Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Johnny Deladoëy"'
Publikováno v:
Frontiers in Endocrinology, Vol 8 (2017)
BackgroundThe occurrence of hypoglycemia and hyperglycemia during the first days after transition to continuous subcutaneous insulin infusion (CSII) in patients with type 1 diabetes has not been systematically studied in children. The aim of this pro
Externí odkaz:
https://doaj.org/article/ea16d5e1c49a479fb5098e77535731d8
Autor:
Rasha Abu-Khudir, Jean Paquette, Anne Lefort, Frederick Libert, Jean-Pierre Chanoine, Gilbert Vassart, Johnny Deladoëy
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13420 (2010)
BACKGROUND: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is predominantly a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue. Of these defects, incomplete migration resulting in ectop
Externí odkaz:
https://doaj.org/article/5476721db44442918637eee8f2c360ee
Autor:
Stéphanie Larrivée-Vanier, Martineau Jean-Louis, Fabien Magne, Helen Bui, Guy A. Rouleau, Dan Spiegelman, Mark E. Samuels, Zoha Kibar, Guy Van Vliet, Johnny Deladoëy
Publikováno v:
Thyroid. 32:486-495
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bde696f5ece872f9c0b50164b85e6f
https://doi.org/10.1089/thy.2021.0597
https://doi.org/10.1089/thy.2021.0597
Autor:
Britta Seebauer, Johnny Deladoëy, Xavier De Deken, Gabrielle Dufort, Gabor Szinnai, Karl Heinimann, Dardye Eugene, Sébastien Lévesque, Stéphanie Larrivée-Vanier, Guy Van Vliet, Serge Gravel
Publikováno v:
Thyroid
Six patients are described with bi-allelic DUOX2 variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing respiratory distress, which was promptly alleviated by levothyroxine (LT4). He was a compou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41912ad81e5a1cd98c83a2990f2bea8
https://doi.org/10.1089/thy.2018.0461
https://doi.org/10.1089/thy.2018.0461
Publikováno v:
Sperling Pediatric Endocrinology ISBN: 9780323625203
The thyroid axis is a prime example of the physiologic interactions between the mother, the fetus, and their environment. Congenital hypothyroidism is one of the most common preventable causes of mental retardation. The discovery of the crucial role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3949121504df3f8f75118c1e45bb47e
https://doi.org/10.1016/b978-0-323-62520-3.00008-7
https://doi.org/10.1016/b978-0-323-62520-3.00008-7
Autor:
Johnny Deladoëy, Fabien Magne, Elwaseila Hamdoun, Anna Petryk, Zoha Kibar, Stéphanie Larrivée-Vanier, Guy Van Vliet
Publikováno v:
Journal of the Endocrine Society
In 3 Somalian siblings with severe nongoitrous congenital hypothyroidism, exome sequencing identified a variant in TSHR predicted to be benign in isoform 3 but leading to an intronic mutation in isoform 1 (NM_00369:c.692 + 130C>A), which is the isofo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7acc97981b641b1cdb6ae4e5f82cbb6c
https://doi.org/10.1210/jendso/bvaa183
https://doi.org/10.1210/jendso/bvaa183
Autor:
Martineau Jean-Louis, Fabien Magne, Mark E. Samuels, Stéphanie Larrivée Vanier, Guy Van Vliet, Johnny Deladoëy
Publikováno v:
Journal of the Endocrine Society
BACKGROUND: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is the most common congenital endocrine disease with a prevalence of 1:4,000 live births. We have suggested a two-hit hypothesis to explain CHTD, combining an inherited or de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adff357c6aee034612d41688d7148881
http://europepmc.org/articles/PMC7209357
http://europepmc.org/articles/PMC7209357
Thyroid hormone is crucial for normal neurological development, particularly in the neonatal period and infancy. Both a deficiency or excess of thyroid hormone can have permanent neurodevelopmental consequences. Congenital hypothyroidism (CH) is one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcdf24d199fbe82d8bb819b32dfe46ca
https://doi.org/10.1016/b978-0-12-814823-5.00044-1
https://doi.org/10.1016/b978-0-12-814823-5.00044-1
Autor:
Sonir R. Antonini, Zain Awamleh, Sioban Bacon, Corin Badiu, Kathryn Beardsall, Ingrid J. Block-Kurbisch, Kristien Boelaert, Isabelle Bourdeau, Marcello D. Bronstein, Helen Budge, Manuela Cerbone, Marlene Chakhtoura, Pranesh Chakraborty, Diana Maria Chitimus, Gertrude Costin, Mehul T. Dattani, Diva D. De Leon, Cheri L. Deal, Johnny Deladoëy, Lois E. Donovan, Ghada El-Hajj Fuleihan, Denice S. Feig, Analía V. Freire, Qinqin Gao, Audrey Garneau, Andrea Glezer, Veronica Gomez-Lobo, Romina P. Grinspon, Victor Han, Russell C. Hovey, Raquel Soares Jallad, Venkata S. Jonnakuti, Aspasia Karalis, Harshini Katugampola, Asma Khalil, Md. Wasim Khan, Ahmed Khattab, Christopher S. Kovacs, T’ng Chang Kwok, Anne-Marie Laberge, André Lacroix, David C.W. Lau, Sarah Elizabeth Lawrence, Brian T. Layden, Diana Le Duc, Na Li, Xiang Li, Alexis Light, Bailin Liu, Xiyuan Lu, Eugenie R. Lumbers, Anne Macdonald, Marcio Carlos Machado, Elizabeth A. McGee, Sam A. Mesiano, Geetha Mukerji, Cathy M. Murray, Mithra L. Narasimhan, Maria New, Amanda L. Ogilvy-Stuart, Shalini Ojha, Christine J. Orr, Anca Maria Panaitescu, Georgios E. Papadakis, Francesca Gabriela Paslaru, Jonathan Paul, Gheorghe Peltecu, Jason Phung, Nelly Pitteloud, Jerilynn C. Prior, Zoe E. Quandt, Bethany Radford, Fernando S. Ramalho, Rodolfo A. Rey, María Gabriela Ropelato, Adrian Eugen Rosca, Christopher W. Rowe, Jessica A. Ryniec, Anna Sadovnikova, Kirsten E. Salmeen, Mark E. Samuels, Sahar Sherf, Jien Shim, Roger Smith, Diana E. Stanescu, Brett Stark, Monica F. Stecchini, Matthieu St-Jean, Jerome F. Strauss, Miao Sun, Michael E. Symonds, Jiaqi Tang, Rosemary Townsend, Suzana Elena Voiculescu, Julia Elisabeth von Oettingen, Leanne M. Ward, Declan Wayne, Catherine Takacs Witkop, John J. Wysolmerski, Cheng Xu, Zhice Xu, Jennifer M. Yamamoto, Jessica S. Yang, Steven L. Young, Run Yu, Ana-Maria Zagrean, Leon Zagrean, Mengshu Zhang, Xiuwen Zhou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::219ab5323127e1d5c6ff67fdb9159e8b
https://doi.org/10.1016/b978-0-12-814823-5.09993-1
https://doi.org/10.1016/b978-0-12-814823-5.09993-1
Thyroid morphogenesis is an early event such that the fetal thyroid gland reaches its final location at the 7th week of gestation. However, the fetal thyroid gland begins to be functional only at the 11th week of gestation and cannot supply all the t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a002c25ebafa2ea09022023b8541c4a8
https://doi.org/10.1016/b978-0-12-814823-5.00032-5
https://doi.org/10.1016/b978-0-12-814823-5.00032-5