Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Eloise Giabicani"'
Autor:
Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)
Abstract Background Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with i
Externí odkaz:
https://doaj.org/article/55647b2d116f4168a75d09b18186ddb5
Autor:
Aurélie Pham, Frédéric Brioude, Marilyne Le Jules Fernandes, Marie-Laure Sobrier, Eloise Giabicani, Irène Netchine, Delphine Mitanchez
Publikováno v:
Eur J Hum Genet
Silver–Russell syndrome (SRS) is a rare imprinting disorder associated with prenatal and postnatal growth retardation. Loss of methylation (LOM) on chromosome 11p15 is observed in 40 to 60% of patients and maternal uniparental disomy (mUPD) for chr
Autor:
Nicolas Obtel, Adeline Le Cabec, Thè Nghia Nguyen, Eloise Giabicani, Stijn J. M. Van Malderen, Jan Garrevoet, Aline Percot, Céline Paris, Christopher Dean, Smail Hadj‐Rabia, Pascal Houillier, Tilman Breiderhoff, Claire Bardet, Thibaud Coradin, Fernando Ramirez Rozzi, Catherine Chaussain
Publikováno v:
Annals of the New York Academy of Sciences 1516(1), 197-211 (2022). doi:10.1111/nyas.14865
Annals of the New York Academy of Sciences
Annals of the New York Academy of Sciences, 2022, ⟨10.1111/nyas.14865⟩
Annals of the New York Academy of Sciences, Wiley, 2022, Virtual Special Issue-Tight Junction, 1516 (1), pp.197-211. ⟨10.1111/nyas.14865⟩
Annals of the New York Academy of Sciences
Annals of the New York Academy of Sciences, 2022, ⟨10.1111/nyas.14865⟩
Annals of the New York Academy of Sciences, Wiley, 2022, Virtual Special Issue-Tight Junction, 1516 (1), pp.197-211. ⟨10.1111/nyas.14865⟩
Annals of the New York Academy of Sciences 1516(1), 197-211 (2022). doi:10.1111/nyas.14865
In epithelia, claudin proteins are important components of the tight junctions as they determine the permeability and specificity to ions of the paracellu
In epithelia, claudin proteins are important components of the tight junctions as they determine the permeability and specificity to ions of the paracellu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e1c66356f09c7544ee5746aa998b7ad
https://bib-pubdb1.desy.de/record/482215
https://bib-pubdb1.desy.de/record/482215
Autor:
Anne Lienhardt-Roussie, Claire Flot, Agnès Linglart, Justine Bacchetta, Iva Gueorguieva, Caroline Storey, Anya Rothenbuhler, Valérie Porquet-Bordes, Jean-Pierre Salles, Eloise Giabicani, Thomas Edouard
Publikováno v:
Hormone research in paediatrics. 93(5)
Aim: To describe the demographic characteristics, risk factors, and presenting features of children with symptomatic nutritional rickets in France. Methods: This is a retrospective study of 38 children diagnosed with nutritional rickets from 1998 to
Autor:
Laurence Perrin, Marjolaine Willems, Sylvie Rossignol, Hélène Bony-Trifunovic, Cécile Brachet, Catherine Naud-Saudreau, Frédéric Brioude, Claire Sechter, Domitille Thomas, Walid Abi Habib, Georges Gelwane, Elise Brischoux-Boucher, Laurence Berard, Virginie Steunou, Claire Jeandel, Yves Le Bouc, Muriel Houang, Irène Netchine, Eloise Giabicani, Sandra Chantot-Bastaraud, Bertrand Isidor, Salah Azzi, James Lespinasse, Isabelle Guemas, Monique Jesuran-Perelroizen, Emmanuelle Caldagues, Pierre-François Souchon, Juliette Piard, Nathalie Thibaud, Marie-Laure Cuvelier, Bich Lam, Régis Coutant, Caroline Storey
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2019-106328⟩
BackgroundThe type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying an IGF1R defect was described, from which a clinical score
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ee6d49255a92d9a87bc5b4b19c1735
https://hal.sorbonne-universite.fr/hal-02435128
https://hal.sorbonne-universite.fr/hal-02435128
Publikováno v:
Best Practice & Research Clinical Endocrinology & Metabolism. 32:523-534
Fetal growth restriction (FGR) can result from multiple causes, such as genetic, epigenetic, environment, hormonal regulation, or vascular troubles and their potential interaction. The physiopathology of FGR is not yet fully elucidated, but the insul
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundA diagnosis of Silver–Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered for patients presenting at least four criteria of the Netchine-Harbison clinical scoring system (NH-CSS). Ce
Externí odkaz:
https://doaj.org/article/58f23c08809e4255902c7634001592ee
Autor:
Eloise Giabicani, Veronique Lockhart
Publikováno v:
Endocrine Abstracts.
Autor:
Irène Netchine, Frédéric Brioude, Guillaume Aubertin, Eloise Giabicani, Béatrice Dubern, Eva Galliani, Michèle Boulé
Publikováno v:
Sleep Medicine
Sleep Medicine, Elsevier, 2019, 64, pp.23-29. ⟨10.1016/j.sleep.2019.05.020⟩
Sleep Medicine, Elsevier, 2019, 64, pp.23-29. ⟨10.1016/j.sleep.2019.05.020⟩
International audience; OBJECTIVE: Imprinting disorders (ID), such as Prader-Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for Silver-Russell syndrome (SRS), another ID that shares clinical features
Autor:
Sylvie Rossignol, Walid Abi Habib, Sophie Geoffron, Salah Azzi, Béatrice Dubern, Sandra Chantot-Bastaraud, Isabelle Oliver Petit, Thuy-Ai Vu-Hong, Marie-Noelle Dufourg, Ana Pinheiro Machado Canton, Catherine Pienkowski, Jennifer Salem, Blandine Esteva, Fanny Morice Picard, Bertrand Isidor, Nicole Philip, Frédéric Brioude, Alexandra Afenjar, Julien Thevenon, David Geneviève, Mélanie Fradin, Marlène Rio, Catherine Naud-Saudreau, Irène Netchine, Maithé Tauber, Christel Chalouhi, Tiffanny Busa, Virginie Steunou, Eloise Giabicani, Solveig Heide, Agnès Linglart, Madeleine D. Harbison
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
Journal of Clinical Endocrinology and Metabolism, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2018, 103 (7), pp.2436-2446. ⟨10.1210/jc.2017-02152⟩
International audience; Context - Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal and postnatal gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8894e7da80c871defde2fe83383cf6
https://hal.science/hal-01926795
https://hal.science/hal-01926795