Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Aude Tessier"'
Autor:
Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Mélanie Parisot, Meriem Garfa-Traoré, Amale Ichkou, Nadia Elkhartoufi, Christine Bole, Patrick Nitschke, Jeanne Amiel, Jelena Martinovic, Férechté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently known to be causally involved in hydrocephalus, either isolated or as a common clinica
Externí odkaz:
https://doaj.org/article/65035ff74ed64b7aa3c473b2f4822c5d
Autor:
Lucile Boutaud, Benedetta Ruzzenente, Aude Tessier, Olivia Anselem, Emmanuelle Pannier, Sarah Grotto, Naïma Talhi, Daniel Amram, Marjolaine Willems, Constance Wells, Patricia Blanchet, Yuri Musizzano, Clémence Jauny, Patrick Nitschke, Christine Bole-Feysot, Bettina Bessières, Houria Salhi, Amale Achaiaa, Metodi D Metodiev, Ferechte Razavi, Agnès Rötig, Laurence Loeuilllet, Tania Attié-Bitach
Publikováno v:
Brain. 146:1804-1811
Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes essential for mitochondrial physiology. However
Autor:
Marion Aubert‐Mucca, Caroline Janel, Valérie Porquet‐Bordes, Olivier Patat, Renaud Touraine, Thomas Edouard, Caroline Michot, Aude Tessier, Valérie Cormier‐Daire, Tania Attie‐Bitach, Geneviève Baujat
Publikováno v:
Clinical Genetics.
Autor:
Cécile Masson, Arnaud Molin, Clarisse Billon, Agnès Liard, Lucile Boutaud, Sabine Sigaudy, Sophie Thomas, Eglantine Magnin, Radia Fritih, Valérie Layet, Maryse Bonnière, Yves Ville, Alix Clemenson, Alain Diguet, Philippe Roth, Coralie Dauge, Sophie Patrier, John Rendu, Julia Tantau, Bettina Bessières, Alice Goldenberg, Leila Hakkakian, Céline Poirsier, Tania Attié-Bitach, Ferechté Razavi, Clémence Fleury, Eric Verspyck, Nadia Elkhartoufi, Maude Grelet, Amale Achaiaa, Fabienne Prieur, Christine Bole-Feysot, Aude Tessier
Publikováno v:
Clinical Genetics. 98:261-273
Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large non-obstructed urinary bladder, a microcolon and intestinal hypo- or aperistalsis. Most
Autor:
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Genevieve, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, OIivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon
BackgroundDespite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802e35e0415f3246533a03d287191c78
https://doi.org/10.1101/2021.10.14.21264732
https://doi.org/10.1101/2021.10.14.21264732
Autor:
Brigitte Leroy, Homa Adle-Biassette, Frédéric Causeret, Houria Salhi, Jelena Martinovic, Bettina Bessières, Selima Ben Miled, Férechté Encha-Razavi, Yoann Saillour, Julie Bruneau, Syril James, Jean-Paul Duong Van Huyen, Laurence Loeuillet, Julien Stirnemann, Maryse Bonnière-Darcy, Amel Sekour, Yves Ville, Aude Tessier, Tania Attié-Bitach, Julia Tantau
Publikováno v:
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
American Journal of Obstetrics and Gynecology, Elsevier, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
American Journal of Obstetrics and Gynecology, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
American Journal of Obstetrics and Gynecology, Elsevier, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
International audience; Background: Despite undisputable benefits, midtrimester prenatal surgery is not a cure for myelomeningocele (MMC): residual intracranial and motor deficits leading to lifelong handicap question the timing of prenatal surgery.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d88cfe29c8313ae4f6919f00a2d58a4
https://hal.science/hal-03492427
https://hal.science/hal-03492427
Autor:
Aude Tessier, Férechté Encha-Razavi, Judite de Oliveira, Christel Thauvin-Robinet, Marie-Paule Beaujard, Valérie Malan, Philippe Roth, Bettina Bessières, Julie Steffann, Ange-Line Bruel, Laurence Faivre, Tania Attié-Bitach, Lucile Boutaud, Amale Achaiaa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9047e0d7fbe060c2f0e8d74c323f6cd
https://doi.org/10.1111/cge.13840/v2/response1
https://doi.org/10.1111/cge.13840/v2/response1
Autor:
Philippe Roth, Ange-Line Bruel, Aude Tessier, Tania Attié-Bitach, Laurence Faivre, Férechté Encha-Razavi, Julie Steffann, Christel Thauvin-Robinet, Judite de Oliveira, Amale Achaiaa, Lucile Boutaud, Marie-Paule Beaujard, Valérie Malan, Bettina Bessières
Publikováno v:
Clinical geneticsREFERENCES. 98(6)
We report two fetal cases carrying a de novo MID1 mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome.
Autor:
Nadia Bahi-Buisson, Camille Maillard, Tania Attié-Bitach, Fabien Guimiot, Aude Tessier, Annie Laquerrière, Séverine Drunat, Yline Capri, Nina-Maria Wilpert, Florent Marguet, Ferechté Razavi, Jelena Martinovic
Publikováno v:
European Journal of Medical Genetics. 64:104282
The Forkhead transcription factor FOXG1 is a prerequisite for telencephalon development in mammals and is an essential factor controlling expansion of the dorsal telencephalon by promoting neuron and interneuron production. Heterozygous FOXG1 gene mu
Autor:
Myriam Oufadem, Thierry Bienvenu, Norine Voisin, Aude Tessier, Jeanne Amiel, Alice Goldenberg, Stanislas Lyonnet, L. de Pontual, Veronique Pingault, Christopher T. Gordon, Z. Demir
Publikováno v:
Clinical Genetics. 93:356-359
Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this path