Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination

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

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

Autor: Stephan Kemeny, Florence Brugnon, Eléonore Eymard-Pierre, Carole Goumy, Laurent Janny, Andreï Tchirkov, Christine Francannet, Philippe Vago, Céline Pebrel-Richard

Publikováno v: Asian Journal of Andrology, Vol 19, Iss 1, Pp 135-137 (2017)

Externí odkaz: https://doaj.org/article/847bb0d9f0c94a2ab5bf441535e82510

Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?

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⟩

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

Comparaison de deux méthodes de décellularisation pour l’obtention d’une matrice extracellulaire sécrétée in vitro

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

Faisabilité de la cartographie optique en prénatal et en fœtopathologie : évaluation de l’extraction d’ADN de haut poids moléculaire pour différents types de matrices

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