Zobrazeno 1 - 10
of 341
pro vyhledávání: '"Olaf Hiort"'
Autor:
Sabine Wiegmann, Ralph Schilling, Mirja Winter, Martina Ernst, Katja Wechsung, Ute Kalender, Barbara Stöckigt, Annette Richter-Unruh, Olaf Hiort, Ulla Döhnert, Louise Marshall, Julia Rohayem, Klaus-Peter Liesenkötter, Martin Wabitsch, Gloria Herrmann, Gundula Ernst, Stephanie Roll, Thomas Keil, Uta Neumann
Publikováno v:
PEC Innovation, Vol 5, Iss , Pp 100321- (2024)
Objective: Evaluation of the participant satisfaction with a newly developed interdisciplinary, modular education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents. Methods: The two-day pr
Externí odkaz:
https://doaj.org/article/f4aeea3d5bf343b8916af0c2026eb7af
Autor:
Violeta Iotova, Camilla Schalin-Jäntti, Charlotte Van Beuzekom, Petra Bruegmann, Manuela Broesamle, Olaf Hiort, Alberto M Pereira
Publikováno v:
Endocrine Connections, Vol 12, Iss 9, Pp 1-8 (2023)
The current study aims to assess the development of the knowledge generation program of the European Reference Network on Rare Endocrine Conditions (Endo-ERN) from its start in 2019 until December 2021, with special reference to webinars. We analyzed
Externí odkaz:
https://doaj.org/article/7658b6b0a63f4251b9fb05abf9dbd9c2
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Purpose The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the context of rare diseases (RDs
Externí odkaz:
https://doaj.org/article/ef5f9b76b7484569ab9e82d3e5536374
Autor:
Amir H Zamanipoor Najafabadi, Merel van der Meulen, Ana Luisa Priego Zurita, S Faisal Ahmed, Wouter R van Furth, Evangelia Charmandari, Olaf Hiort, Alberto M Pereira, Mehul Dattani, Diana Vitali, Johan P de Graaf, Nienke R Biermasz
Publikováno v:
Endocrine Connections, Vol 12, Iss 1, Pp 1-12 (2022)
Objective: The European Reference Network on Rare Endocrine Conditions (Endo-ERN) aims to organize high-quality healthcare throughout Europe, inc luding care for pituitary adenoma patients. As surgery is the mainstay of treatment, we aimed to describ
Externí odkaz:
https://doaj.org/article/c074167a1ffa49598139aa8956406089
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:
Endocrine Connections, Vol 11, Iss 22, Pp 1-7 (2022)
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions,
Externí odkaz:
https://doaj.org/article/2d8fa80d5d96414aaaa8f97a72aee4ac
Autor:
Sabine Wiegmann, Martina Ernst, Loretta Ihme, Katja Wechsung, Ute Kalender, Barbara Stöckigt, Annette Richter-Unruh, Sander Vögler, Olaf Hiort, Martina Jürgensen, Louise Marshall, Ingo Menrath, Julia Schneidewind, Isabel Wagner, Julia Rohayem, Klaus-Peter Liesenkötter, Martin Wabitsch, Malaika Fuchs, Gloria Herrmann, Henriette Lutter, Gundula Ernst, Christine Lehmann, Martina Haase, Stephanie Roll, Ralph Schilling, Thomas Keil, Uta Neumann
Publikováno v:
BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Differences in sexual development (DSD) are rare diseases, which affect the chromosomal, anatomical or gonadal sex differentiation. Although patient education is recommended as essential in a holistic care approach, standardised p
Externí odkaz:
https://doaj.org/article/665174da0b424cea88160122ba0dfe0a
Publikováno v:
Endocrine Connections, Vol 11, Iss 3, Pp 1-3 (2022)
Rare diseases are complex health entities with low prevalence (by the European definition less than 1 in 2000 people); some are so rare that only a few patients suffer from the condition in a whole region. In Europe, it is estimated that more than 70
Externí odkaz:
https://doaj.org/article/ac635b3f24d34491bdd121dc39150e1f
Autor:
Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scallet
Publikováno v:
Life, Vol 13, Iss 5, p 1093 (2023)
The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS). Several genes are known to be involved in sex devel
Externí odkaz:
https://doaj.org/article/c7ac1de1023e4cebaa36d633c47c12ee
Autor:
Violeta Iotova, Camilla Schalin-Jäntti, Petra Bruegmann, Manuela Broesamle, Natasa Bratina, Vallo Tillmann, Olaf Hiort, Alberto M Pereira
Publikováno v:
Endocrine Connections, Vol 10, Iss 1, Pp 37-44 (2021)
Objective: The European Reference Network on Rare Endocrine Conditions (Endo-ERN), operational since 2017, consists of 71 health care providers (HCPs) in 19 EU member states. Our objective was to assess education and knowledge on rare endocrine condi
Externí odkaz:
https://doaj.org/article/76102a035b5d45948f4ef14a09f3c80f