Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Julie Bouron"'
Autor:
Bruno Schaub, Jérôme Toutain, Nada Houcinat, Didier Lacombe, Clara Adenet, Anna-Gaelle Valard, Michèle Gueneret, Marie-Laure Vuillaume, S. Deves, Julie Bouron, Cécile Boucher, Caroline Rooryck
Publikováno v:
Clinical Dysmorphology. 26:231-234
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723b16aeb9c61a505a81f2772f8b7b19
https://doi.org/10.1097/mcd.0000000000000192
https://doi.org/10.1097/mcd.0000000000000192
Autor:
Patricia Fergelot, Perrine Pennamen, Angèle Tingaud-Sequeira, Caroline Rooryck, Aurélien Trimouille, Cécile Boucher, Didier Lacombe, Julie Bouron, Gwenaelle André, Benoit Arveiler
The organization of mammalian genomes into sub-megabase sized Topologically Associated Domains (TADs) has recently been revealed by techniques derived from Chromosome Conformation Capture (3 C), such as High Chromosome Contact map (Hi-C). Disruption
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac1bd8f07fd55c74ac655f28985aaca
https://europepmc.org/articles/PMC6460562/
https://europepmc.org/articles/PMC6460562/
Autor:
Rodrigue Rossignol, Isabelle Coupry, Michel Koenig, Magalie Barth, Cyril Goizet, Nadège Bellance, Dominique Bonneau, Agnès Guichet, Diana Rodriguez, Christelle M. Durand, Nada Houcinat, Julie Bouron, Sébastien Moutton, Julie Lavie, Sandra Chantot-Bastaraud, Julie Pilliod, Alexandra Durr, Karine Nguyen, Alexis Brice, Didier Hannequin, Giovanni Benard, Mathieu Anheim, Perrine Charles, Christel Thauvin-Robinet, Alexandra Afenjar, Elise Maurat, Guillaume Fromager, Patrick Berquin, Didier Lacombe, Caroline Rooryck, Dan Milea, Sylvie Forlani, Philippe Convers, Elisabeth Maillart, Christophe Verny, Stéphanie Valence, Julien Van-Gils, Fanny Mochel, Christophe Hubert, Giovanni Stevanin, Lucie Guyant-Maréchal, Lydie Burglen, Gaetan Lesca
Publikováno v:
Annals of Neurology. 78:871-886
Objective Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of numerous protein domains and the recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77d8d717e293a2894b2671b2288cd457
https://doi.org/10.1002/ana.24509
https://doi.org/10.1002/ana.24509
Autor:
Didier Lacombe, Isabelle Kieffer, Caroline Rooryck, Anja Knoll-Gellida, Laurence Bouneau, Fabienne Nacka, Béatrice Jouret, Sophie Julia, Georges Bourrouillou, Marie-Laure Vuillaume, Adeline Vigouroux, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, David Geneviève, Jérôme Toutain, Sophie Naudion, Maithé Tauber, Pierre Sarda, Julie Bouron, Benoit Arveiler, Pascal Barat, Patrick J. Babin, Laurence Faivre, Marie-Ange Delrue, Eric Bieth, Dorothée Cailley
Publikováno v:
American Journal of Medical Genetics Part A. 164:1965-1975
Syndromic obesity is defined by the association of obesity with one or more feature(s) including developmental delay, dysmorphic traits, and/or congenital malformations. Over 25 syndromic forms of obesity have been identified. However, most cases rem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e02004af976fb5942fe061721341d084
https://doi.org/10.1002/ajmg.a.36587
https://doi.org/10.1002/ajmg.a.36587
Autor:
Cyril Goizet, Marc Planes, Julie Bouron, Benoit Arveiler, Caroline Rooryck, Didier Lacombe, Lucie Besnard, Marie-Laure Vuillaume
Publikováno v:
European Journal of Paediatric Neurology. 19:271-273
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ef3fcd7803a1cdc5611155e3afa282a
