Approach to the patient with a variant of uncertain significance on genetic testing

Autor: Paul Newey

Publikováno v: Clinical Endocrinology. 97:400-408

Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider family, but is dependent on the accurate interpretation of test results. The processes of variant interpretation are by their nature imprecise such tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a803ff8a3d288ad7a2f54ddcd96f79c
https://doi.org/10.1111/cen.14818

Generation of conditional MEN1 knockout human induced pluripotent stem cells (iPSCs) provide a genetically-tractable disease model to investigate cell-type specific gene function

Autor: Kumara Dissanayake, Conor Poland, Marek Gierlinski, Lindsay Davidson, Paul Newey

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::df5e461a25cdd36e2ec495d92a4c137a
https://doi.org/10.1530/endoabs.86.oc2.1

Genetic testing in endocrinology

Autor: Márta Korbonits, Paul Newey

This chapter begins with describing the genetic basis of endocrine disease, and the potential utility for genetic testing (alongside consent). It then covers different types of genetic tests and their applications. There is a section on pituitary ade

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a3f8b2d6f3d32701e6a5421e48b5730
https://doi.org/10.1093/med/9780198851899.003.0013

Frequency of pathogenic germline variants in hereditary endocrine tumour genes in patients with discordant cancer phenotypes

Autor: Paul Newey, Hannah Vennard, Pavithran Maniam, Jonathan Berg, David Goudie

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f847e1958fe63427c59df1573b8fabc4
https://doi.org/10.1530/endoabs.65.p146

Unmet therapeutic, educational and scientific needs in parathyroid disorders : Consensus Statement from the first European Society of Endocrinology Workshop (PARAT)

Autor: Jens Bollerslev, Camilla Schalin-Jäntti, Lars Rejnmark, Heide Siggelkow, Hans Morreau, Rajesh Thakker, Antonio Sitges-Serra, Filomena Cetani, Claudio Marcocci, Andrea Guistina, Wim Van Hul, Karin Amrein, Tanja Sikjaer, Elif Hindie, Kyriakos Vamvakidis, Sabrina Corbetta, Zhanna Balaia, Marianne Astor, Ozer Makay, Paul Newey, Fadil Hannan, Lars Rolighed, Natasha Appelman-Dijkstra, Corrina Wicke, Stefan Pilz, Federica Saponaro, Peter Vestergard

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Bollerslev, J, Schalin-Jäntti, C, Rejnmark, L, Siggelkow, H, Morreau, H, Thakker, R, Sitges-Serra, A, Cetani, F, Marcocci, C & PARAT Workshop Group 2019, ' Unmet therapeutic, educational and scientific needs in parathyroid disorders : Consensus statement from the first European Society of Endocrinology Workshop (PARAT) ', European Journal of Endocrinology, vol. 181, no. 3, pp. P1-P19 . https://doi.org/10.1530/EJE-19-0316
European journal of endocrinology
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 181(3), P1-P19. BIOSCIENTIFICA LTD
Bollerslev, J, Schalin-Jantti, C, Rejnmark, L, Siggelkow, H, Morreau, H, Thakker, R, Sitges-Serra, A, Cetani, F, Marcocci, C, PARAT Workshop Group, Guistina, A, Van Hul, W, Amrein, K, Sikjaer, T, Hindle, E, Vamvalddis, K, Corbetta, S, Balaia, Z, Astor, M, Makay, O, Newey, P, Hannan, F, Rolighed, L, Appelman-Dijkstra, N, Wicke, C, Pilz, S, Saponaro, F & Vestergard, P 2019, ' Unmet therapeutic, educational and scientific needs in parathyroid disorders : Consensus Statement from the first European Society of Endocrinology Workshop (PARAT) ', European Journal of Endocrinology, vol. 181, no. 3, pp. P1-P19 . https://doi.org/10.1530/EJE-19-0316

PARAT, a new European Society of Endocrinology program, aims to identify unmet scientific and educational needs of parathyroid disorders, such as primary hyperparathyroidism (PHPT), including parathyroid cancer (PC), and hypoparathyroidism (HypoPT).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f1cc8dc04c4b96cd1707f757352ce3
https://ddd.uab.cat/record/226487