Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Camille Verebi"'
Autor:
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-16 (2023)
Abstract SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) alt
Externí odkaz:
https://doaj.org/article/6a70fd35d3034a74859689ebbe00f9a6
Autor:
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Publikováno v:
PLoS ONE, Vol 18, Iss 4, p e0280976 (2023)
Non-invasive prenatal diagnosis of single-gene disorders (SGD-NIPD) has been widely accepted, but is mostly limited to the exclusion of either paternal or de novo mutations. Indeed, it is still difficult to infer the inheritance of the maternal allel
Externí odkaz:
https://doaj.org/article/924e81eb10694715866e532df5d26618
Autor:
Sophie Brouillet, Sandie Mereuze, Noémie Ranisavljevic, Claire Chauveau, Samir Hamamah, Julie Cattin, Camille Verebi, Christelle Cabrol, Aliya Ishmukhametova, Anne Girardet, Tal Anahory, Marjolaine Willems
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10835 (2022)
Preimplantation genetic testing (PGT) is widely used to select unaffected embryos, increasing the odds of having a healthy baby. During the last few decades, it was accepted that monozygotic dichorionic diamniotic twin pregnancies occurred from the e
Externí odkaz:
https://doaj.org/article/04129fbb516e4118b69ae08357a4a1b3
Autor:
Camille Verebi, Roseline Caumes, Sandra Chantot-Bastaraud, Nathalie Deburgrave, Lucie Orhant, Nicolas Vaucouleur, Laurence Cuisset, Thierry Bienvenu, France Leturcq, Juliette Nectoux
Publikováno v:
Neuromuscular Disorders. 33:367-370
Autor:
Mathilde Pacault, Camille Verebi, Maureen Lopez, Nicolas Vaucouleur, Lucie Orhant, Nathalie Deburgrave, France Leturcq, Dominique Vidaud, Emmanuelle Girodon, Thierry Bienvenu, Juliette Nectoux
Publikováno v:
Obstetrical & Gynecological Survey. 78:204-206
Autor:
Edouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, Céline Tard, Maud Michaud, Rocio Nur Villar Quiles, Savine Vicart, Marion Masingue, Robert‐Yves Carlier, Norma Beatriz Romero, Emmanuelle Lacene, France Leturcq, Bruno Eymard, Pascal Laforêt, Tanya Stojkovic
Publikováno v:
European Journal of Neurology.
Autor:
Maria João Pinto, Yves Fromes, Isabelle Ackermann-Bonan, France Leturcq, Camille Verebi, Norma B. Romero, Tanya Stojkovic
Publikováno v:
Journal of neuromuscular diseases. 9(5)
Emery-Dreifuss Muscular Dystrophy (EDMD) is an early-onset, slowly-progressive group of myopathies, presenting with joint contractures, muscle weakness and cardiac abnormalities. Variants in the EMD gene cause an X-linked recessive form (EDMD1). The
Autor:
Camille Verebi, Juliette Nectoux, Philip Gorwood, Yann Le Strat, Philibert Duriez, Nicolas Ramoz, Thierry Bienvenu
Publikováno v:
Progress in Neuro-Psychopharmacology and Biological Psychiatry. 125:110770
Autor:
Mathilde Pacault, Camille Verebi, Maureen Lopez, Nicolas Vaucouleur, Lucie Orhant, Nathalie Deburgrave, France Leturcq, Dominique Vidaud, Emmanuelle Girodon, Thierry Bienvenu, Juliette Nectoux
Publikováno v:
BJOG : an international journal of obstetrics and gynaecologyREFERENCES. 129(11)
Cell-free fetal DNA (cffDNA) analysis is performed routinely for aneuploidy screening, RhD genotyping or sex determination. Although applications to single gene disorders (SGD) are being rapidly developed worldwide, only a few laboratories offer cffD
Publikováno v:
Annales de Biologie Clinique. 77:397-406
Immunoglobulin light chains are called free when they are not linked with heavy chains to form a whole immunoglobulin. Quantification of free light chains is a part of the French national authority for health guidelines for diagnostic and follow-up o