Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Juliette Coursimault"'
Autor:
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenaël Le Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Grazia Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Hervé
Publikováno v:
European Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d439f0556d9b1ae7280f9ae1a933e4e5
https://doi.org/10.1038/s41431-023-01379-9
https://doi.org/10.1038/s41431-023-01379-9
Autor:
David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests that careg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70
https://doi.org/10.21203/rs.3.rs-2760508/v1
https://doi.org/10.21203/rs.3.rs-2760508/v1
Autor:
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenael Le Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Herve
Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well characterized. We sought to further character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1aaf6311267770c1208f5856d01852f
https://doi.org/10.21203/rs.3.rs-2126594/v1
https://doi.org/10.21203/rs.3.rs-2126594/v1
Autor:
Juliette Coursimault, Kévin Cassinari, François Lecoquierre, Olivier Quenez, Sophie Coutant, Céline Derambure, Myriam Vezain, Nathalie Drouot, Gabriella Vera, Elise Schaefer, Anaïs Philippe, Bérénice Doray, Laëtitia Lambert, Jamal Ghoumid, Thomas Smol, Mélanie Rama, Marine Legendre, Didier Lacombe, Patricia Fergelot, Robert Olaso, Anne Boland, Jean‐François Deleuze, Alice Goldenberg, Pascale Saugier‐Veber, Gaël Nicolas
Publikováno v:
Human mutationREFERENCES. 43(12)
Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA sequencing (RNA-seq) in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6f0d047ab046870fdf83cf3b6025ebe
https://pubmed.ncbi.nlm.nih.gov/35842780
https://pubmed.ncbi.nlm.nih.gov/35842780
Autor:
Juliette Coursimault, Anne Rovelet‐Lecrux, Kévin Cassinari, Elise Brischoux‐Boucher, Pascale Saugier‐Veber, Alice Goldenberg, François Lecoquierre, Nathalie Drouot, Anne‐Claire Richard, Gabriella Vera, Sophie Coutant, Olivier Quenez, Marion Rolain, Céline Bonnet, Myriam Bronner, Magalie Lecourtois, Gaël Nicolas
Publikováno v:
Human mutationREFERENCES. 43(9)
Cornelia de Lange syndrome (CdLS) is a clinically-recognizable rare developmental disorder. About 70% of patients carry a missense or loss-of-function pathogenic variant in the NIPBL gene. We hypothesized that some variants in the 5'-untranslated reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ee86f552550e3ed68ec8718b52f19b
https://pubmed.ncbi.nlm.nih.gov/35446447
https://pubmed.ncbi.nlm.nih.gov/35446447
Autor:
Marianne Begorre, Daniel Cailliez, Claire Beneteau, Pierre Chenal, Thierry Frebourg, Guillaume Benoist, François Lecoquierre, Raphaele Mangione, Florence Petit, Nicolas Gruchy, Louise Devisme, Sophie Patrier, Juliette Coursimault, Fanny Pelluard, Hubert Journel, Bénédicte Gérard, Marion Gérard, Pascale Saugier-Veber, Valérie Layet, Alain Liquier, Corinne Jeanne, Mirjam M. de Jong, Nadia Tillouche, Anne Bazin, Gaël Nicolas, Conny M. A. van Ravenswaaij-Arts, Anne-Claire Brehin, Wilfrid Finck, Sophie Coutant, Sophie Degre, Christine Francannet, Madeleine Joubert, Hélène Laurichesse Delmas
Publikováno v:
Human Mutation
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Full access; International audience; Sirenomelia is a rare severe malformation sequence of unknown cause characterized by fused legs and severe visceral abnormalities. We present a series of nine families including two rare familial aggregations of s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4f4809cccfe22a8f8d876db3d7e0573
