Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Laetitia Lambert"'
Autor:
Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organiz
Externí odkaz:
https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd
Autor:
Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findlinki, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi
Publikováno v:
EBioMedicine, Vol 84, Iss , Pp 104246- (2022)
Summary: Background: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single famil
Externí odkaz:
https://doaj.org/article/617ed46466844b7380f9a8115b51a419
Autor:
Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Bardet–Biedl syndrome (BBS) is a multisystemic disorder characterized by rod–cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malfor
Externí odkaz:
https://doaj.org/article/d57fb7ce797d411e82a45357c1974eb9
Autor:
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspe
Externí odkaz:
https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582e
Autor:
Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A. Levy, Mariëlle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David A. Koolen, Rolph Pfundt, Anna C. E. Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M. A. M. Mannens, Bekim Sadikovic, Peter Henneman, Mieke M. van Haelst
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 14, p 8001 (2022)
JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial fea
Externí odkaz:
https://doaj.org/article/eb24dc9067e04b99b978e8893b3f211c
Autor:
Matthieu Dap, Hélène Harter, Laetitia Lambert, Estelle Perdriolle-Galet, Céline Bonnet, Olivier Morel
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 35:10384-10387
To evaluate the contribution of genetic investigations in case of isolated bilateral clubfoot detected by routine prenatal ultrasound. Pathogenic Copy Number Variations is about 3.9% in fetuses with isolated clubfoot (uni- or bilateral). We hypothesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f522796bd8a7fe87e0346cafbc028482
https://doi.org/10.1080/14767058.2022.2128654
https://doi.org/10.1080/14767058.2022.2128654
Autor:
Armand Hocquel, Jean-Marie Ravel, Laetitia Lambert, Céline Bonnet, Guillaume Banneau, Bophara Kol, Laurène Tissier, Lucie Hopes, Mylène Meyer, Céline Dillier, Maud Michaud, Arnaud Lardin, Anne-Laure Kaminsky, Emmanuelle Schmitt, Liang Liao, François Zhu, Bronner Myriam, Carine Bossenmeyer-Pourié, Antoine Verger, Mathilde Renaud
Publikováno v:
neurogenetics. 23:241-255
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfa4a407188de1cb03a8ad1a498396f6
https://doi.org/10.1007/s10048-022-00695-4
https://doi.org/10.1007/s10048-022-00695-4
Autor:
Marie-Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Céline D’ Almeida, Claire-Marine Berat, Chloé Durrleman, Caroline Espil, Laetitia Lambert, Cécile Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian I. Rice, Luis Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader-Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J. Crow, Bénédicte Neven
Publikováno v:
Frémond, M-L, Hully, M, Fournier, B, Barrois, R, Lévy, R, Aubart, M, Castelle, M, Chabalier, D, Gins, C, Sarda, E, Al Adba, B, Couderc, S, D'Almeida, C, Berat, C-M, Durrleman, C, Espil, C, Lambert, L, Meni, C, Perivier, M, Pillet, P, Polivka, L, Schiff, M, Todosi, C, Uettwiller, F, Lepelley, A, Rice, G I, Seabra, L, Sanquer, S, Hulin, A, Pressiat, C, Goldwirt, L, Bondet, V, Duffy, D, Moshous, D, Bader-Meunier, B, Bodemer, C, Robin-Renaldo, F, Boddaert, N, Blanche, S, Desguerre, I, Crow, Y J & Neven, B 2023, ' JAK inhibition in Aicardi-Goutières syndrome: a monocentric multidisciplinary real-world approach study ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-023-01500-z
Journal of Clinical Immunology
Journal of Clinical Immunology, 2023, ⟨10.1007/s10875-023-01500-z⟩
Journal of Clinical Immunology
Journal of Clinical Immunology, 2023, ⟨10.1007/s10875-023-01500-z⟩
The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d11f3ba2d92b02045d598c8be04f08
https://www.pure.ed.ac.uk/ws/files/342033048/Cohort_MAIN_R1_vDEF_Unmarked.docx
https://www.pure.ed.ac.uk/ws/files/342033048/Cohort_MAIN_R1_vDEF_Unmarked.docx
Autor:
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Publikováno v:
European Journal of Human Genetics. 30:967-975
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES inter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b31117fffc3771efb6e81b39d2db9b0
https://doi.org/10.1038/s41431-022-01117-7
https://doi.org/10.1038/s41431-022-01117-7
Autor:
Penelope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière, Carole Tournant, Marie‐Pierre Audrezet, Laurence Michel‐Calemard, Audrey Putoux, Gaethan Lesca, Audrey Labalme, Sandra Whalen, Laurence Loeuillet, Jelena Martinovic, Tania Attie‐Bitach, Bettina Bessières, Elise Schaefer, Sophie Scheidecker, Laetitia Lambert, Claire Beneteau, Olivier Patat, Odile Boute‐Benejean, Arnaud Molin, Fabien Guimiot, Nicolas Fontanarosa, Mathilde Nizon, Mathilde Lefebvre, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet
Publikováno v:
Human Mutation. 43:347-361
We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42230c7fb17240866106371d026ef7f9
https://doi.org/10.1002/humu.24324
https://doi.org/10.1002/humu.24324