Zobrazeno 1 - 10 of 91 pro vyhledávání: '"Evelien F Gevers"'
1
Akademický článek
Prader–Willi syndrome: guidance for children and transition into adulthood
Autor: M Guftar Shaikh, Timothy G Barrett, Nicola Bridges, Robin Chung, Evelien F Gevers, Anthony P Goldstone, Anthony Holland, Shankar Kanumakala, Ruth Krone, Andreas Kyriakou, E Anne Livesey, Angela K Lucas-Herald, Christina Meade, Susan Passmore, Edna Roche, Chris Smith, Sarita Soni
Publikováno v: Endocrine Connections, Vol 13, Iss 8, Pp 1-30 (2024)
Prader–Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000–30,000. Management of people with PWS requires a multi-disciplinary approach, ideally throug
Externí odkaz: https://doaj.org/article/b5e071824fac41ed87e7162b92387652
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2
Akademický článek
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
Autor: Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs WE Santen, Maria Chahrour, Hao Zhu
Publikováno v: eLife, Vol 6 (2017)
Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders
Externí odkaz: https://doaj.org/article/ed40f28284084f4c913b487a3f35a670
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3
Akademický článek
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
Autor: Angelica Gualtieri, Nikolina Kyprianou, Louise C. Gregory, Maria Lillina Vignola, James G. Nicholson, Rachael Tan, Shin-ichi Inoue, Valeria Scagliotti, Pedro Casado, James Blackburn, Fernando Abollo-Jimenez, Eugenia Marinelli, Rachael E. J. Besser, Wolfgang Högler, I. Karen Temple, Justin H. Davies, Andrey Gagunashvili, Iain C.A.F. Robinson, Sally A. Camper, Shannon W. Davis, Pedro R. Cutillas, Evelien F. Gevers, Yoko Aoki, Mehul T. Dattani, Carles Gaston-Massuet
Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms. This article
Externí odkaz: https://doaj.org/article/e3eb9cf575fa459d8daff6264b919278
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5
Akademický článek
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
Autor: Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa
Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune def
Externí odkaz: https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
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6
Akademický článek
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells
Autor: Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J. Ajodha, David R. Taylor, Lea Ghataore, Norman F. Taylor, Undine Schubert, Christian G. Ziegler, Helen L. Storr, Maralyn R. Druce, Evelien F. Gevers, William M. Drake, Umasuthan Srirangalingam, Gerard S. Conway, Peter J. King, Louise A. Metherell, Stefan R. Bornstein, Leonardo Guasti
Publikováno v: Cell Reports, Vol 22, Iss 5, Pp 1236-1249 (2018)
Summary: Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback reg
Externí odkaz: https://doaj.org/article/b1f4e353e7f448a3a66cb5d9fd291cc4
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8
Treatment outcome with a selective RET tyrosine kinase inhibitor selpercatinib in children with multiple endocrine neoplasia type 2 and advanced medullary thyroid carcinoma
Autor: Kate Simpson, Tony Hulse, Johnathan G. Hubbard, Tim Beale, Mark N. Gaze, Emma Ross, Evelien F. Gevers, Elene Cattaneo, Ananth Shankar, Ian Proctor, Tom R. Kurzawinski, Lynley V. Marshall, Caroline Brain, Sara Stoneham
Publikováno v: European Journal of Cancer. 158:38-46
Background Medullary thyroid carcinoma (MTC) in the context of multiple endocrine neoplasia type 2 (MEN2) is caused by mutations in the RET proto-oncogene. Therefore, in children with MEN2 and advanced MTC, the RET tyrosine kinase (TK) pathway is a t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cf582f91af66f4126ccba7f58bf8a5b
https://doi.org/10.1016/j.ejca.2021.09.012
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9
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia
Autor: S. F. Ahmed, Tatjana Milenkovic, Eduardo Corrêa Costa, Ruth Krone, Berenice B Mendonca, Niels H Birkebaek, Tania A. S. S. Bachega, Andrea Luczay, Irina-Alexandra Bacila, Martijn J J Finken, Sukran Poyrazoglu, Z. Yavas Abalı, Feyza Darendeliler, Tulay Guran, Eleni Daniel, H. J. van der Kamp, Márta Korbonits, Ajay Thankamony, Ana Vieites, Oliver Blankenstein, Heba Elsedfy, Antonio Balsamo, M. Sandrk, Nils Krone, N. Freeman, Jeremy W. Tomlinson, Klaus Mohnike, Corina Lichiardopol, H.L. Claahsen-van der Grinten, Martine Cools, Walter Bonfig, Salma R Ali, Mirela C Miranda, Rita Ortolano, L. de Vries, Navoda Atapattu, Sabine E. Hannema, Silvia Einaudi, Evelien F. Gevers, J. Bryce, Claire E Higham, Ayla Guven, Richard J. Ross, Violeta Iotova, Uta Neumann
Publikováno v: European Journal of Endocrinology, 184, 553-563
European Journal of Endocrinology, 184(4), 553-563. BioScientifica Ltd.
