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Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. 1367, doi. 10.1210/clinem/dgab894
By:
- Huby, Thomas;
- Guillou, Edouard Le;
- des Roziers, Cyril Burin;
- Pacot, Laurence;
- Briand-Suleau, Audrey;
- Chansavang, Albain;
- Toussaint, Aurélie;
- Duchossoy, Véronique;
- Vaucouleur, Nicolas;
- Benoit, Virginie;
- Lodé, Laurence;
- Molac, Clémence;
- North, Marie-Odile;
- Grotto, Sarah;
- Tsatsaris, Vassilis;
- Jouinot, Anne;
- Cochand-Priollet, Béatrix;
- Paepegaey, Anne-Cécile;
- Nectoux, Juliette;
- Groussin, Lionel
Publication type:
Article
Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e2244, doi. 10.1210/clinem/dgab580
By:
- Herrou, Julia;
- Picaud, Axelle Salcion;
- Lassalle, Louis;
- Pacot, Laurence;
- Chaussain, Catherine;
- Merzoug, Valérie;
- Hervé, Agathe;
- Gadion, Margaux;
- Rothenbuhler, Anya;
- Kamenický, Peter;
- Roux, Christian;
- Linglart, Agnès;
- Duplan, Martin Biosse;
- Briot, Karine
Publication type:
Article
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Published in:
Human Genetics, 2023, v. 142, n. 1, p. 1, doi. 10.1007/s00439-022-02476-3
By:
- Pacot, Laurence;
- Pelletier, Valerie;
- Chansavang, Albain;
- Briand-Suleau, Audrey;
- Burin des Roziers, Cyril;
- Coustier, Audrey;
- Maillard, Theodora;
- Vaucouleur, Nicolas;
- Orhant, Lucie;
- Barbance, Cécile;
- Lermine, Alban;
- Hamzaoui, Nadim;
- Hadjadj, Djihad;
- Laurendeau, Ingrid;
- El Khattabi, Laïla;
- Nectoux, Juliette;
- Vidaud, Michel;
- Parfait, Béatrice;
- Dollfus, Hélène;
- Pasmant, Eric
Publication type:
Article
Troisième édition du CoBioMe Congrès des internes de Biologie médicale Paris, 7 mars 2020.
Published in:
2020
By:
- Marchionini, Charles;
- Caillault, Amandine;
- Cocherie, Théophile;
- Devaux, Floriane;
- Larcher, Lise;
- Le Guillou, Edouard;
- Monpierre, Lorra;
- Mory, Céline;
- Moulin, Clémentine;
- Pacot, Laurence;
- Rezzoug, Inès;
- Sabbagh, Audrey;
- Schell, Bérénice;
- Temple, Marie;
- Thiebot, Pauline;
- Vantomme, Hélène;
- Walle, Eve-Marie
Publication type:
Abstract
Étude de deux procédures de comparaison des résultats de biochimie entre deux analyseurs en miroir.
Published in:
Annales de Biologie Clinique, 2017, v. 75, n. 5, p. 589, doi. 10.1684/abc.2017.1276
By:
- Larcher, Lise;
- Pacot, Laurence;
- Bailleul, Sophie;
- Lefèvre, Guillaume
Publication type:
Article
Découverte d’un diabète chez une personne âgée : quels diagnostics ?
Published in:
Annales de Biologie Clinique, 2017, v. 75, n. 2, p. 222, doi. 10.1684/abc.2017.1234
By:
- Lévy, Pacifique;
- Pacot, Laurence;
- Bastard, Jean-Philippe;
- Vatier, Camille
Publication type:
Article
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Published in:
British Journal of Dermatology, 2024, v. 190, n. 2, p. 226, doi. 10.1093/bjd/ljad390
By:
- Pacot, Laurence;
- Sabbagh, Audrey;
- Sohier, Pierre;
- Hadjadj, Djihad;
- Ye, Manuela;
- Boland-Auge, Anne;
- Bacq-Daian, Delphine;
- Laurendeau, Ingrid;
- Briand-Suleau, Audrey;
- Deleuze, Jean-François;
- Margueron, Raphaël;
- Vidaud, Michel;
- Ferkal, Salah;
- Parfait, Béatrice;
- Vidaud, Dominique;
- Network, the NF-France;
- Pasmant, Eric;
- Wolkenstein, Pierre
Publication type:
Article
Severe Phenotype in Patients with Large Deletions of NF1.
