Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Hypogonadism/genetics"'
Autor:
Ludovica Cotellessa, Federica Marelli, Paolo Duminuco, Michela Adamo, Georgios E. Papadakis, Lucia Bartoloni, Naoko Sato, Mariarosaria Lang-Muritano, Amineh Troendle, Waljit S. Dhillo, Annamaria Morelli, Giulia Guarnieri, Nelly Pitteloud, Luca Persani, Marco Bonomi, Paolo Giacobini, Valeria Vezzoli
Publikováno v:
JCI insight, vol. 8, no. 5, pp. e161998
In vertebrate species, fertility is controlled by gonadotropin-releasing hormone (GnRH) neurons. GnRH cells arise outside the central nervous system, in the developing olfactory pit, and migrate along olfactory/vomeronasal/terminal nerve axons into t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bfe4c97738bcd53b22e49b1919e656
https://doi.org/10.1172/jci.insight.161998
https://doi.org/10.1172/jci.insight.161998
Autor:
Konstantina Chachlaki, Andrea Messina, Virginia Delli, Valerie Leysen, Csilla Maurnyi, Chieko Huber, Gaëtan Ternier, Katalin Skrapits, Georgios Papadakis, Sonal Shruti, Maria Kapanidou, Xu Cheng, James Acierno, Jesse Rademaker, Sowmyalakshmi Rasika, Richard Quinton, Marek Niedziela, Dagmar L’Allemand, Duarte Pignatelli, Mirjam Dirlewander, Mariarosaria Lang-Muritano, Patrick Kempf, Sophie Catteau-Jonard, Nicolas J. Niederländer, Philippe Ciofi, Manuel Tena-Sempere, John Garthwaite, Laurent Storme, Paul Avan, Erik Hrabovszky, Alan Carleton, Federico Santoni, Paolo Giacobini, Nelly Pitteloud, Vincent Prevot
Publikováno v:
Science Translational Medicine
Science Translational Medicine, 2022, 14 (665), pp.eabh2369. ⟨10.1126/scitranslmed.abh2369⟩
Science translational medicine, vol. 14, no. 665, pp. eabh2369
Science Translational Medicine, 2022, 14 (665), pp.eabh2369. ⟨10.1126/scitranslmed.abh2369⟩
Science translational medicine, vol. 14, no. 665, pp. eabh2369
The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction. We hypothesized that a disruption of neuronal NO synthase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4b9ba2a2f53ed6983bfc3208da7475d
https://www.hal.inserm.fr/inserm-03841246
https://www.hal.inserm.fr/inserm-03841246
Autor:
Catarina I Gonçalves, Sofia Martins, Filipa M. Patriarca, Manuel C. Lemos, José M. Aragüés, Bernardo Dias Pereira, Fernando Campos de Assis Fonseca, Olinda Marques, José Martinez-de-Oliveira, Davide Carvalho
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)
Scientific Reports
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)
Scientific Reports
Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62f8d89bdf7867dd95716c4d911e0eb
https://hdl.handle.net/10216/136291
https://hdl.handle.net/10216/136291
Autor:
Johannes R. Lemke, Daniel Konrad, Jean-Marc Ferrara, Nelly Pitteloud, Lucie Favre, Christian De Geyter, Özlem Turhan Iyidir, Federico Santoni, Duarte Pignatelli, Vera Popovic, Franziska Phan-Hug, Sandra Pekic, Sara Santini, Richard Quinton, Huanming Yang, Waljit S. Dhillo, James S Acierno, Saba Sharif, Cheng Xu, Dagmar l'Allemand, Jiankang Li, Laura Marino, Jenny Meylan, Brian Stevenson, Michael Hauschild, Georgios Papadakis, Xuanzhu Liu, Mariarosaria Lang-Muritano, Attila Nemeth, Sasha Howard, Anne De Paepe, Christa E. Flück, Caroline Chambion, Gabor Szinnai, Leo Dunkel, Andrew A. Dwyer, Pierre-Marc Bouloux, Jianguo Zhang, Gerasimos P. Sykiotis, Daniele Cassatella
Publikováno v:
European Journal of Endocrinology
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568
