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Start Over "Campion, Dominique" Journal european journal of human genetics
14 results on '"Campion, Dominique"'

1. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille

Published
2024
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2. Primary brain calcification: an international study reporting novel variants and associated phenotypes

Author

Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O’Driscoll, Mark, Hannequin, Didier, Campion, Dominique, The French PFBC study group, Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni, and Nicolas, Gaël

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Genetic Testing, Brain Disorders, Rare Diseases, Neurosciences, Mental Health, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Mental health, Adolescent, Adult, Aged, Aged, 80 and over, Brain Diseases, Calcinosis, Child, Cognitive Dysfunction, Female, Genetic Variation, Heterozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Proto-Oncogene Proteins c-sis, Receptor, Platelet-Derived Growth Factor beta, Receptors, G-Protein-Coupled, Receptors, Virus, Sodium-Phosphate Cotransporter Proteins, Type III, Xenotropic and Polytropic Retrovirus Receptor, Young Adult, French PFBC study group, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history. Sequence variants were classified as pathogenic, likely pathogenic, or of uncertain significance (VUS), based on the ACMG-AMP recommendations. We identified 45 probands (25.4%) carrying either pathogenic or likely pathogenic variants (n = 34, 19.2%) or VUS (n = 11, 6.2%). SLC20A2 provided the highest contribution (16.9%), followed by XPR1 and PDGFB (3.4% each), and PDGFRB (1.7%). A total of 81.5% of carriers were symptomatic and the most recurrent symptoms were parkinsonism, cognitive impairment, and psychiatric disturbances (52.3%, 40.9%, and 38.6% of symptomatic individuals, respectively), with a wide range of age at onset (from childhood to 81 years). While the pathogenic and likely pathogenic variants identified in this study can be used for genetic counseling, the VUS will require additional evidence, such as recurrence in unrelated patients, in order to be classified as pathogenic.

Published
2018

3. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, Audebert-Bellanger, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noëlle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Dieux, Anne, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Fergelot, Patricia, additional, Fradin, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, Harzalla, Inès, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Le Guillou Horn, Xavier, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaëtan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godeliève, additional, Jean-Marçais, Nolwenn, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, Pasquier, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Pingault, Veronique, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quélin, Chloé, additional, Quemener-Redon, Sylvia, additional, Rama, Mélanie, additional, Rio, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, Saugier-Veber, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Touraine, Renaud, additional, Mau-Them, Frederic Tran, additional, Trimouille, Aurélien, additional, Van Gils, Julien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional

Published
2023
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4. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Author

Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, and Bourgeron, Thomas

Published
2016
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5. Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Author

David, Stéphanie, primary, Ferreira, Joana, additional, Quenez, Olivier, additional, Rovelet-Lecrux, Anne, additional, Richard, Anne-Claire, additional, Vérin, Marc, additional, Jurici, Snejana, additional, Le Ber, Isabelle, additional, Boland, Anne, additional, Deleuze, Jean- François, additional, Frebourg, Thierry, additional, Mendes de Oliveira, João Ricardo, additional, Hannequin, Didier, additional, Campion, Dominique, additional, and Nicolas, Gaël, additional

Published
2016
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6. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Author

Mosca-Boidron, Anne-Laure, primary, Gueneau, Lucie, additional, Huguet, Guillaume, additional, Goldenberg, Alice, additional, Henry, Céline, additional, Gigot, Nadège, additional, Pallesi-Pocachard, Emilie, additional, Falace, Antonio, additional, Duplomb, Laurence, additional, Thevenon, Julien, additional, Duffourd, Yannis, additional, ST-Onge, Judith, additional, Chambon, Pascal, additional, Rivière, Jean-Baptiste, additional, Thauvin-Robinet, Christel, additional, Callier, Patrick, additional, Marle, Nathalie, additional, Payet, Muriel, additional, Ragon, Clemence, additional, Goubran Botros, Hany, additional, Buratti, Julien, additional, Calderari, Sophie, additional, Dumas, Guillaume, additional, Delorme, Richard, additional, Lagarde, Nathalie, additional, Pinoit, Jean-Michel, additional, Rosier, Antoine, additional, Masurel-Paulet, Alice, additional, Cardoso, Carlos, additional, Mugneret, Francine, additional, Saugier-Veber, Pascale, additional, Campion, Dominique, additional, Faivre, Laurence, additional, and Bourgeron, Thomas, additional

