المؤلفون: Cotellessa, Ludovica, Marelli, Federica, Duminuco, Paolo, Adamo, Michela, Papadakis, Georgios E, Bartoloni, Lucia, Sato, Naoko, Lang-Muritano, Mariarosaria, Troendle, Amineh, Dhillo, Waljit S, Morelli, Annamaria, Guarnieri, Giulia, Pitteloud, Nelly, Persani, Luca, Bonomi, Marco, Giacobini, Paolo, Vezzoli, Valeria

المصدر: Cotellessa, Ludovica; Marelli, Federica; Duminuco, Paolo; Adamo, Michela; Papadakis, Georgios E; Bartoloni, Lucia; Sato, Naoko; Lang-Muritano, Mariarosaria; Troendle, Amineh; Dhillo, Waljit S; Morelli, Annamaria; Guarnieri, Giulia; Pitteloud, Nelly; Persani, Luca; Bonomi, Marco; Giacobini, Paolo; Vezzoli, Valeria (2023). Defective Jagged1 signaling impacts GnRH development and contributes to congenital hypogonadotropic hypogonadism. Journal of clinical investigation insight, 8(5):e161998.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/231483/1/161998.1_20230201155800_covered_e0fd13ba177f913fd3156f593ead4cfd.pdfTest; info:pmid/36729644; urn:issn:2379-3708

الإتاحة: https://doi.org/10.5167/uzh-23148310.1172/jci.insight.161998Test
https://www.zora.uzh.ch/id/eprint/231483Test/
https://www.zora.uzh.ch/id/eprint/231483/1/161998.1_20230201155800_covered_e0fd13ba177f913fd3156f593ead4cfd.pdfTest

المؤلفون: Cotellessa, Ludovica, Marelli, Federica, Duminuco, Paolo, Adamo, Michela, Papadakis, Georgios E, Bartoloni, Lucia, Sato, Naoko, Lang-Muritano, Mariarosaria, Troendle, Amineh, Dhillo, Waljit S, Morelli, Annamaria, Guarnieri, Giulia, Pitteloud, Nelly, Persani, Luca, Bonomi, Marco, Giacobini, Paolo, Vezzoli, Valeria

المساهمون: L. Cotellessa, F. Marelli, P. Duminuco, M. Adamo, G.E. Papadaki, L. Bartoloni, N. Sato, M. Lang-Muritano, A. Troendle, W.S. Dhillo, A. Morelli, G. Guarnieri, N. Pitteloud, L. Persani, M. Bonomi, P. Giacobini, V. Vezzoli

مصطلحات موضوعية: Development, Fertility, Genetic disease, Genetic, Neurodevelopment, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36729644; info:eu-repo/semantics/altIdentifier/wos/WOS:000949230300001; volume:8; issue:5; firstpage:1; lastpage:21; numberofpages:21; journal:JCI INSIGHT; https://hdl.handle.net/2434/971748Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150000033

الإتاحة: https://doi.org/10.1172/jci.insight.161998Test
https://hdl.handle.net/2434/971748Test

المؤلفون: Vezzoli, Valeria, Hrvat, Faris, Goggi, Giovanni, Federici, Silvia, Cangiano, Biagio, Quinton, Richard, Persani, Luca, Bonomi, Marco

المساهمون: V. Vezzoli, F. Hrvat, G. Goggi, S. Federici, B. Cangiano, R. Quinton, L. Persani, M. Bonomi

مصطلحات موضوعية: GnRH deficiency, congenital hypogonadotropic hypogonadism, delayed puberty, genetic test, self-limited delayed puberty, Settore MED/13 - Endocrinologia, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36726466; info:eu-repo/semantics/altIdentifier/wos/WOS:000919263100001; volume:13; firstpage:1; lastpage:14; numberofpages:14; journal:FRONTIERS IN ENDOCRINOLOGY; https://hdl.handle.net/2434/971751Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85147155632

الإتاحة: https://doi.org/10.3389/fendo.2022.1069741Test
https://hdl.handle.net/2434/971751Test

المؤلفون: Oleari, Roberto, Lettieri, Antonella, Manzini, Stefano, Paganoni, Alyssa, André, Valentina, Grazioli, Paolo, Busnelli, Marco, Duminuco, Paolo, Vitobello, Antonio, Philippe, Christophe, Bizaoui, Varoona, Storr, Helen L, Amoruso, Federica, Memi, Fani, Vezzoli, Valeria, Massa, Valentina, Scheiffele, Peter, Howard, Sasha R, Cariboni, Anna