https://hdl.handle.net/11370/0ac3ca3a-6458-40da-92ae-b9d82ef21217
https://hdl.handle.net/11370/0ac3ca3a-6458-40da-92ae-b9d82ef21217
Autor:
James W. Wheless, Thierry Frebourg, Robert Olaso, Rosemarie Smith, Kelly Nori, François Lecoquierre, Delphine Héron, Roseline Caumes, Anne Boland, Ange-Line Bruel, Candy Kumps, Gaël Nicolas, Sarah Stewart, Sophie Rondeau, Diane Doummar, Marlène Rio, Giulia Barcia, Anne-Marie Guerrot, Gwenaël Le Guyader, Alexandra Afenjar, Sarah Vergult, Karine Poirier, Juliette Coursimault, Jennifer Morrison, Amy Kritzer, Anne-Sophie Alaix, Rebecca Hernan, Anne-Sophie Denommé-Pichon, Sabine Sigaudy, Christine Coubes, Pascale Saugier-Veber, Francisca Millan Zamora, Austin Larson, Michelle M. Morrow, Christine Poitou, Björn Menten, Mathilde Nizon, Thomas Smol, Elise Schaefer, Bénédicte Gérard, Charles Coutton, Salima El Chehadeh, Fanggeng Zou, Stéphanie Valence, Anita Shanmugham, Wendy K. Chung, Bert Callewaert, Christina Kresge, Arnold Munnich, Beth A. Pletcher, Laurence Faivre, Estelle Colin, Laurence Colleaux, Patricia G Wheeler, Annelies Dheedene, Frédéric Tran Mau-Them, Jean-François Deleuze, Claude Houdayer, Jeanne Amiel, Frédéric Bilan, Marine Tessarech, Bertrand Isidor, Guillaume Jouret, Cyril Mignot, Benjamin Cogné, Shuxi Liu, Boris Keren, Françoise Devillard, Catherine Schramm, Margaret Helm
Publikováno v:
Human Genetics
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩
International audience; Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d62d99917d3e3b78e73c61b6c495303
https://hal.science/hal-03820933
https://hal.science/hal-03820933
Autor:
Juliette Coursimault, Alice Goldenberg, Gaël Nicolas, Pascale Saugier-Veber, Sophie Coutant, Anne Vincent, Dorothée Pouliquen, Cécile Feltin, Erfan Aref‐Eshghi, Bekim Sadikovic, François Lecoquierre
Publikováno v:
European Journal of Medical Genetics. 65:104556
KDM5C encodes a demethylase of the histone H3 lysine 4 residue, involved in chromatin regulation and gene expression. Hemizygous KDM5C pathogenic variants cause X-linked intellectual disability of Claes-Jensen type. Because of its mode of inheritance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df555c3e421dcdd30bb18d8a30d87523
https://doi.org/10.1016/j.ejmg.2022.104556
https://doi.org/10.1016/j.ejmg.2022.104556
Autor:
François Lecoquierre, Anne Boland, Valérie Drouin-Garraud, Gaël Nicolas, Thierry Frebourg, Juliette Coursimault, Jean-François Deleuze, J. Lechevallier, Anne-Claire Brehin, Pascale Saugier-Veber
Publikováno v:
European Journal of Medical Genetics. 64:104166
CHD3-related syndrome, also known as Snijders Blok-Campeau syndrome, is a rare developmental disorder described in 2018, caused by de novo pathogenic variants in the CHD3 gene. This syndrome is characterized by global developmental delay, speech dela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f4ab037a938e9f8f37c718386cd818a
https://doi.org/10.1016/j.ejmg.2021.104166
https://doi.org/10.1016/j.ejmg.2021.104166
Autor:
Nathalie Le Meur, Juliette Coursimault, Pascal Chambon, Thierry Frebourg, Géraldine Joly-Helas, Alain Diguet, Kévin Cassinari, Eric Verspyck, Bertrand Mace, Stéphanie Torre
Publikováno v:
Morphologie. 103:85-86
Les difficultes du depistage de la trisomie 21 sur ADN libre circulant (ADNlc) sont aujourd’hui bien connues, avec au premier plan un risque de resultats errones en cas de mosaique confinee au placenta, de mosaicisme maternel ou fœtal, de patholog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea369f01e29dbc5fdd37434c4ba03124
https://doi.org/10.1016/j.morpho.2019.10.024
https://doi.org/10.1016/j.morpho.2019.10.024