https://doi.org/10.1016/j.ejpn.2014.11.013
https://doi.org/10.1016/j.ejpn.2014.11.013
Autor:
Aurélien Trimouille, Julie Bouron, Perrine Pennamen, Didier Lacombe, Benoit Arveiler, Gwenaelle André, Caroline Rooryck-Thambo, Patricia Fergelot, Angèle Tingaud-Sequeira
Publikováno v:
Morphologie. 102:141
Introduction/Objectifs L’etude de l’architecture tridimensionnelle de la chromatine par la technologie de Hi-C, derivee de la Chromosome Conformation Capture (3C), a mis en lumiere l’existence de domaines chromatiniens denommes topologically as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3935bae20b1022c9901e34bc1f0b0313
https://doi.org/10.1016/j.morpho.2018.07.125
https://doi.org/10.1016/j.morpho.2018.07.125
Autor:
Pierre Sarda, Guilhem Solé, Fabienne Giuliano, Cyril Goizet, Marie-Ange Delrue, Eva-Lena Stattin, Patricia Fergelot, Nada Houcinat, Hubert Journel, Jacqueline Vigneron, Elisabeth Sarrazin, Benoit Arveiler, S. Deves, Laurence Faivre, Albert David, Clarisse Baumann, Martine Le Merrer, Caroline Abadie, Caroline Rooryck, Elodie Guerineau, Sophie Naudion, Marie-Laure Vuillaume, Nicolas Chassaing, Julie Bouron, Sébastien Moutton, Isabelle Coupry, David Geneviève, Marie-Pierre Cordier, Julie Deforges, Christine Francannet, Didier Lacombe, Danielle Leclair, André Mégarbané, Christophe Hubert
Publikováno v:
Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2016, 61 (8), pp.693-699. ⟨10.1038/jhg.2016.37⟩
Journal of Human Genetics, Nature Publishing Group, 2016, 61 (8), pp.693-699. ⟨10.1038/jhg.2016.37⟩
International audience; Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c69f669f22ba820996b0195e536624fa
https://pubmed.ncbi.nlm.nih.gov/27193221
https://pubmed.ncbi.nlm.nih.gov/27193221
Autor:
Caroline Rooryck, Cyril Goizet, Aurore Brun, Benoit Arveiler, Julie Bouron, Didier Lacombe, Jérôme Toutain, Dorothée Cailley
Publikováno v:
European journal of medical genetics. 55(2)
We report on a boy presenting with features of OAVS (Oculoauriculovertebral spectrum) and carrying a 1.5 Mb microdeletion in 15q24.1q24.2. This recurrent deletion usually leads to a broad clinical spectrum but has never been found associated with fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ef9e5581d4e53221b3aabe24d814fe
https://pubmed.ncbi.nlm.nih.gov/22198201
https://pubmed.ncbi.nlm.nih.gov/22198201
Autor:
Frédéric Villega, Benoit Arveiler, Julie Bouron, Cyril Goizet, Sébastien Moutton, Emmanuelle Taupiac, Jérôme Toutain, Didier Lacombe, Dorothée Cailley, Caroline Rooryck
Publikováno v:
European journal of medical genetics. 55(2)
We report a 19 year-old patient carrying a terminal 20p microdeletion. She displayed clinical features resembling those of two other previously described patients. We suggest that a specific phenotype can be associated with this chromosomal anomaly.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c498f0ab4b12f371b12b7b0fcfcfad9e
https://pubmed.ncbi.nlm.nih.gov/22274139
https://pubmed.ncbi.nlm.nih.gov/22274139
Autor:
Marie-Ange Delrue, Benoit Arveiler, Sandrine Marlin, Feclad Didier Lacombe, Cyril Goizet, Dorothée Cailley, Julie Bouron, Noui Souakri, Caroline Rooryck
Publikováno v:
American journal of medical genetics. Part A. (8)
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9711a9115ea00b306344018ba0fecf59
https://pubmed.ncbi.nlm.nih.gov/20635336
https://pubmed.ncbi.nlm.nih.gov/20635336