Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

Autor: Luciani R. Carvalho, Mariana F A Funari, Fernanda A. Correa, Marilena Nakaguma, Lucas Santos de Santana, Ivo J.P. Arnhold, Antonio M. Lerario, Ricardo V Perez, Martha K.P. Huayllas, Berenice B. Mendonca, Mirta Miras, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge

Publikováno v: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
Endocrine Connections

Aim Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f369e7021748b915b027973a88fc6dad
https://ec.bioscientifica.com/view/journals/ec/8/5/EC-19-0085.xml

A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.

Autor: Tsoy UA; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Sokolnikova PS; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Kravchuk EN; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Ryazanov PA; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Kozyreva AA; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Fomicheva YV; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Aramisova LS; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Karonova TL; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation., Kostareva AA; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation.; Department of Women's and Children's Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden., Grineva E; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russian Federation.

Publikováno v: Neuroendocrinology [Neuroendocrinology] 2024 Nov 13, pp. 1-21. Date of Electronic Publication: 2024 Nov 13.