The genetic diagnosis of rare endocrine disorders of sex development and maturation:a survey among Endo-ERN centres

Autor: Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti

Publikováno v: Persani, L, Cools, M, Ioakim, S, Ahmed, S F, Andonova, S, Avbelj-Stefanija, M, Baronio, F, Bouligand, J, Bruggenwirth, H T, Davies, J H, De Baere, E, Dzivite-Krisane, I, Fernandez-Alvarez, P, Gheldof, A, Giavoli, C, Gravholt, C H, Hiort, O, Holterhus, P-M, Juul, A, Krausz, C, Lagerstedt-Robinson, K, McGowan, R, Neumann, U, Novelli, A, Peyrassol, X, Phylactou, L A, Rohayem, J, Touraine, P, Westra, D, Vezzoli, V & Rossetti, R 2022, ' The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres ', Endocrine Connections, vol. 11, no. 12, e220367 . https://doi.org/10.1530/EC-22-0367
ENDOCRINE CONNECTIONS
Scientia
Endocrine Connections, 11(12):e220367. Bioscientifica Ltd
Persani, L, Cools, M, Ioakim, S, Faisal Ahmed, S, Andonova, S, Avbelj-Stefanija, M, Baronio, F, Bouligand, J, Bruggenwirth, H T, Davies, J H, De Baere, E, Dzivite-Krisane, I, Fernandez-Alvarez, P, Gheldof, A, Giavoli, C, Gravholt, C H, Hiort, O, Holterhus, P-M, Juul, A, Krausz, C, Lagerstedt-Robinson, K, McGowan, R, Neumann, U, Novelli, A, Peyrassol, X, Phylactou, L A, Rohayem, J, Touraine, P, Westra, D, Vezzoli, V & Rossetti, R 2022, ' The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres ', Endocrine Connections, vol. 11, no. 12, e220367 . https://doi.org/10.1530/EC-22-0367

Disorders of sex development; Next-generation sequencing; Primary ovarian insufficiency Trastornos del desarrollo sexual; Secuenciación de próxima generación; Insuficiencia ovárica primaria Trastorns del desenvolupament sexual; Seqüenciació de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bf22d3a829ee297bbeee0b4ae6bc974
https://curis.ku.dk/ws/files/345685724/2049_3614_EC_22_0367.pdf

Obesity status and obesity-associated gut dysbiosis effects on hypothalamic structural covariance

Autor: Romina Miranda-Olivos, Carles Soriano-Mas, J. Puig, María Arnoriaga-Rodríguez, Andrés Moya, J. Rivera-Pinto, Gerard Blasco, Carles Biarnes, Oren Contreras-Rodríguez, Vicente Pérez-Brocal, Clàudia Coll, José Manuel Fernández-Real, Lluís Ramió-Torrentà, M. L. Calle

Publikováno v: INTERNATIONAL JOURNAL OF OBESITY
r-FISABIO. Repositorio Institucional de Producción Científica
instname
International Journal of Obesity (2005)
International Journal of Obesity, 2022, vol. 46, p. 30-38
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

[Background]: Functional connectivity alterations in the lateral and medial hypothalamic networks have been associated with the development and maintenance of obesity, but the possible impact on the structural properties of these networks remains lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009b7f03705a6b583c125687eaf12f93
https://ddd.uab.cat/record/251205

Patient-Centered Outcomes with Pituitary and Parasellar Disease

Autor: Maria-Antonia Martínez-Momblan, Elena Valassi, Anna Aulinas, Susan M. Webb, Eugenia Resmini, Alicia Santos, Luciana Martel

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona

Over the last 2 decades, advances in the diagnosis and management of pituitary diseases have made it possible to attain an endocrine “cure” in a large proportion of patients. In other words, tumors can be excised or controlled with drugs, mass ef

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a01298381cb610ae6f8df7e8cdcbe33
https://pubmed.ncbi.nlm.nih.gov/32101858

Parathyroid diseases

Autor: Fernández Blázquez, Raquel, Universitat Autònoma de Barcelona. Facultat de Veterinària

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Pòster Febrer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0fae6d26ead639aee276c790a7077754
https://ddd.uab.cat/record/179830

New murine Niemann-Pick type C models bearing a pseudoexongenerating mutation recapitulate the main neurobehavioural and molecular features of the disease

Autor: Gómez Grau, Marta, Albaigès, Júlia, Casas, Josefina, Auladell i Costa, M. Carme, Dierssen, Mara, Vilageliu i Arqués, Lluïsa, Grinberg Vaisman, Daniel Raúl

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports

Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. This autosomal recessive lysosomal disorder is characterised by the defective lysosomal secretion of cholesterol and sphingolipids. No effe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8c3885c1272cc280aa27348be3925e98
http://hdl.handle.net/2445/107267