المؤلفون: Sebastián Castro, Franco G. Brunello, Gabriela Sansó, Paula Scaglia, María Esnaola Azcoiti, Agustín Izquierdo, Florencia Villegas, Ignacio Bergadá, María Gabriela Ropelato, Marcelo A. Martí, Rodolfo A. Rey, Romina P. Grinspon

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: AMH, GnRH, hyposmia, Kallmann syndrome, puberty, testosterone, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.887658/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/ccc7fd59ba5648a2a4803ec51b501e54

المؤلفون: Cecilia Mathó, María Celia Fernández, Jenner Bonanata, Xian-De Liu, Ayelen Martin, Ana Vieites, Gabriela Sansó, Marta Barontini, Eric Jonasch, E. Laura Coitiño, Patricia Alejandra Pennisi

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: VHL, von Hippel–Lindau, novel variants, P138R, L163R, functional characterization, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.854365/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/0530ee22a66f41148a78696477d8fad4

المؤلفون: Lucas S Aparicio, Valeria de Miguel, Marcos Marín, Andrea Paissan, Gabriela Sansó, Susana Lupi, Marta Barontini

المصدر: Journal of Hypertension. 41:e435

مصطلحات موضوعية: Physiology, Internal Medicine, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::10fb1eeca8a8f41e6f7517a6d39f98bd
https://doi.org/10.1097/01.hjh.0000917284.89526.54

المؤلفون: Cecilia Mathó, María Celia Fernández, Jenner Bonanata, Xian-De Liu, Ayelen Martin, Ana Vieites, Gabriela Sansó, Marta Barontini, Eric Jonasch, E. Laura Coitiño, Patricia Alejandra Pennisi

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, VHL, von Hippel–Lindau, novel variants, P138R, L163R, functional characterization, molecular dynamics, simulations

Relation: https://figshare.com/articles/dataset/DataSheet_1_VHL-P138R_and_VHL-L163R_Novel_Variants_Mechanisms_of_VHL_Pathogenicity_Involving_HIF-Dependent_and_HIF-Independent_Actions_pdf/19390205

الاتاحة: https://doi.org/10.3389/fendo.2022.854365.s001
https://figshare.com/articles/dataset/DataSheet_1_VHL-P138R_and_VHL-L163R_Novel_Variants_Mechanisms_of_VHL_Pathogenicity_Involving_HIF-Dependent_and_HIF-Independent_Actions_pdf/19390205

المؤلفون: Rodolfo Rey, E Gabriela Sansó, Ariel José Berenstein, Analia Freire, M. Gabriela Ropelato, Agustín Izquierdo, Paula Scaglia, Franco G Brunello, Marcelo A. Martí, Patricia Bedecarrás, María Esnaola Azcoiti, Romina P Grinspon

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, High prevalence, Pediatric Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Sexual and Gender Development in the Pediatric Population, Medicine, business, Gene, AcademicSubjects/MED00250

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b0a31a92e8c4cf986b60de6149f302
http://europepmc.org/articles/PMC7207673

المؤلفون: Patricia L M Dahia, Ken N Ross, Matthew E Wright, César Y Hayashida, Sandro Santagata, Marta Barontini, Andrew L Kung, Gabriela Sanso, James F Powers, Arthur S Tischler, Richard Hodin, Shannon Heitritter, Francis Moore, Robert Dluhy, Julie Ann Sosa, I Tolgay Ocal, Diana E Benn, Deborah J Marsh, Bruce G Robinson, Katherine Schneider, Judy Garber, Seth M Arum, Márta Korbonits, Ashley Grossman, Pascal Pigny, Sérgio P A Toledo, Vania Nosé, Cheng Li, Charles D Stiles

المصدر: PLoS Genetics, Vol 1, Iss 1, Pp 72-80 (2005)

مصطلحات موضوعية: Genetics, QH426-470

Relation: http://europepmc.org/articles/PMC1183527?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404; https://doaj.org/article/7bb7eecfd11145148cad35a3854632b4

الاتاحة: https://doi.org/10.1371/journal.pgen.0010008
https://doaj.org/article/7bb7eecfd11145148cad35a3854632b4

المؤلفون: Birke, Bausch, Ulrich, Wellner, Mathieu, Peyre, Carsten C, Boedeker, Frederik J, Hes, Mariagiulia, Anglani, Jose M, de Campos, Hiroshi, Kanno, Eamonn R, Maher, Tobias, Krauss, Gabriela, Sansó, Marta, Barontini, Claudio, Letizia, Claudia, Hader, Francesca, Schiavi, Elisabetta, Zanoletti, Carlos, Suárez, Christian, Offergeld, Angelica, Malinoc, Stefan, Zschiedrich, Sven, Glasker, Serge, Bobin, Olivier, Sterkers, Patrice Tran, Ba Huy, Sophie, Giraud, Thera, Links, Charis, Eng, Giuseppe, Opocher, Stephane, Richard, Hartmut P H, Neumann

المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), Damage and Repair in Cancer Development and Cancer Treatment (DARE)

المصدر: Head and Neck: Journal of the Sciences and Specialties of the Head and Neck, 38(S1), E673-E679. Wiley

مصطلحات موضوعية: Adult, Male, von Hippel-Lindau Disease, Adolescent, endocrine system diseases, FEATURES, prevalence, endolymphatic sac tumor, urologic and male genital diseases, Young Adult, MANAGEMENT, Humans, Registries, Child, neoplasms, temporal bone MRI, Ear Neoplasms, Germ-Line Mutation, Aged, MUTATIONS, ORIGIN, MIDDLE-EAR, ADENOCARCINOMA, Middle Aged, female genital diseases and pregnancy complications, ADENOMA, Von Hippel-Lindau Tumor Suppressor Protein, MORBID HEARING-LOSS, Female, Endolymphatic Sac, von Hippel-Lindau, SUPPRESSOR GENE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::123c4f77f839f5ecdc26d3454de11231
https://research.rug.nl/en/publications/12b97d25-3280-49cb-b588-54e666f60d5f

المؤلفون: Frederic Castinetti, Xiao Ping Qi, Martin K. Walz, Ana Luiza Maia, Gabriela Sansó, Mariola Peczkowska, Kornelia Hasse Lazar, Thera P. Links, Sarka Dvorakova, Rodrigo A. Toledo, Caterina Mian, Maria Joao Bugalho, Nelson Wohllk, Oleg Kollyukh, Letizia Canu, Paola Loli, Simona R. Bergmann, Josefina Biarnes Costa, Ozer Makay, Attila Patocs, Marija Pfeifer, Nalini S. Shah, Thomas Cuny, Michael Brauckhoff, Birke Bausch, Ernst von Dobschuetz, Marcin Barczynski, Maria K. Alevizaki, Malgorzata Czetwertynska, M. Umit Ugurlu, Gerlof Valk, John T. M. Plukker, Paola Sartorato, Debora R. Siqueira, Marta Barontini, Malgorzata Szperl, Barbara Jarzab, Hans H. G. Verbeek, Tomas Zelinka, Petr Vlcek, Sergio P. A. Toledo, Flavia L. Coutinho, Massimo Mannelli, Monica Recasens, Lea Demarquet, Svetlana Yaremchuk, Dmitry Zabolotnyi, Francesca Schiavi, Giuseppe Opocher, Karoly Racz, Andrzej Januszewicz, Georges Weryha, Jean Francois Henry, Thierry Brue, Bernard Conte Devolx, Charis Eng, Hartmut P. H. Neumann, LETIZIA, Claudio, PETRAMALA, LUIGI

المساهمون: Frederic, Castinetti, Xiao Ping, Qi, Martin K., Walz, Ana Luiza, Maia, Gabriela, Sansó, Mariola, Peczkowska, Kornelia Hasse, Lazar, Thera P., Link, Sarka, Dvorakova, Rodrigo A., Toledo, Caterina, Mian, Maria Joao, Bugalho, Nelson, Wohllk, Oleg, Kollyukh, Letizia, Canu, Paola, Loli, Simona R., Bergmann, Josefina Biarnes, Costa, Ozer, Makay, Attila, Patoc, Marija, Pfeifer, Nalini S., Shah, Thomas, Cuny, Michael, Brauckhoff, Birke, Bausch, Ernst von, Dobschuetz, Letizia, Claudio, Marcin, Barczynski, Maria K., Alevizaki, Malgorzata, Czetwertynska, M., Umit Ugurlu, Gerlof, Valk, John T. M., Plukker, Paola, Sartorato, Debora R., Siqueira, Marta, Barontini, Malgorzata, Szperl, Barbara, Jarzab, Hans H. G., Verbeek, Tomas, Zelinka, Petr, Vlcek, Sergio P. A., Toledo, Flavia L., Coutinho, Massimo, Mannelli, Monica, Recasen, Lea, Demarquet, Petramala, Luigi, Svetlana, Yaremchuk, Dmitry, Zabolotnyi, Francesca, Schiavi, Giuseppe, Opocher, Karoly, Racz, Andrzej, Januszewicz, Georges, Weryha, Jean Francois, Henry, Thierry, Brue, Bernard Conte, Devolx, Charis, Eng, Hartmut P. H., Neumann

Relation: info:eu-repo/semantics/altIdentifier/pmid/24745698; info:eu-repo/semantics/altIdentifier/wos/WOS:000335512100052; volume:15; firstpage:648; lastpage:655; journal:THE LANCET ONCOLOGY; http://hdl.handle.net/11573/599222; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899970790

الاتاحة: http://hdl.handle.net/11573/599222
https://doi.org/10.1016/S1470-2045(14)70154-8