Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Hélèna Huguet"'
Autor:
Laurent Maïmoun, Denis Mariano-Goulart, Helena Huguet, Eric Renard, Patrick Lefebvre, Marie-Christine Picot, Anne-Marie Dupuy, Jean-Paul Cristol, Philippe Courtet, Vincent Boudousq, Antoine Avignon, Sébastien Guillaume, Ariane Sultan
Publikováno v:
Endocrine Connections, Vol 11, Iss 5, Pp 1-12 (2022)
Objectives: The two-fold aim of this study was: (i) to determine the effect s of undernutrition on the myokines in patients with restrictive anorexia nervosa (AN) and (ii) to examine the potential link between myokines and bone parameters. Methods: I
Externí odkaz:
https://doaj.org/article/0dbfe404b4264a1abf0e288adf02ec4f
Autor:
Hamouda Abassi, Helena Huguet, Marie-Christine Picot, Marie Vincenti, Sophie Guillaumont, Annie Auer, Oscar Werner, Gregoire De La Villeon, Kathleen Lavastre, Arthur Gavotto, Pascal Auquier, Pascal Amedro
Publikováno v:
Health and Quality of Life Outcomes, Vol 18, Iss 1, Pp 1-14 (2020)
Abstract Background In the context of tremendous progress in congenital cardiology, more attention has been given to patient-related outcomes, especially in assessing health-related quality of life (HRQoL) of patients with congenital heart diseases (
Externí odkaz:
https://doaj.org/article/318be5a428054e4882fe5db8fd0bb5cb
Autor:
Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients ca
Externí odkaz:
https://doaj.org/article/8fa606812b804c0a99225be600404957
Autor:
Béatrice Bocquet, PhD, Hicham El Alami Trebki, MD, Anne Françoise Roux, PharmD, PhD, Gilles Labesse, PhD, Philippe Brabet, PhD, Carl Arndt, MD, PhD, Xavier Zanlonghi, MD, Sabine Defoort-Dhellemmes, MD, Dalil Hamroun, PhD, Céline Boulicot-Séguin, MD, Léopoldine Lequeux, MD, Marie Christine Picot, MD, Hélèna Huguet, Isabelle Audo, MD, PhD, Claire Marie Dhaenens, PharmD, PhD, Vasiliki Kalatzis, PhD, Isabelle Meunier, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 1, Iss 3, Pp 100052- (2021)
Purpose: To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod–cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children and adults. Design: Retrospective cohort stu
Externí odkaz:
https://doaj.org/article/b3a7eb18fcf84de483d98e7fc8b6450f
Autor:
Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12642 (2021)
Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we
Externí odkaz:
https://doaj.org/article/40828ac7e7714ecb9a2c7357e1ad0888
Akademický článek
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Autor:
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac, Pascal Amedro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associate
Externí odkaz:
https://doaj.org/article/3fdcf20d63e3405d901d1338b04c6ed7
Autor:
Meunier, Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle
Publikováno v:
International Journal of Molecular Sciences; Volume 22; Issue 23; Pages: 12642
Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we
Autor:
Pascal Amedro, Stefan Matecki, Taissa Pereira dos Santos, Sophie Guillaumont, Jonathan Rhodes, Suellen Moli Yin, Alfred Hager, Julia Hock, Gregoire De La Villeon, Johan Moreau, Anne Requirand, Luc Souilla, Marie Vincenti, Marie-Christine Picot, Helena Huguet, Thibault Mura, Arthur Gavotto
Publikováno v:
Sports Medicine - Open, Vol 9, Iss 1, Pp 1-12 (2023)
Abstract Background The evaluation of health status by cardiopulmonary exercise test (CPET) has shown increasing interest in the paediatric population. Our group recently established reference Z-score values for paediatric cycle ergometer VO2max, app
Externí odkaz:
https://doaj.org/article/0c69d83531254c12b380ab0bf153c985
Publikováno v:
BMJ Open, Vol 13, Iss 8 (2023)
Introduction When both severe metabolic acidemia (pH equal or less than 7.20; PaCO2 equal or less than 45 mm Hg and bicarbonate concentration equal or less than of 20 mmol/L) and moderate-to-severe acute kidney injury are observed, day 28 mortality i
Externí odkaz:
https://doaj.org/article/171d9247a4e94eb29fd80cfcc6f40e1f