Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Denise H. van Abswoude"'
Autor:
Denise H. van Abswoude, Karlijn Pellikaan, Naomi Nguyen, Anna G. W. Rosenberg, Kirsten Davidse, Franciska M. E. Hoekstra, Ilse M. Rood, Christine Poitou, Graziano Grugni, Charlotte Høybye, Tania P. Markovic, Assumpta Caixàs, Antonino Crinò, Sjoerd A. A. van den Berg, Aart J. van der Lely, Laura C. G. de Graaff
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/4bb7a1911f2d4e0e918bd1cd80546a0c
Autor:
Denise H. van Abswoude, Karlijn Pellikaan, Naomi Nguyen, Anna G. W. Rosenberg, Kirsten Davidse, Franciska M. E. Hoekstra, Ilse M. Rood, Christine Poitou, Graziano Grugni, Charlotte Høybye, Tania P. Markovic, Assumpta Caixàs, Antonino Crinò, Sjoerd A. A. van den Berg, Aart J. van der Lely, Laura C. G. de Graaff
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundPrader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and hypothalamic dysfunction. Adults with PWS often have obesity, hypertension and ty
Externí odkaz:
https://doaj.org/article/b7fe49a89b8d4fd9b087a1e6cebb9573
Autor:
Denise H van Abswoude, Karlijn Pellikaan, Anna G W Rosenberg, Kirsten Davidse, Muriel Coupaye, Charlotte Høybye, Tania P Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Christine Poitou, Helena Mosbah, Tessa Weir, Leo A van Vlimmeren, Joost P H J Rutges, Luuk W L De Klerk, M Carola Zillikens, Aart J van der Lely, Laura C G de Graaff
Publikováno v:
The Journal of clinical endocrinology and metabolism, 108(1), 59-84. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 108, 59-84
Journal of Clinical Endocrinology and Metabolism, 108, 1, pp. 59-84
Journal of Clinical Endocrinology and Metabolism, 108, 59-84
Journal of Clinical Endocrinology and Metabolism, 108, 1, pp. 59-84
Context Prader–Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are commo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29258b3d285e57a56e73ef6f3e01d415
https://pure.eur.nl/en/publications/5afaaaf1-ca00-4352-bab9-6b2663240847
https://pure.eur.nl/en/publications/5afaaaf1-ca00-4352-bab9-6b2663240847
Autor:
Anna G. W. Rosenberg, Charlotte M. Wellink, Juan M. Tellez Garcia, Karlijn Pellikaan, Denise H. Van Abswoude, Kirsten Davidse, Laura J. C. M. Van Zutven, Hennie T. Brüggenwirth, James L. Resnick, Aart J. Van der Lely, Laura C. G. De Graaff
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 14; Pages: 4033
Journal of Clinical Medicine, 11(14):4033. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine, 11(14):4033. Multidisciplinary Digital Publishing Institute (MDPI)
Prader–Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy