Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Marie Pierre Audrézet"'
Autor:
Stéphanie Moisan, Stéphanie Levon, Emilie Cornec-Le Gall, Yannick Le Meur, Marie-Pierre Audrézet, Josée Dostie, Claude Férec
Publikováno v:
BMC Genomics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Cis-regulatory elements control gene expression over large distances through the formation of chromatin loops, which allow contact between enhancers and gene promoters. Alterations in cis-acting regulatory systems could be linked
Externí odkaz:
https://doaj.org/article/f75d895631f845d4a7223400e91412bc
Autor:
Brian Sperelakis‐Beedham, Maureen Lopez, Emmanuelle Bourrat, Natacha Gaitch, Florence Houriez, Brigitte Martinez, Isabelle Fajac, Pierre‐Régis Burgel, Geoffroy Hickman, Marie‐Pierre Audrézet, Delphine Gonde, Faiza Cabet, Mathieu Gerfaud‐Valentin, Raphaele Nove‐Josserand, Caroline Raynal, Adrien Pagin, Marie‐Pierre Reboul, Alix de Becdelièvre, Thierry Bienvenu, Isabelle Callebaut, Emmanuelle Girodon
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10fea32a589ab21ec88d4e647b236e60
https://doi.org/10.1111/jdv.18869
https://doi.org/10.1111/jdv.18869
Publikováno v:
médecine/sciences. 37:491-499
Le dépistage néonatal (DNN) de la mucoviscidose a permis une prise en charge multidisciplinaire très précoce des nourrissons et a amélioré le pronostic de cette maladie. Il a connu, en une vingtaine d’années, un développement international
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc327976590aa1e07dea27a62ee26610
https://doi.org/10.1051/medsci/2021051
https://doi.org/10.1051/medsci/2021051
Autor:
Albertien M. van Eerde, Miguel Barroso-Gil, Fouad T. Chebib, Yannick Le Meur, Vinh Toan Huynh, Andrew Mallett, Amali Mallawaarachchi, Marc Kribs, Himanshu Goel, Eléonore Ponlot, Chirag Patel, John A. Sayer, Albert C.M. Ong, Marie-Pierre Audrézet, Peter C. Harris, Siriane Lefevre, Sarah R. Senum, Valoris Le Brun, Emilie Cornec-Le Gall, Aurore Després
Publikováno v:
Kidney International
Kidney International, Nature Publishing Group, 2020, 98, pp.476-487. ⟨10.1016/j.kint.2020.02.022⟩
Kidney Int
Kidney International, Nature Publishing Group, 2020, 98, pp.476-487. ⟨10.1016/j.kint.2020.02.022⟩
Kidney Int
Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99cf7bdc1add966d6658790fd922ab3a
https://doi.org/10.1016/j.kint.2020.02.022
https://doi.org/10.1016/j.kint.2020.02.022
Autor:
Nathalie Boddaert, Laurence Heidet, Caroline Rutten, Laureline Berteloot, Nicolas Garcelon, Rémi Salomon, Pauline Iorio, Marie-Pierre Audrézet, Vincent Morinière
Publikováno v:
Pediatric Nephrology. 35:1033-1040
While typical ultrasound patterns of ciliopathy-related cystic kidney diseases have been described in children, ultrasound findings can overlap between different diseases and atypical patterns exist. In this study, we assessed the presence of the “
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8a711431300ee5f0dfe4c3d6427801e
https://doi.org/10.1007/s00467-020-04480-z
https://doi.org/10.1007/s00467-020-04480-z
Autor:
Hugo Lemoine, Loann Raud, François Foulquier, John A. Sayer, Baptiste Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C. Harris, Pascal Trouvé, Aurore Desprès, Gabrielle Duneau, Marie Matignon, Anais Poyet, Noémie Jourde-Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Seret, Miguel Barroso-Gil, Coralie Bingham, Rodney Gilbert, Yannick Le Meur, Marie-Pierre Audrézet, Emilie Cornec-Le Gall
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (8), pp.1484-1499. ⟨10.1016/j.ajhg.2022.06.013⟩
American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (8), pp.1484-1499. ⟨10.1016/j.ajhg.2022.06.013⟩
International audience; Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are characterized by the development of kidney cysts and progressive kidney function decline. PKD1 and PKD2, encoding polycystin (PC)1 and 2, are t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a17f107e62e2554bb6f7ef3b40dd67
https://pubmed.ncbi.nlm.nih.gov/35896117
https://pubmed.ncbi.nlm.nih.gov/35896117
Autor:
Siriane, Lefèvre, Marie-Pierre, Audrézet, Jean-Michel, Halimi, Hélène, Longuet, Frank, Bridoux, Laure, Ecotière, Jean-François, Augusto, Agnès, Duveau, Eric, Renaudineau, Cécile, Vigneau, Thierry, Frouget, Christophe, Charasse, Lorraine, Gueguen, Régine, Perrichot, Grégoire, Couvrat, Guillaume, Seret, Yannick, Le Meur, Emilie, Cornec-Le Gall, S, Martin
Publikováno v:
Nephrology Dialysis Transplantation
Nephrology Dialysis Transplantation, In press, ⟨10.1093/ndt/gfac027⟩
Nephrology Dialysis Transplantation, In press, ⟨10.1093/ndt/gfac027⟩
Background Autosomal dominant polycystic kidney disease (ADPKD) is associated with an increased risk for developing intracranial aneurysms (IAs). We aimed to evaluate the frequency of diagnosis of IAs in the cross-sectional, population-based, Genkyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878a7330bbc6902b8e2ce43597b0eabd
https://hal.science/hal-03576768/document
https://hal.science/hal-03576768/document
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
C. Llerena, M. Mittaine, Marie-Pierre Audrézet, N. Remus, T. Nguyen Khoa, N. Wizla, F. Huet, C. Raynal, J. Brouard, Anne Munck, D. Cheillan, E. Girodon, M. Rota, Isabelle Sermet-Gaudelus, S. Bui, M Roussey, E. Deneuville
Publikováno v:
Perfectionnement en Pédiatrie. 2:163-171
Resume Le depistage neonatal (DNN) de la mucoviscidose, grâce a une prise en charge multidisciplinaire tres precoce des nourrissons, est optimal en termes de pronostic pour les patients. Depuis 20 ans, il a connu une expansion internationale spectac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9eef8728a6d273374d16d241094c0507
https://doi.org/10.1016/j.perped.2019.04.019
https://doi.org/10.1016/j.perped.2019.04.019
Autor:
Wilmel R. Cosme, Claude Férec, Ann Harris, Alekh Paranjapye, Johanna M. Rommens, Miyuki Nakakuki, Hiroshi Ishiguro, Sujana Ghosh, Marie-Pierre Audrézet, Jenny L. Kerschner
Publikováno v:
The Journal of Molecular Diagnostics. 21:70-80
It is estimated that up to 5% of cystic fibrosis transmembrane conductance regulator (CFTR) pathogenic alleles are unidentified. Some of these errors may lie in noncoding regions of the locus and affect gene expression. To identify regulatory element
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd288cb50123dd2fb533c0a62f907fee
https://doi.org/10.1016/j.jmoldx.2018.08.011
https://doi.org/10.1016/j.jmoldx.2018.08.011