المساهمون: R. Oleari, A. Lettieri, S. Manzini, A. Paganoni, V. André, P. Grazioli, M. Busnelli, P. Duminuco, A. Vitobello, C. Philippe, V. Bizaoui, H.L. Storr, F. Amoruso, F. Memi, V. Vezzoli, V. Massa, P. Scheiffele, S.R. Howard, A. Cariboni

مصطلحات موضوعية: Autism spectrum disorder, Delayed puberty, GnRH neuron, NLGN3, Neuritogenesi, Transcriptome, Settore BIO/13 - Biologia Applicata

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36810932; info:eu-repo/semantics/altIdentifier/wos/WOS:000972144600001; volume:16; issue:3; journal:DISEASE MODELS & MECHANISMS; https://hdl.handle.net/2434/964776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151044980

الإتاحة: https://doi.org/10.1242/dmm.049996Test
https://hdl.handle.net/2434/964776Test

المؤلفون: Cangiano, Biagio, Amodeo, Alessandro, Lunati, Elena, Vezzoli, Valeria, Galazzi, Elena, Persani, Luca, Fiorina, Paolo, Bonomi, Marco

المصدر: Endocrine Abstracts ; ISSN 1479-6848

الإتاحة: https://doi.org/10.1530/endoabs.99.p269Test
http://www.endocrine-abstracts.org/ea/0099/ea0099P269Test

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

المصدر: 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 ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/abfdecb5-d041-4334-9815-2aaf62fdd639Test

الإتاحة: https://doi.org/10.1530/EC-22-0367Test
https://pure.eur.nl/en/publications/abfdecb5-d041-4334-9815-2aaf62fdd639Test
https://pure.eur.nl/ws/files/82989279/2049_3614_EC_22_0367.pdfTest
http://www.scopus.com/inward/record.url?scp=85143912696&partnerID=8YFLogxKTest

المؤلفون: Federici, Silvia, Cangiano, Biagio, Goggi, Giovanni, Messetti, Dario, Munari, Elisabetta Veronica, Amer, Myriam, Giovanelli, Luca, Hrvat, Faris, Vezzoli, Valeria, Persani, Luca, Bonomi, Marco

المساهمون: S. Federici, B. Cangiano, G. Goggi, D. Messetti, E.V. Munari, M. Amer, L. Giovanelli, F. Hrvat, V. Vezzoli, L. Persani, M. Bonomi

مصطلحات موضوعية: GnRH (gonadotropin releasing hormone), congenital hypogonadotropic hypogonadism (CHH), female, genetic, phenotype [mesh], sex, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36531499; info:eu-repo/semantics/altIdentifier/wos/WOS:000898892900001; volume:13; firstpage:1; lastpage:12; numberofpages:12; journal:FRONTIERS IN ENDOCRINOLOGY; https://hdl.handle.net/2434/950416Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144110591

الإتاحة: https://doi.org/10.3389/fendo.2022.965074Test
https://hdl.handle.net/2434/950416Test

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

المصدر: Endocrine Connections, 11 (12

مصطلحات موضوعية: Généralités, congenital hypogonadotropic hypogonadism, disorders of sex development, next-generation sequencing, primary ovarian insufficiency, rare diseases or syndromes

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1530/EC-22-0367; uri/info:scp/85143912696; https://dipot.ulb.ac.be/dspace/bitstream/2013/370902/1/doi_354546.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/370902Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/370902Test

المؤلفون: Grassi, Elisa Stellaria, Labadi, Arpad, Vezzoli, Valeria, Ghiandai, Viola, Bonomi, Marco, Persani, Luca

المساهمون: E.S. Grassi, A. Labadi, V. Vezzoli, V. Ghiandai, M. Bonomi, L. Persani

مصطلحات موضوعية: thyrotropin receptor, congenital hypothyroidism, G protein coupled receptor, chaperone, autophagosome, functional rehabilitation, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33446056; info:eu-repo/semantics/altIdentifier/wos/WOS:000620272100001; volume:31; issue:7; firstpage:1030; lastpage:1040; numberofpages:11; journal:THYROID; http://hdl.handle.net/2434/806612Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105598606

الإتاحة: https://doi.org/10.1089/thy.2020.0415Test
http://hdl.handle.net/2434/806612Test

المؤلفون: Bresesti, Chiara, Vezzoli, Valeria, Cangiano, Biagio, Bonomi, Marco

المساهمون: Ministero della Salute

المصدر: Frontiers in Oncology ; volume 11 ; ISSN 2234-943X

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.3389/fonc.2021.605606Test