Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Caroline Michot"'
Autor:
David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understoo
Externí odkaz:
https://doaj.org/article/aa57b9a4fd8f45b48190bef9b77eba66
Autor:
Malika Foy, Philippe De Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, Corine Gartioux, Fabrice Gillas, Nawel Miri, Valérie Jobic, Ahmed Mekki, Pascale Richard, Caroline Michot, Karelle Benistan
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract COL1‐related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providi
Externí odkaz:
https://doaj.org/article/bc9b9c0659c04f07a950e25423c47d42
Autor:
Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)
Abstract Background Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP preva
Externí odkaz:
https://doaj.org/article/fa5789982ed84d569627d031e2a90e77
Autor:
Marion, Aubert-Mucca, Céline, Huber, Genevieve, Baujat, Caroline, Michot, Mohammed, Zarhrate, Marc, Bras, Lucile, Boutaud, Valérie, Malan, Tania, Attie-Bitach, Khaloua, Zaafrane
Publikováno v:
Journal of Medical Genetics. 60:337-345
BackgroundEllis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib–polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high deg
Autor:
Marion Aubert‐Mucca, Caroline Janel, Valérie Porquet‐Bordes, Olivier Patat, Renaud Touraine, Thomas Edouard, Caroline Michot, Aude Tessier, Valérie Cormier‐Daire, Tania Attie‐Bitach, Geneviève Baujat
Publikováno v:
Clinical Genetics.
Autor:
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC , has been found mutated in Taybi-Linder (TALS/microcephalic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff8ec8d20ada31707836e9ec93fa4cca
https://univ-rennes.hal.science/hal-04021151
https://univ-rennes.hal.science/hal-04021151
Autor:
Carole Faviez, Marc Vincent, Nicolas Garcelon, Caroline Michot, Genevieve Baujat, Valerie Cormier-Daire, Sophie Saunier, Xiaoyi Chen, Anita Burgun
Publikováno v:
Challenges of Trustable AI and Added-Value on Health
Challenges of Trustable AI and Added-Value on Health, 294, IOS Press; IOS Press, pp.844-848, 2022, Studies in Health Technology and Informatics, ⟨10.3233/SHTI220604⟩
Challenges of Trustable AI and Added-Value on Health, IOS Press, 2022, Studies in Health Technology and Informatics, ⟨10.3233/SHTI220604⟩
Challenges of Trustable AI and Added-Value on Health, 294, IOS Press; IOS Press, pp.844-848, 2022, Studies in Health Technology and Informatics, ⟨10.3233/SHTI220604⟩
Challenges of Trustable AI and Added-Value on Health, IOS Press, 2022, Studies in Health Technology and Informatics, ⟨10.3233/SHTI220604⟩
International audience; The wide adoption of Electronic Health Records (EHR) in hospitals provides unique opportunities for high throughput phenotyping of patients. The phenotype extraction from narrative reports can be performed by using either dict
Autor:
Sophie Rondeau, Lucie Griffon, Geneviève Baujat, Duy Bo Nguyen, Valérie Cormier-Daire, Pauline Marzin, Michel Zerah, Sonia Khirani, Romain Luscan, Vincent Couloigner, Caroline Michot, Brigitte Fauroux, Zagorka Pejin
Publikováno v:
American Journal of Medical Genetics Part A. 185:2108-2118
Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spon
Autor:
Damien Bonnet, Valérie Cormier-Daire, Briac Thierry, Zagorka Pejin, Caroline Michot, Christophe Delacourt, Maryse Bonnière, Muriel Le Bourgeois, Pauline Marzin, Gilles Phan, Sophie Rondeau, Andrea Dancasius, Diala Khraiche, Geneviève Baujat, Anne Cavau
Publikováno v:
Genetics in Medicine. 23:331-340
Purpose Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in the FBN1
Autor:
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Sarah Grotto, Lyse Ruaud, Caroline Michot, Martin Castelle, Agnès Guët, Laurent Guibaud, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Tania Attié-Bitach, Patrick Edery, Sylvie Mazoyer, Marion Delous
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene,RNU4ATAC, has been found mutated in Taybi-Linder (MOPD1/TALS), Roifman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d73912952aca0e6d7322911d9b0fce9c
https://doi.org/10.1101/2021.12.12.21266616
https://doi.org/10.1101/2021.12.12.21266616