Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Laetitia, Gouas"'
Autor:
Carole Goumy, Zangbéwendé Guy Ouedraogo, Elodie Bellemonte, Eleonore Eymard-Pierre, Gwendoline Soler, Isabelle Perthus, Céline Pebrel-Richard, Laetitia Gouas, Gaëlle Salaun, Lauren Véronèse, Hélène Laurichesse, Claude Darcha, Andrei Tchirkov
Publikováno v:
Diagnostics, Vol 13, Iss 23, p 3576 (2023)
Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analys
Externí odkaz:
https://doaj.org/article/1f9051c7cfc94d40ab7e9c4e7b697bb5
Autor:
Carole Goumy, Lauren Veronese, Rodrigue Stamm, Quentin Domas, Kamil Hadjab, Denis Gallot, Hélène Laurichesse, Amélie Delabaere, Laetitia Gouas, Gaelle Salaun, Céline Perbel-Richard, Philippe Vago, Andrei Tchirkov
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2022, ⟨10.1093/hmg/ddac054⟩
Human Molecular Genetics, 2022, 31 (16), pp.2669-2677. ⟨10.1093/hmg/ddac054⟩
Human Molecular Genetics, Oxford University Press (OUP), 2022, ⟨10.1093/hmg/ddac054⟩
Human Molecular Genetics, 2022, 31 (16), pp.2669-2677. ⟨10.1093/hmg/ddac054⟩
Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell proliferation necessary at this stage of development. Previous studies have shown that telomere shor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad4f8fc3225efeac5696f678b1b712b7
https://hal.uca.fr/hal-03737680
https://hal.uca.fr/hal-03737680
Publikováno v:
Morphologie. 106:S18-S19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2be21fed6aa00dc6d1788dfe60e353b4
https://doi.org/10.1016/j.morpho.2022.06.089
https://doi.org/10.1016/j.morpho.2022.06.089
Autor:
Laetitia Gouas, Nooshin Omar, Gaëlle Salaun, Sophie Besse, Eléonore Eymard-Pierre, Céline Pebrel-Richard, Carole Goumy, Philippe Vago
Publikováno v:
Morphologie. 106:S10-S11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a01100190342be38a72f7d508c4db3ab
https://doi.org/10.1016/j.morpho.2022.06.013
https://doi.org/10.1016/j.morpho.2022.06.013
Autor:
Carole Goumy, Claude Darcha, Hélène Laurichesse, Michaela West, Charles Poncet, Jérome Salse, Delphine Voisin, Gaëlle Salaun, Laetitia Gouas, Céline Pebrel-Richard, Lauren Véronèse, Andrei Tchirkov, Gwendoline Soler, Philippe Vago
Publikováno v:
Morphologie. 106:S8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2e5e7b8fbe7009ead1f3bbc8087a0c4
https://doi.org/10.1016/j.morpho.2022.06.008
https://doi.org/10.1016/j.morpho.2022.06.008
Autor:
Gaëlle Salaun, Eloïse Rodde, Fanny Laffargue, Eléonore Pierre, Carole Goumy, Laetitia Gouas, Christine Francannet, Philippe Vago, Céline Pebrel-Richard
Publikováno v:
Morphologie. 106:S18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0423a45ab9a9ce5d05aa75f3b371c687
https://doi.org/10.1016/j.morpho.2022.06.088
https://doi.org/10.1016/j.morpho.2022.06.088
Autor:
Laurent Gerbaud, Laetitia Gouas, Charline Mourgues, Anne Debost-Legrand, Philippe Vago, Céline Pebrel-Richard, Carole Goumy, Eleonore Eymard-Pierre, H. Laurichesse-Delmas
Publikováno v:
Annales de Biologie Clinique
Annales de Biologie Clinique, 2020, 78 (5), pp.483-491. ⟨10.1684/abc.2020.1580⟩
Annales de Biologie Clinique, John Libbey Eurotext, 2020, 78 (5), pp.483-491. ⟨10.1684/abc.2020.1580⟩
Annales de Biologie Clinique, 2020, 78 (5), pp.483-491. ⟨10.1684/abc.2020.1580⟩
Annales de Biologie Clinique, John Libbey Eurotext, 2020, 78 (5), pp.483-491. ⟨10.1684/abc.2020.1580⟩
Objective Principal objective of this work was to analyse the cost effectiveness of different sequences of cytogenetic techniques from the hospital's point of view, after prenatal ultrasound has identified fetal malformations. Methods Cytogenetic tes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b00194173ede4fedf70bf9196a5842
https://pubmed.ncbi.nlm.nih.gov/32933889
https://pubmed.ncbi.nlm.nih.gov/32933889
Autor:
Anne-Sophie Denommé-Pichon, Laetitia Gouas, Martin Chevarin, Marlène Rio, Elodie Gautier, Sonia Bouquillon, Nolwenn Jean-Marçais, Jennifer Fabre-Teste, Dominique Martin, Elise Schaefer, Fabienne Giuliano, Didier Lacombe, Sophie Nambot, Gaëlle Vieville, Sophie Blesson, Paul Kuentz, Christine Francannet, Yannis Duffourd, Aurélien Juven, Alice Masurel, Patrick Callier, Arnold Munnich, Salima El Chehadeh, Sophie Rondeau, Christophe Philippe, Amélie Piton, Fanny Laffargue, Catherine Vincent Delorme, Marie Vincent, Olivier Pichon, Bénédicte Gérard, Anne-Laure Mosca-Boidron, Bertrand Isidor, Christel Thauvin-Robinet, Laurence Perrin-Sabourin, Nathalie Marle, Cédric Le Caignec, Laurence Faivre, Hubert Journel, Klaus Dieterich
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
International audience; Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49416efdfdb6fb70d9dd48a27fb46e14
https://hal.archives-ouvertes.fr/hal-02883449
https://hal.archives-ouvertes.fr/hal-02883449
Autor:
Christine Francannet, Céline Pebrel-Richard, Amélie Delabaere, Laetitia Gouas, Mathis Lepage, Andrei Tchirkov, Florian Cherik, Philippe Vago, Ganaelle Remerand, Carole Goumy, Gaelle Salaun
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (9), pp.104287. ⟨10.1016/j.ejmg.2021.104287⟩
European Journal of Medical Genetics, Elsevier, 2021, 64 (9), pp.104287. ⟨10.1016/j.ejmg.2021.104287⟩
Background The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear. Case presentation We report two new cases of 860 kb deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3df479f0b5bae2ceaf6cf008dae345c0
https://doi.org/10.1016/j.ejmg.2021.104287
https://doi.org/10.1016/j.ejmg.2021.104287
Autor:
Eleonore Eymard-Pierre, Christine Francannet, Philippe Vago, Ganaelle Remerand, Céline Pebrel-Richard, Laetitia Gouas, Andrei Tchirkov, Gaelle Salaun, Amélie Delabaere, Carole Goumy, Florian Cherik, Mathis Lepage
Publikováno v:
Morphologie. 105:S19
Le syndrome microdeletionnel 10q26 correspond a un syndrome rare et cliniquement heterogene. La correlation genotype-phenotype reste aujourd’hui mal etablie. Nous rapportons deux nouvelles personnes (un garcon de 22 mois et sa mere) presentant une
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9db5d8514bae60ea1102eb3a7f11a966
https://doi.org/10.1016/j.morpho.2021.05.038
https://doi.org/10.1016/j.morpho.2021.05.038