European journal of endocrinology, vol. 178, no. 4, pp. 377-388
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568
European journal of endocrinology, vol. 178, no. 4, pp. 377-388
Objective Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction betwe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41916f2f017d502984a978a4f638e0e4
https://doi.org/10.1530/ey.15.7.8
https://doi.org/10.1530/ey.15.7.8
Autor:
Amato, Lorena Guimarães Lima
O Hipogonadismo hipogonadotrófico isolado (HHI) congênito é uma síndrome clínica rara causada por defeito na produção ou secreção do hormônio liberador de gonadotrofinas (GnRH) pelo hipotálamo ou por resistência hipofisária à ação do
Autor:
Lorena Guimarães Lima Amato
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
O Hipogonadismo hipogonadotrófico isolado (HHI) congênito é uma síndrome clínica rara causada por defeito na produção ou secreção do hormônio liberador de gonadotrofinas (GnRH) pelo hipotálamo ou por resistência hipofisária à ação do
Autor:
Attila Nemeth, Christian De Geyter, Irene Halperin, Nicolas J Niederländer, Laura Marino, Cheng Xu, Nelly Pitteloud, Richard Quinton, Lucie Favre, Duarte Pignatelli, Georgios Papadakis, Daniele Cassatella, Andrew A. Dwyer, Katrin Feller, Almer M. van der Sloot, Philippe Maeder, Christa E. Flück, Deborah Bartholdi, Sandra Pekic Djurdjevic, James S Acierno, Michael Hauschild
Publikováno v:
Genetics in medicine, vol. 20, no. 8, pp. 872-881
PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1fe06385ffabe5f7a70f895c46f4662
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Study question What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? Summary answer Three of forty-two (7.1%) patients presented ANOS1 mutations, including a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6636859e27fe709bfda1ad848b3c75f
Autor:
Jakob Høgild Langdahl, Claus B. Juhl, Nina N. T. T. Nguyen, Anja Lisbeth Frederiksen, Klaus Brusgaard
Publikováno v:
Langdahl, J H, Frederiksen, A L, Nguyen, N N T T, Brusgaard, K & Juhl, C B 2017, ' Boucher Neuhäuser Syndrome-A rare cause of inherited hypogonadotropic hypogonadism : A case of two adult siblings with two novel mutations in PNPLA6 ', European Journal of Medical Genetics, vol. 60, no. 2, pp. 105-109 . https://doi.org/10.1016/j.ejmg.2016.11.003
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db89c73c39c791be408cb7d922c7b3f3
https://pubmed.ncbi.nlm.nih.gov/27866050
https://pubmed.ncbi.nlm.nih.gov/27866050
Autor:
Michel Polak, Carine Villanueva, Lacey Plummer, Franziska Phan-Hug, Michael Hauschild, Juliane Léger, Cheng Xu, Yisrael Sidis, Nelly Pitteloud, Taneli Raivio, Hervé Lefebvre, Elka Jacobson-Dickman, Jean-Claude Carel, Moosa Mohammadi, Dov Tiosano, Sylvie Manouvrier, Gerasimos P. Sykiotis, Pierre Bouloux, Jean-Pierre Rey, Valérie Drouin-Garraud, Youli Hu, Andrew A. Dwyer, Yang Liu, Andrew Beenken, Nicolas de Roux, Johanna Tommiska, Marion Gérard
Publikováno v:
Genetics In Medicine : Official Journal of the American College of Medical Genetics, vol. 17, no. 8, pp. 651-659
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two. METHODS: We identified patients with CHH and SHFM through internatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd2cce1ba19eb4ef4285006a764d41a
https://serval.unil.ch/resource/serval:BIB_DD27A8DA5823.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_DD27A8DA5823.P001/REF.pdf