Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Christèle, Dubourg"'
Autor:
Hélène Guyodo, Aurélie Rizzo, Farah Diab, Fanny Noury, Svetlana Mironov, Marie deTayrac, Véronique David, Sylvie Odent, Christèle Dubourg, Valérie Dupé
Publikováno v:
Clinical and Experimental Dental Research, Vol 10, Iss 2, Pp n/a-n/a (2024)
Abstract Objectives The main objective of this study was to evaluate how an apparently minor anomaly of the sphenoid bone, observed in a haploinsufficient mouse model for Sonic Hedgehog (Shh), affects the growth of the adult craniofacial region. This
Externí odkaz:
https://doaj.org/article/9f817027ba4f4d8596655031e464b6ae
Autor:
Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101469- (2024)
Externí odkaz:
https://doaj.org/article/0bcd695479904c01b8c45291edea92ee
Autor:
Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OM
Externí odkaz:
https://doaj.org/article/4593e6258ee746c78872071719392347
Autor:
Camille Tron, Régis Bouvet, Marie-Clémence Verdier, Fabien Lamoureux, Benjamin Hennart, Christèle Dubourg, Eric Bellissant, Marie-Dominique Galibert
Publikováno v:
Pharmaceuticals, Vol 15, Iss 5, p 637 (2022)
In the field of pharmacogenetics, the trend is to analyze a panel of several actionable genetic polymorphisms. It may require the use of high-throughput sequencing which demands expensive reagents/instruments and specific skills to interpret results.
Externí odkaz:
https://doaj.org/article/168123fc831e4f958b1c71211710a678
Autor:
Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100621- (2020)
Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including
Externí odkaz:
https://doaj.org/article/01d981b45edc49e59f73a5858b0b787c
Autor:
Katell Peoc'h, Léna Damaj, Romain Pelletier, Charles Lefèvre, Christèle Dubourg, Marie-Christine Denis, Claude Bendavid, Sylvie Odent, Caroline Moreau
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
N-acetyl glutamate synthase (NAGS) deficiency is the rarest urea cycle defect presenting as neonatal onset life-threatening hyperammonemia. We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, on
Externí odkaz:
https://doaj.org/article/beaa833c383348508cdbfe98ea47419f
Autor:
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine AUDEBERT-BELLANGER, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noelle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux Coeslier, Christèle Dubourg, Patrick Edery, salima EL CHEHADEH, Laurence Faivre, Mélanie FRADIN, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Ines HARZALLAH, Delphine Héron, Bertrand Isidor, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaetan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent PASQUIER, Laurine Perrin, Florence Petit, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quelin, Sylvia Quemener, Mélanie Rama, Marlène RIO, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale SAUGIER-VEBER, Thomas Smol, Sabine Sigaudy, Renaud TOURAINE, Frédéric Tran-Mau-Them, Aurélien Trimouille, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c59bc993669dbcd0685342c07953eee
https://doi.org/10.21203/rs.3.rs-2924104/v1
https://doi.org/10.21203/rs.3.rs-2924104/v1
Autor:
Auriane Cospain, Marie Faoucher, Aurélie Cauchois, Wilfrid Carre, Chloé Quelin, Christèle Dubourg
Publikováno v:
Pediatric and developmental pathology
Pediatric and developmental pathology, 2022, 25 (5), pp.548-552. ⟨10.1177/10935266221095305⟩
Pediatric and developmental pathology, 2022, 25 (5), pp.548-552. ⟨10.1177/10935266221095305⟩
International audience; Holoprosencephaly (HPE) is a clinically and genetically heterogeneous disease, which can be associated with various prenatal comorbidities not always detectable on prenatal ultrasound. We report on the case of a foetus carryin
Publikováno v:
Pediatric Dermatology
Pediatric Dermatology, 2022, 39 (3), pp.434-437. ⟨10.1111/pde.14969⟩
Pediatric Dermatology, 2022, 39 (3), pp.434-437. ⟨10.1111/pde.14969⟩
International audience; Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations. Here, we report a
Autor:
Delphine Leclerc, Louise Goujon, Sylvie Jaillard, Bénédicte Nouyou, Laurence Cluzeau, Léna Damaj, Christèle Dubourg, Amandine Etcheverry, Thierry Levade, Roseline Froissart, Stéphane Dréano, Xavier Guillory, Leif A Eriksson, Erika Launay, Frédéric Mouriaux, Marc-Antoine Belaud-Rotureau, Sylvie Odent, David Gilot
Publikováno v:
The Crispr Journal
The Crispr Journal, 2023, 6 (1), pp.17-31. ⟨10.1089/crispr.2022.0045⟩
CRISPR J
The Crispr Journal, 2023, 6 (1), pp.17-31. ⟨10.1089/crispr.2022.0045⟩
CRISPR J
International audience; Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in GLB1 gene. These variants result in reduced β-galactosidase (β-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b4ea2bda2e416e0b000fd920fdf430b
https://hal.science/hal-03968195
https://hal.science/hal-03968195