Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Susanne Thiele"'
Autor:
Claudia Boettcher, Sascha R. Tittel, Felix Reschke, Maria Fritsch, Felix Schreiner, Maike Achenbach, Susanne Thiele-Schmitz, Anton Gillessen, Angela Galler, Nicole Nellen-Hellmuth, Sven Golembowski, Reinhard W. Holl
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
ContextThe condition when a person’s gender identity does not match the sex assigned at birth is called gender incongruence (GI). Numbers of GI people seeking medical care increased tremendously over the last decade. Diabetes mellitus is a severe a
Externí odkaz:
https://doaj.org/article/cde4a8c565464094a8a99275b3cca548
Autor:
Cavarzere Paolo, Gastaldi Andrea, Francesca Marta Elli, Gaudino Rossella, Peverelli Erika, Brugnara Milena, Susanne Thiele, Granata Francesca, Mantovani Giovanna, Antoniazzi Franco
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutati
Externí odkaz:
https://doaj.org/article/a95747950f024141a285905c723866ff
Autor:
Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani, Franco Antoniazzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/3cd974cfae2041ad8dc03f10d9273e43
Publikováno v:
Beilstein Journal of Organic Chemistry, Vol 6, Iss 1, p 57 (2010)
One important access to monodisperse (functionalized) oligoPPEs is based on the orthogonality of the alkyne protecting groups triisopropylsilyl and hydroxymethyl (HOM) and on the polar tagging with the hydroxymethyl moiety for an easy chromatographic
Externí odkaz:
https://doaj.org/article/d0b5d08d7da7446593a3c1a6be45ee8b
Autor:
Beate Karges, Sascha R Tittel, Alexander Bey, Clemens Freiberg, Christof Klinkert, Olga Kordonouri, Susanne Thiele-Schmitz, Carmen Schröder, Claudia Steigleder-Schweiger, Reinhard W Holl
Publikováno v:
The Lancet Diabetes & Endocrinology. 11:314-323
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c18c38198a4591893d6f1cb5c080637a
https://doi.org/10.1016/s2213-8587(23)00061-x
https://doi.org/10.1016/s2213-8587(23)00061-x
Autor:
Clemens Kamrath, Sascha R. Tittel, Desiree Dunstheimer, Elke Fröhlich-Reiterer, Markus Freff, Claudia Böttcher, Nadine Scheffler, Stefanie Lenze, Elke Gericke, Susanne Thiele, Reinhard W. Holl
Publikováno v:
Kamrath, Clemens; Tittel, Sascha R; Dunstheimer, Desiree; Fröhlich-Reiterer, Elke; Freff, Markus; Böttcher, Claudia; Scheffler, Nadine; Lenze, Stefanie; Gericke, Elke; Thiele, Susanne; Holl, Reinhard W (2022). Early vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes. Diabetologia, 65(7), pp. 1108-1118. Springer 10.1007/s00125-022-05701-w
Aim Screening for coeliac disease in asymptomatic children with new-onset type 1 diabetes is controversial. The aim of this study was to analyse whether the confirmation of coeliac disease in children with new-onset type 1 diabetes and positive scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e83443a7014ff8a1390e02d7b82fd69
https://boris.unibe.ch/169648/1/Kamrath2022_Article_EarlyVsLateHistologicalConfirm.pdf
https://boris.unibe.ch/169648/1/Kamrath2022_Article_EarlyVsLateHistologicalConfirm.pdf
Autor:
Luisa De Sanctis, Francesca Elli, Guiomar Perez de Nanclares, Agnès Linglart, Susanne Thiele, Patrick Hanna, Giovanna Mantovani, Arrate Pereda, Bruno Francou, Diana-Alexandra Ertl, Anya Rothenbuhler
Publikováno v:
European Journal of Endocrinology. 184:311-320
Objective Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed366eeccbdb7c81d1ae32fe02f6f812
https://doi.org/10.1530/eje-20-0625
https://doi.org/10.1530/eje-20-0625
Publikováno v:
European Journal of Endocrinology
Background: Hypophosphataemic rickets (HR) comprise a clinically and genetically heterogeneous group of conditions, defined by renal-tubular phosphate wasting and consecutive loss of bone mineralisation. X-linked hypophosphataemia (XLH) is the most c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec0c2054fd798771f868e789e86a0bc
http://europepmc.org/articles/PMC7592643
http://europepmc.org/articles/PMC7592643
Autor:
Serap Turan, Eileen M. Shore, Murat Bastepe, Olaf Hiort, Agnès Linglart, Francesca Elli, Roberto Bufo, Guiomar Perez de Nanclares, Michael A. Levine, Beatriz Lecumberri, M. Carola Zillikens, Rebeca Rodado, Vrinda Saraff, Ashley H. Shoemaker, Luisa De Sanctis, Guillemette Devernois, Gianpaolo De Filippo, Aurora Garcia Ramirez, Philip Murray, Susanne Thiele, Outi Mäkitie, Lars Rejnmark, Regina Matsunaga Martin, Manasori Minagawa, Timothee Choplin, Emily L. Germain-Lee, Giovanna Mantovani, Peter Kamenický, Harald Jüppner, Lionel Groussin, Nina Knight, Elvire Le Norcy, Anya Rothenbuhler, Neveen A. T. Hamdy, Robert J. Pignolo, David Monk, Thomas Eggermann, Caroline Silve, Arrate Pereda, Gabriel Á. Martos-Moreno, S Faisal Ahmed, Philip Woods, Patrick Hanna
Publikováno v:
Hormone Research in Paediatrics, 93(3), 182-196. Karger
Horm Res Paediatr
Mantovani, G, Bastepe, M, Monk, D, De Sanctis, L, Thiele, S, Ahmed, S F, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, F M, Garcia Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N A T, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A H, Shore, E M, Silve, C, Turan, S, Woods, P, Zillikens, M C, Perez De Nanclares, G & Linglart, A 2020, ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ', Hormone Research in Paediatrics, vol. 93, no. 3, pp. 182-196 . https://doi.org/10.1159/000508985
Hormone Research in Paediatrics, 93(3), 182-196. KARGER
Horm Res Paediatr
Mantovani, G, Bastepe, M, Monk, D, De Sanctis, L, Thiele, S, Ahmed, S F, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, F M, Garcia Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N A T, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A H, Shore, E M, Silve, C, Turan, S, Woods, P, Zillikens, M C, Perez De Nanclares, G & Linglart, A 2020, ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ', Hormone Research in Paediatrics, vol. 93, no. 3, pp. 182-196 . https://doi.org/10.1159/000508985
Hormone Research in Paediatrics, 93(3), 182-196. KARGER
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental defici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a731aab723ad975230021f30619d2ad
https://doi.org/10.1159/000508985
https://doi.org/10.1159/000508985
Autor:
Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani, Franco Antoniazzi
Publikováno v:
Orphanet Journal of Rare Diseases. 17
Background GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in Gs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90c05aaa738bf41fd65888377353a54
https://doi.org/10.1186/s13023-022-02252-6
https://doi.org/10.1186/s13023-022-02252-6