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-Van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 184(4), 553-563. Bioscientifica Ltd
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
European Journal of Endocrinology, 184, 4, pp. 553-563
Objective Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f9154fc2019becbacb0d0946a9859f2
https://doi.org/10.1530/EJE-20-1249
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10
Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia
Autor: Berenice B. Mendonca, Ana Vieites, Salma R Ali, Nils Krone, Martijn J J Finken, S Faisal Ahmed, Ayla Guven, Richard J. Ross, Silvia Einaudi, Violeta Iotova, Tulay Guran, Rieko Tadokoro-Cuccaro, Evelien F. Gevers, Guilherme Guaragna-Filho, Eduardo Corrêa Costa, James Lewsey, Hannema Se, Mirela C Miranda, Ruth Krone, Rita Ortolano, Niels H Birkebaek, Houra Haghpanahan, Tania A. S. S. Bachega, Andrea Luczay, Sukran Poyrazoglu, Jillian Bryce, Corina Lichiardopol, Christa E. Flück, Oliver Blankenstein, Antonio Balsamo, Ieuan A. Hughes, Claire E Higham, Liat de Vries, Feyza Darendeliler, Hedi L Claahsen-van der Grinten, Martine Cools, Hetty J. van der Kamp, Ajay Thankamony, Anna Nordenström, Navoda Atapattu, Klaus Mohnike, Heba Elsedfy, Walter Bonfig, Li En Tan, Uta Neumann, Márta Korbonits, Tatjana Milenkovic
Publikováno v: Journal of Clinical Endocrinology and Metabolism, 106, 1, pp. E192-E203
The Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 106, E192-E203
Ali, S R, Bryce, J, Haghpanahan, H, Lewsey, J D, Tan, L E, Atapattu, N, Birkebaek, N H, Blankenstein, O, Neumann, U, Balsamo, A, Ortolano, R, Bonfig, W, Claahsen-Van Der Grinten, H L, Cools, M, Costa, E C, Darendeliler, F, Poyrazoglu, S, Elsedfy, H, Finken, M J J, Fluck, C E, Gevers, E, Korbonits, M, Guaragna-Filho, G, Guran, T, Guven, A, Hannema, S E, Higham, C, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Krone, N P, Krone, R, Lichiardopol, C, Luczay, A, Mendonca, B B, Bachega, T A S S, Miranda, M C, Milenkovic, T, Mohnike, K, Nordenstrom, A, Einaudi, S, Van Der Kamp, H, Vieites, A, De Vries, L, Ross, R J M & Ahmed, S F 2021, ' Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia ', Journal of Clinical Endocrinology and Metabolism, vol. 106, no. 1, pp. E192-E203 . https://doi.org/10.1210/clinem/dgaa694
Ali, S R, Bryce, J, Haghpanahan, H, Lewsey, J D, Tan, L E, Atapattu, N, Birkebaek, N H, Blankenstein, O, Neumann, U, Balsamo, A, Ortolano, R, Bonfig, W, Claahsen-van der Grinten, H L, Cools, M, Costa, E C, Darendeliler, F, Poyrazoglu, S, Elsedfy, H, Finken, M J J, Fluck, C E, Gevers, E, Korbonits, M, Guaragna-Filho, G, Guran, T, Guven, A, Hannema, S E, Higham, C, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Krone, N P, Krone, R, Lichiardopol, C, Luczay, A, Mendonca, B B, Bachega, T A S S, Miranda, M C, Milenkovic, T, Mohnike, K, Nordenstrom, A, Einaudi, S, van der Kamp, H, Vieites, A, de Vries, L, Ross, R J M & Ahmed, S F 2021, ' Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 1, pp. e192-e203 . https://doi.org/10.1210/clinem/dgaa694
The Journal of clinical endocrinology and metabolism, 106(1), e192-e203. Endocrine Society
The Journal of clinical endocrinology and metabolism, 106(1), e192-e203. The Endocrine Society
Background Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient- or clinician-reported sick day episodes (SDE) is less clear. Methods Data on children with classic 21-hydroxyla
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8842585b2800121bbcc719a1f184139c
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/230378
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