Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Giampaolo, Trivellin"'
Autor:
Adrian F. Daly, Leslie A. Dunnington, David F. Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M. Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould, Salvatore Cannavò, Patrick Pétrossians, Andrea Lania, James R. Lupski, Albert Beckers, Constantine A. Stratakis, Brynn Levy, Giampaolo Trivellin, Martin Franke
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated duplications disrupt the integrity of the topologically associating do
Externí odkaz:
https://doaj.org/article/3554c83b75ce4cf485ca6c1f7161c979
Autor:
Manuela Caruso, Diego Mazzatenta, Sofia Asioli, Giuseppe Costanza, Giampaolo Trivellin, Martin Franke, Dayana Abboud, Julien Hanson, Véronique Raverot, Patrick Pétrossians, Albert Beckers, Marco Cappa, Adrian F. Daly
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
X-linked acrogigantism (X-LAG) is a rare form of pituitary gigantism that is associated with growth hormone (GH) and prolactin-secreting pituitary adenomas/pituitary neuroendocrine tumors (PitNETs) that develop in infancy. It is caused by a duplicati
Externí odkaz:
https://doaj.org/article/7947c1800ddc4f16bb1a084904a86f5f
Autor:
Sunita M. C. De Sousa, Angeline Shen, Christopher J. Yates, Roderick Clifton-Bligh, Stephen Santoreneos, James King, John Toubia, Giampaolo Trivellin, Andrea G. Lania, Constantine A. Stratakis, David J. Torpy, Hamish S. Scott
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionGermline loss-of-function variants in PAM, encoding peptidylglycine α-amidating monooxygenase (PAM), were recently discovered to be enriched in conditions of pathological pituitary hypersecretion, specifically: somatotrophinoma, corticot
Externí odkaz:
https://doaj.org/article/8744933f161647be97ed9c22bd62f41e
Autor:
Giampaolo Trivellin, Adrian F. Daly, Laura C. Hernández-Ramírez, Elisa Araldi, Christina Tatsi, Ryan K. Dale, Gus Fridell, Arjun Mittal, Fabio R. Faucz, James R. Iben, Tianwei Li, Eleonora Vitali, Stanko S. Stojilkovic, Peter Kamenicky, Chiara Villa, Bertrand Baussart, Prashant Chittiboina, Camilo Toro, William A. Gahl, Erica A. Eugster, Luciana A. Naves, Marie-Lise Jaffrain-Rea, Wouter W. de Herder, Sebastian JCMM Neggers, Patrick Petrossians, Albert Beckers, Andrea G. Lania, Richard E. Mains, Betty A. Eipper, Constantine A. Stratakis
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionPituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral imp
Externí odkaz:
https://doaj.org/article/a30ad5f4cae84c6c862ca43129169b04
Autor:
Adrian M. Wong, Tushar P. Patel, Elizabeth K. Altman, Nicol Tugarinov, Giampaolo Trivellin, Jack A. Yanovski
Publikováno v:
Adipocyte, Vol 10, Iss 1, Pp 21-27 (2021)
The Tg(Adipoq-cre)1Evdr mouse has become an important tool in adipose tissue biology. However, the exact genomic transgene integration site has not been established. Using Targeted Locus Amplification (TLA) we found the transgene had integrated on mo
Externí odkaz:
https://doaj.org/article/a19e4e67404a4a9c8a251bd866f4b0ca
Autor:
Elisabetta Lavezzi, Alessandro Brunetti, Valeria Smiroldo, Gennaro Nappo, Vittorio Pedicini, Eleonora Vitali, Giampaolo Trivellin, Gherardo Mazziotti, Andrea Lania
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundThe fourth type of multiple endocrine neoplasia (MEN) is known as a rare variant of MEN presenting a MEN1-like phenotype and originating from a germline mutation in CDKN1B. However, due to the small number of cases documented in the literat
Externí odkaz:
https://doaj.org/article/f0c13cd26d224efab8af3d4ca7b8ca7c
Autor:
Giampaolo Trivellin, Adrian F. Daly, Laura C. Hernández-Ramírez, Elisa Araldi, Christina Tatsi, Ryan K. Dale, Gus Fridell, Arjun Mittal, Fabio R. Faucz, James R. Iben, Tianwei Li, Eleonora Vitali, Stanko S. Stojilkovic, Peter Kamenicky, Chiara Villa, Bertrand Baussart, Prashant Chittiboina, Camilo Toro, William A. Gahl, Erica A. Eugster, Luciana A. Naves, Marie-Lise Jaffrain-Rea, Wouter W. de Herder, Sebastian JCMM Neggers, Patrick Petrossians, Albert Beckers, Andrea G. Lania, Richard E. Mains, Betty A. Eipper, Constantine A. Stratakis
Publikováno v:
medRxiv
Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f8050d2a30a58b9ba340adbc1ceb13
https://doi.org/10.1101/2023.01.20.23284646
https://doi.org/10.1101/2023.01.20.23284646
Autor:
Tushar P. Patel, Nicol Tugarinov, Giampaolo Trivellin, Elizabeth K Altman, Adrian M Wong, Jack A. Yanovski
Publikováno v:
Adipocyte
article-version (VoR) Version of Record
Adipocyte, Vol 10, Iss 1, Pp 21-27 (2021)
article-version (VoR) Version of Record
Adipocyte, Vol 10, Iss 1, Pp 21-27 (2021)
The Tg(Adipoq-cre)1Evdr mouse has become an important tool in adipose tissue biology. However, the exact genomic transgene integration site has not been established. Using Targeted Locus Amplification (TLA) we found the transgene had integrated on mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ed2b55082944c2954add33f0359b28b
http://europepmc.org/articles/PMC7781622
http://europepmc.org/articles/PMC7781622
Autor:
Alessandro Brunetti, Elisabetta Lavezzi, Alexia Bertuzzi, Gennaro Nappo, Alice Laffi, Vittorio Pedicini, Eleonora Vitali, Giampaolo Trivellin, Gherardo Mazziotti, Andrea Lania
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc35f8d2b86a30ff7fbec8fb97ebbe6f
https://doi.org/10.1530/endoabs.81.ep594
https://doi.org/10.1530/endoabs.81.ep594
Autor:
Fady Hannah-Shmouni, Giampaolo Trivellin, Pablo Beckers, Lefkothea P. Karaviti, Maya Lodish, Christina Tatsi, Adekunle M. Adesina, Fotini Adamidou, Gesthimani Mintziori, Jami L. Josefson, Martha Quezado, Constantine A. Stratakis
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 8; Pages: 2168
Overgrowth due to growth hormone (GH) excess affects approximately 10% of patients with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG). Our aim is to describe the clinical, biochemical, pathological, and genetic features of GH excess i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e11852c6c4f683dc62d964d55b72954