Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Audrey Briand"'
Autor:
Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, in
Externí odkaz:
https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e7
Autor:
Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O. Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschké, Florence Petit, Anne Dieux Coeslier, Eugénie Mutez, Alain Taieb, Mélanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Geneviève, Séverine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gaël Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Béatrice Parfait, Michel Vidaud, members of the NF France Network, Pierre Wolkenstein, Eric Pasmant
Publikováno v:
Cancers, Vol 13, Iss 12, p 2963 (2021)
Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but compreh
Externí odkaz:
https://doaj.org/article/36f1b663de7e4c819048016ce8b2c69a
Autor:
Laurence Pacot, Cyril Burin des Roziers, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Mayard, Camille Tlemsani, Laurence Faivre, Quentin Thomas, Diana Rodriguez, Sophie Blesson, Hélène Dollfus, Yvon-Gauthier Muller, Béatrice Parfait, Michel Vidaud, Brigitte Gilbert-Dussardier, Catherine Yardin, Benjamin Dauriat, Christian Derancourt, Dominique Vidaud, Eric Pasmant
Publikováno v:
Genes, Vol 10, Iss 9, p 633 (2019)
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one o
Externí odkaz:
https://doaj.org/article/ce9a3886345e4722af2f94fbdd2d87b6
Autor:
Joël Acker, Ngoc-Thuy-Trinh Nguyen, Marie Vandamme, Arounie Tavenet, Audrey Briand-Suleau, Christine Conesa
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e114587 (2014)
Sub1 and Maf1 exert an opposite effect on RNA polymerase III transcription interfering with different steps of the transcription cycle. In this study, we present evidence that Sub1 and Maf1 also exhibit an opposite role on yeast chronological life sp
Externí odkaz:
https://doaj.org/article/71fe30799e2c44e496351eefab49a89d
Autor:
Laurence Pacot, Valerie Pelletier, Albain Chansavang, Audrey Briand-Suleau, Cyril Burin des Roziers, Audrey Coustier, Theodora Maillard, Nicolas Vaucouleur, Lucie Orhant, Cécile Barbance, Alban Lermine, Nadim Hamzaoui, Djihad Hadjadj, Ingrid Laurendeau, Laïla El Khattabi, Juliette Nectoux, Michel Vidaud, Béatrice Parfait, Hélène Dollfus, Eric Pasmant, Dominique Vidaud
Publikováno v:
Human Genetics. 142:1-9
Autor:
Thomas Huby, Edouard Le Guillou, Cyril Burin des Roziers, Laurence Pacot, Audrey Briand-Suleau, Albain Chansavang, Aurélie Toussaint, Véronique Duchossoy, Nicolas Vaucouleur, Virginie Benoit, Laurence Lodé, Clémence Molac, Marie-Odile North, Sarah Grotto, Vassilis Tsatsaris, Anne Jouinot, Béatrix Cochand-Priollet, Anne-Cécile Paepegaey, Juliette Nectoux, Lionel Groussin, Eric Pasmant
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 107:e1367-e1373
Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity of MEN1 variants complexifies the selection of the patients likely to benefit
Autor:
María Jesús Lobón-Iglesias, Ingrid Laurendeau, Michel Vidaud, Laurence Brugières, Eric Pasmant, Léa Guerrini-Rousseau, Arnault Tauziède-Espariat, Pascale Varlet, Audrey Briand-Suleau, Dominique Vidaud, Jacques Grill
Publikováno v:
Neuro-oncology Advances
Background Pediatric neurofibromatosis type 1 (NF1)–associated optic pathway gliomas (OPGs) exhibit different clinico-radiological features, treatment, and outcome compared with sporadic OPGs. While NF1-associated OPGs are caused by complete loss-o
Autor:
Laure Lecerf, Irina Giurgea, Quitterie Laudouar, Audrey Briand, Sophie Brisset, Solveig Heide, Aurélie Mouka, G Tachdjian, Lionel Van Maldergem, Michel Goossens, Corinne Metay, Loïc Drévillon, Valérie Ortonne, Lucie Tosca, Virginie Benoit
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. In press, pp.e1645. ⟨10.1002/mgg3.1645⟩
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. In press, pp.e1645. ⟨10.1002/mgg3.1645⟩
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Background Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, interstitia
Autor:
Serge Amselem, Irina Giurgea, Thierry Gaillon, Fabienne Giuliano, Michel Goossens, Jamal Ghoumid, Damien Haye, H. Jacquemin-Sablon, Loïc Drévillon, Thierry Bienvenu, V. Nau, E. El Khouri, Audrey Briand-Suleau, P. De La Grange
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-021-01072-7⟩
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-021-01072-7⟩
Among the genetic factors playing a key role in the etiology of intellectual disabilities (IDs) and autism spectrum disorders (ASDs), several encode RNA-binding proteins (RBPs). In this study, we deciphered the molecular and cellular bases of ID-ASD
Autor:
Laurence Cuisset, Nathalie Carion, Laurence Pacot, Alexandra Afenjar, Thierry Bienvenu, Audrey Briand
Publikováno v:
Gene
Gene, Elsevier, 2020, 753, pp.144793-. ⟨10.1016/j.gene.2020.144793⟩
Gene, Elsevier, 2020, 753, pp.144793-. ⟨10.1016/j.gene.2020.144793⟩
Background Fragile X syndrome (FXS) is a monogenic disorder and a common cause of intellectual disability (ID). Up to now, very few pathological variants other than the typical CGG-repeat expansion have been reported in the FMR1 gene. Methods A panel