Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Eugénie S. Lim"'
Autor:
Sara Mellid, Eduardo Gil, Rocío Letón, Eduardo Caleiras, Emiliano Honrado, Susan Richter, Nuria Palacios, Marcos Lahera, Juan C. Galofré, Adriá López-Fernández, Maria Calatayud, Aura D. Herrera-Martínez, María A. Galvez, Xavier Matias-Guiu, Milagros Balbín, Esther Korpershoek, Eugénie S. Lim, Francesca Maletta, Sofia Lider, Stephanie M. J. Fliedner, Nicole Bechmann, Graeme Eisenhofer, Letizia Canu, Elena Rapizzi, Irina Bancos, Mercedes Robledo, Alberto Cascón
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
IntroductionThe percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last
Externí odkaz:
https://doaj.org/article/c4c5fc8413084893a0bdc6df97e44790
Autor:
Dahlia F Davidoff, Eugénie S Lim, Diana E Benn, Yuvanaa Subramaniam, Eleanor Dorman, John R Burgess, Scott A Akker, Roderick J Clifton-Bligh
Publikováno v:
Endocrine-Related Cancer. 30
Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for Krebs’s cycle enzymes, including succinate dehydrogenase (SDH). Inheritance of SDH alleles is a
Autor:
Prodromos Chatzikyriakou, Dimitria Brempou, Mark Quinn, Lauren Fishbein, Roberta Noberini, Ioannis N. Anastopoulos, Nicola Tufton, Eugenie S. Lim, Rupert Obholzer, Johnathan G. Hubbard, Mufaddal Moonim, Tiziana Bonaldi, Katherine L. Nathanson, Louise Izatt, Rebecca J. Oakey
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes; associated tumours are grouped into three Clusters, reinforced by their
Externí odkaz:
https://doaj.org/article/66cb18fe933b4376a23415ba736e406b
Publikováno v:
Frontline Gastroenterology. 7:234-239
To determine whether short-term changes in liver tests (bilirubin, albumin, gamma glutamyl transferase, alkaline phosphatase, alanine aminotransferase (ALT) and aspartate aminotransferase) predict 12-month mortality and, if so, which test is most inf