Diagnostic challenges and management of a patient with acromegaly due to ectopic growth hormone-releasing hormone secretion from a bronchial carcinoid tumour

Autor: Nikolaos Kyriakakis, Jacqueline Trouillas, Mary N Dang, Julie Lynch, Paul Belchetz, Márta Korbonits, Robert D Murray

Publikováno v: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2017)

A male patient presented at the age of 30 with classic clinical features of acromegaly and was found to have elevated growth hormone levels, not suppressing during an oral glucose tolerance test. His acromegaly was originally considered to be of pitu

Externí odkaz: https://doaj.org/article/ba9161478c3e4268aee3085e826fd953

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

Autor: Maike Nieser, Rosana Quezado, Emily M. Walker, Plamena Gabrovska, Bruno Niederle, Donato Iacovazzo, Michael Brändle, Matthew B. Johnson, Wouter W. de Herder, Richard Caswell, Bence Sipos, Roland Stein, Márta Korbonits, Sarah E. Flanagan, Min Guo, Fernando Antonio de Sousa Barros, Emanuel Christ, Ketan Dhatariya, Philippe Chanson, Andrea Frilling, Sian Ellard, Björn Konukiewitz, Stefan Jenni, Günter Klöppel, Matthew Wakeling, Mary N Dang

Publikováno v: Proceedings of the National Academy of Sciences of the U.S.A., 115(5), 1027-1032. National Academy of Sciences
Proceedings of the National Academy of Sciences of the United States of America

Significance We report a disease-causing mutation in the β-cell–enriched MAFA transcription factor. Strikingly, the missense p.Ser64Phe MAFA mutation was associated with either of two distinct phenotypes, multiple insulin-producing neuroendocrine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395166a736d18a84f19916684afa9d59
https://pure.eur.nl/en/publications/1d812ddf-7bdc-4c3a-9aa5-51f5702706e8

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family

Autor: Helen L Storr, M. Powell, Harvinder Chahal, Pedro Marques, Joan Grieve, Arla Ogilvie, Mary N Dang, Peter J. Goadsby, Ajith Kumar, Amy Ronaldson, Sayka Barry, Jane Evanson, Márta Korbonits

Publikováno v: International Journal of Endocrinology, Vol 2018 (2018)

Introduction. Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion inAIP, aiming to highlight the in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::225fce6995a06cfdf9069f17a0c7161d

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an

Autor: Pedro, Marques, Sayka, Barry, Amy, Ronaldson, Arla, Ogilvie, Helen L, Storr, Peter J, Goadsby, Michael, Powell, Mary N, Dang, Harvinder S, Chahal, Jane, Evanson, Ajith V, Kumar, Joan, Grieve, Márta, Korbonits

Publikováno v: International Journal of Endocrinology

Introduction Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in AIP, aiming to highlight the in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::40fe75f5b5611cc5ab9ef592039fd57b
https://pubmed.ncbi.nlm.nih.gov/29849625

Risk category system to identify pituitary adenoma patients with

Autor: Francisca, Caimari, Laura Cristina, Hernández-Ramírez, Mary N, Dang, Plamena, Gabrovska, Donato, Iacovazzo, Karen, Stals, Sian, Ellard, Márta, Korbonits

Publikováno v: Journal of Medical Genetics

Background Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl hydrocarbon receptor-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a73f251b02e614defb3f7e74dbc21bed
https://pubmed.ncbi.nlm.nih.gov/29440248