Published in:
Cancers, 2021, v. 13, n. 12, p. 2963, doi. 10.3390/cancers13122963
By:
- Pacot, Laurence;
- Vidaud, Dominique;
- Sabbagh, Audrey;
- Laurendeau, Ingrid;
- Briand-Suleau, Audrey;
- Coustier, Audrey;
- Maillard, Théodora;
- Barbance, Cécile;
- Morice-Picard, Fanny;
- Sigaudy, Sabine;
- Glazunova, Olga O.;
- Damaj, Lena;
- Layet, Valérie;
- Quelin, Chloé;
- Gilbert-Dussardier, Brigitte;
- Audic, Frédérique;
- Dollfus, Hélène;
- Guerrot, Anne-Marie;
- Lespinasse, James;
- Julia, Sophie
Publication type:
Article
Should we genotype the sperm of fathers from patients with 'de novo' mutations?
Published in:
European Journal of Endocrinology, 2020, v. 182, n. 1, p. C1, doi. 10.1530/EJE-19-0759
By:
- Pasmant, Eric;
- Pacot, Laurence
Publication type:
Article
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.
Published in:
BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01843-5
By:
- Pacot, Laurence;
- Girish, Milind;
- Knight, Samantha;
- Spurlock, Gill;
- Varghese, Vinod;
- Ye, Manuela;
- Thomas, Nick;
- Pasmant, Eric;
- Upadhyaya, Meena
Publication type:
Article
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2308, doi. 10.1002/humu.24491
By:
- Leman, Raphaël;
- Parfait, Béatrice;
- Vidaud, Dominique;
- Girodon, Emmanuelle;
- Pacot, Laurence;
- Le Gac, Gérald;
- Ka, Chandran;
- Ferec, Claude;
- Fichou, Yann;
- Quesnelle, Céline;
- Aucouturier, Camille;
- Muller, Etienne;
- Vaur, Dominique;
- Castera, Laurent;
- Boulouard, Flavie;
- Ricou, Agathe;
- Tubeuf, Hélène;
- Soukarieh, Omar;
- Gaildrat, Pascaline;
- Riant, Florence
Publication type:
Article
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00425-9
By:
- Pacot, Laurence;
- Vidaud, Dominique;
- Ye, Manuela;
- Chansavang, Albain;
- Coustier, Audrey;
- Maillard, Theodora;
- Barbance, Cécile;
- Laurendeau, Ingrid;
- Hébrard, Bérénice;
- Lunati-Rozie, Ariane;
- Funalot, Benoît;
- Wolkenstein, Pierre;
- Vidaud, Michel;
- Goldenberg, Alice;
- Morice-Picard, Fanny;
- Hadjadj, Djihad;
- Parfait, Béatrice;
- Pasmant, Eric
Publication type:
Article
One NF1 Mutation may Conceal Another.
Published in:
Genes, 2019, v. 10, n. 9, p. 633, doi. 10.3390/genes10090633
By:
- Pacot, Laurence;
- Burin des Roziers, Cyril;
- Laurendeau, Ingrid;
- Briand-Suleau, Audrey;
- Coustier, Audrey;
- Mayard, Théodora;
- Tlemsani, Camille;
- Faivre, Laurence;
- Thomas, Quentin;
- Rodriguez, Diana;
- Blesson, Sophie;
- Dollfus, Hélène;
- Muller, Yvon-Gauthier;
- Parfait, Béatrice;
- Vidaud, Michel;
- Gilbert-Dussardier, Brigitte;
- Yardin, Catherine;
- Dauriat, Benjamin;
- Derancourt, Christian;
- Vidaud, Dominique
Publication type:
Article

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