Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Valerie M. Schwitzgebel"'
Publikováno v:
BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background New-onset diabetes in youth encompasses type 1 diabetes, type 2 diabetes, monogenic diabetes, and rarer subtypes like Type B insulin resistance syndrome and ketosis-prone atypical diabetes in African populations. Some cases defy c
Externí odkaz:
https://doaj.org/article/01c667654c6b4a6391c394fb7f642e9a
Autor:
Caroline Stekelenburg, Jean-Louis Blouin, Federico Santoni, Norann Zaghloul, Elisabeth A. O’Hare, Rodolphe Dusaulcy, Pierre Maechler, Valerie M. Schwitzgebel
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract We identified two NEXMIF variants in two unrelated individuals with non-autoimmune diabetes and autistic traits, and investigated the expression of Nexmif in mouse and human pancreas and its function in pancreatic beta cells in vitro and in
Externí odkaz:
https://doaj.org/article/34e22b0932044412902bc1caf1277407
Autor:
Ingrida Stankute, Rimante Dobrovolskiene, Evalda Danyte, Dovile Razanskaite-Virbickiene, Edita Jasinskiene, Giedre Mockeviciene, Dalia Marciulionyte, Valerie M. Schwitzgebel, Rasa Verkauskiene
Publikováno v:
Journal of Diabetes Research, Vol 2019 (2019)
Cardiovascular risk and obesity are becoming major health issues among individuals with type 1 diabetes (T1D). The aim of this study was to evaluate cardiovascular risk factors and obesity in youth with T1D in Lithuania. Methods. 883 patients under 2
Externí odkaz:
https://doaj.org/article/a1512d25300949678ecd6841db7732af
Publikováno v:
Swiss Medical Weekly, Vol 147, Iss 4546 (2017)
Monogenic diabetes (MD) accounts for 1–2% of all diabetes cases. Because of its wide phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requir
Externí odkaz:
https://doaj.org/article/fd30be557f5f44ebade30822c3a99d35
Autor:
Julia Mührer, Mariarosaria Lang-Muritano, Roger Lehmann, Jean-Louis Blouin, Valerie M. Schwitzgebel
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 36:101-104
Objectives We aimed to identify the origin of atypical diabetes in a family with four generations of diabetes from South Asia. The family members showed different clinical phenotypes. Members of generation one to three were presumed to have type 2 di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::444f6bc26a8222ae44f6e797f76f4fe7
https://doi.org/10.1515/jpem-2022-0356
https://doi.org/10.1515/jpem-2022-0356
Autor:
Ingrida Stankute, Rimante Dobrovolskiene, Evalda Danyte, Rasa Steponaviciute, Valerie M. Schwitzgebel, Rasa Verkauskiene
Publikováno v:
Pediatric Diabetes. 23:1009-1016
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9dec0a2a62e43efed6688e9d2bdc7000
https://doi.org/10.1111/pedi.13404
https://doi.org/10.1111/pedi.13404
Autor:
Thierry Nouspikel, Jean‐Louis Blouin, Jardena J Puder, Bettina Köhler Ballan, Valerie M Schwitzgebel
Publikováno v:
Journal of Diabetes Investigation, Vol 13, Iss 2, Pp 256-261 (2022)
Hyperglycemia caused by mutations in the glucokinase gene, GCK, is the most common form of monogenic diabetes. Prenatal diagnosis is important, as it impacts on treatment. This study reports a monogenic non‐invasive prenatal diagnostic (NIPD‐M) t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::3af4cc7268f1b49445e252abc663d4c0
https://doaj.org/article/3ec00bfa9d8543a89ed22d57b37eb57d
https://doaj.org/article/3ec00bfa9d8543a89ed22d57b37eb57d
Autor:
Claudia Boettcher, Marie-Anne Burckardt, Kathrin Heldt, Sara Bachmann, Mariarosaria Lang-Muritano, Michael Hauschild, Philippe Klee, Mirjam Dirlewanger, Valerie M. Schwitzgebel
Publikováno v:
Forum Médical Suisse ‒ Swiss Medical Forum.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a94be67a8362eb30e0bfb20441ead21e
https://doi.org/10.4414/fms.2022.09285
https://doi.org/10.4414/fms.2022.09285
Autor:
Ingrida Stankute, Mintaute Kazlauskiene, Jean-Louis Blouin, Valerie M Schwitzgebel, Rasa Verkauskiene
Publikováno v:
BMJ open diabetes researchcare. 10(6)
IntroductionThe aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes.Research design and methodsIt is a continuation of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cfa9933b8eec95ae7bba072b25e9068
https://pubmed.ncbi.nlm.nih.gov/36585034
https://pubmed.ncbi.nlm.nih.gov/36585034
Autor:
Caroline, Stekelenburg, Jean-Louis, Blouin, Federico, Santoni, Norann, Zaghloul, Elisabeth A, O'Hare, Rodolphe, Dusaulcy, Pierre, Maechler, Valerie M, Schwitzgebel
Publikováno v:
Scientific reports. 12(1)
We identified two NEXMIF variants in two unrelated individuals with non-autoimmune diabetes and autistic traits, and investigated the expression of Nexmif in mouse and human pancreas and its function in pancreatic beta cells in vitro and in vivo. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::835b4a7df05dacd1688fc566f57bfbba
https://pubmed.ncbi.nlm.nih.gov/35970867
https://pubmed.ncbi.nlm.nih.gov/35970867