risk of developing medullary thyroid cancer that is a component of multiple endocrine neoplasia.A three-generation kindred with clinically and biochemically diagnosed medullary thyroid cancer.Identification of a heterozygote mutation by nucleic acid sequencing and restriction analyses.A ...
Pegoraro, RJ, Hacking, DJ, Buck, RH, Rom, L, Lanning, PA, Berger, GMB   +5 more
openaire   +2 more sources

A Case Report of Multiple Endocrine Neoplasia Type IIa Associated with Cushing Syndrome

پزشکی بالینی ابن سینا, 2013
Introduction: Multiple endocrine neoplasia type IIa (MEN IIa) is an autosomal dominant syndrome characterized bypheochromocytoma ,medullary thyroid carcinoma and hyperparathyroidism.
Shiva Borzouei, Vida Sheikh, Seyyed Habib Allah Mosavi Bahar, Ali Yousefian, Radin Maheronnaghsh   +4 more
doaj  

Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation

Stem Cell Research, 2016
Multiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and ...
J. Hadoux, O. Féraud, F. Griscelli, P. Opolon, D. Divers, E. Gobbo, M. Schlumberger, A. Bennaceur-Griscelli, A.G. Turhan   +8 more
doaj   +1 more source

The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis

Endocrine Connections, 2018
Background: Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN ...
Xiao-Ping Qi, Jian-Zhong Peng, Xiao-Wei Yang, Zhi-Lie Cao, Xiu-Hua Yu, Xu-Dong Fang, Da-Hong Zhang, Jian-Qiang Zhao   +7 more
doaj   +1 more source

RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

PLoS ONE, 2011
BackgroundWhole exome sequencing provides a labor-saving and direct means of genetic diagnosis of hereditary disorders in which the pathogenic gene harbors a large cohort of exons.
Xiao-Ping Qi, Ju-Ming Ma, Zhen-Fang Du, Rong-Biao Ying, Jun Fei, Hang-Yang Jin, Jian-Shan Han, Jin-Quan Wang, Xiao-Ling Chen, Chun-Yue Chen, Wen-Ting Liu, Jia-Jun Lu, Jian-Guo Zhang, Xian-Ning Zhang   +13 more
doaj   +1 more source

A germline RET proto-oncogene mutation in multiple members of an Arab family with variable onset of MEN type 2A-associated clinical manifestations

Egyptian Journal of Medical Human Genetics, 2017
Background: Multiple endocrine neoplasia type 2A (MEN2A) is a rare cancer associated-syndrome, inherited in an autosomal dominant fashion and caused by germline mutation in RET proto-oncogene.
Makia Marafie, Ibrahim Suliman, Mohammed Dashti, Abdulla Redha, Abdulrahman Alshati   +4 more
doaj   +1 more source

Challenging Perioperative Management of a MEN2A Syndrome Patient Complicated by Eisenmenger Syndrome

Turkish Journal of Anaesthesiology and Reanimation
Multiple endocrine neoplasia type 2A (MEN2A), is associated with pheochromocytoma and medullary carcinoma of the thyroid. A surgical procedure in these patients can be complicated if they have any congenital heart disease (CHD).
Amit Rastogi, Gaurav Agarwal, Sumit Sachan, Aditya Kapoor, Preeti Dabadghao   +4 more
doaj   +1 more source

RET codon 609 mutations: a contribution for better clinical managing

Clinics, 2012
Medullary thyroid carcinoma currently accounts for 5-8% of all thyroid cancers. The clinical course of this disease varies from extremely indolent tumors that can go unchanged for years to an extremely aggressive variant that is associated with a high ...
Caterina Mian, Paola Sartorato, Susi Barollo, Mariangela Zane, Giuseppe Opocher   +4 more
doaj   +1 more source

Multiple Endocrine Neoplasia Type 2A [PDF]

, 2020
openaire   +3 more sources

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study [PDF]

Cancers (Basel), 2023
Holm M, Vestergaard P, Poulsen MM, Rasmussen ÅK, Feldt-Rasmussen U, Bay M, Rolighed L, Londero S, Pedersen HB, Hahn CH, Rask KB, Nielsen HH, Gaustadnes M, Rossing MC, Hermann AP, Godballe C, Mathiesen JS.   +16 more
europepmc   +1 more source