Published
2015
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7. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Author

Nicolas, Gaël, primary, Wallon, David, additional, Charbonnier, Camille, additional, Quenez, Olivier, additional, Rousseau, Stéphane, additional, Richard, Anne-Claire, additional, Rovelet-Lecrux, Anne, additional, Coutant, Sophie, additional, Le Guennec, Kilan, additional, Bacq, Delphine, additional, Garnier, Jean-Guillaume, additional, Olaso, Robert, additional, Boland, Anne, additional, Meyer, Vincent, additional, Deleuze, Jean-François, additional, Munter, Hans Markus, additional, Bourque, Guillaume, additional, Auld, Daniel, additional, Montpetit, Alexandre, additional, Lathrop, Mark, additional, Guyant-Maréchal, Lucie, additional, Martinaud, Olivier, additional, Pariente, Jérémie, additional, Rollin-Sillaire, Adeline, additional, Pasquier, Florence, additional, Le Ber, Isabelle, additional, Sarazin, Marie, additional, Croisile, Bernard, additional, Boutoleau-Bretonnière, Claire, additional, Thomas-Antérion, Catherine, additional, Paquet, Claire, additional, Sauvée, Mathilde, additional, Moreaud, Olivier, additional, Gabelle, Audrey, additional, Sellal, François, additional, Ceccaldi, Mathieu, additional, Chamard, Ludivine, additional, Blanc, Frédéric, additional, Frebourg, Thierry, additional, Campion, Dominique, additional, and Hannequin, Didier, additional

Published
2015
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8. Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

Author

Nicolas, Gaël, primary, Wallon, David, additional, Goupil, Claudia, additional, Richard, Anne-Claire, additional, Pottier, Cyril, additional, Dorval, Véronique, additional, Sarov-Rivière, Mariana, additional, Riant, Florence, additional, Hervé, Dominique, additional, Amouyel, Philippe, additional, Guerchet, Maelenn, additional, Ndamba-Bandzouzi, Bebene, additional, Mbelesso, Pascal, additional, Dartigues, Jean-François, additional, Lambert, Jean-Charles, additional, Preux, Pierre-Marie, additional, Frebourg, Thierry, additional, Campion, Dominique, additional, Hannequin, Didier, additional, Tournier-Lasserve, Elisabeth, additional, Hébert, Sébastien S, additional, and Rovelet-Lecrux, Anne, additional

Published
2015
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9. A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Author

Nicolas, Gaël, primary, Jacquin, Agnès, additional, Thauvin-Robinet, Christel, additional, Rovelet-Lecrux, Anne, additional, Rouaud, Olivier, additional, Pottier, Cyril, additional, Aubriot-Lorton, Marie-Hélène, additional, Rousseau, Stéphane, additional, Wallon, David, additional, Duvillard, Christian, additional, Béjot, Yannick, additional, Frébourg, Thierry, additional, Giroud, Maurice, additional, Campion, Dominique, additional, and Hannequin, Didier, additional

Published
2014
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10. Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

Author

Verpillat, Patrice, primary, Camuzat, Agnès, additional, Hannequin, Didier, additional, Thomas-Anterion, Catherine, additional, Puel, Michèle, additional, Belliard, Serge, additional, Dubois, Bruno, additional, Didic, Mira, additional, Lacomblez, Lucette, additional, Moreaud, Olivier, additional, Golfier, Véronique, additional, Campion, Dominique, additional, Brice, Alexis, additional, and Clerget-Darpoux, Françoise, additional

Published
2002
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11. Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population

Author

Verpillat, Patrice, primary, Bouley, Sandrine, additional, Campion, Dominique, additional, Hannequin, Didier, additional, Dubois, Bruno, additional, Belliard, Serge, additional, Puel, Michèle, additional, Thomas-Antérion, Catherine, additional, Agid, Yves, additional, Brice, Alexis, additional, and Clerget-Darpoux, Françoise, additional

Published
2001
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12. APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population

Author

Zurutuza, Laurence, primary, Verpillat, Patrice, additional, Raux, Gregory, additional, Hannequin, Didier, additional, Puel, Michèle, additional, Belliard, Serge, additional, Michon, Agnès, additional, Pothin, Yolaine, additional, Camuzat, Agnès, additional, Penet, Christiane, additional, Martin, Cozette, additional, Brice, Alexis, additional, Campion, Dominique, additional, Clerget-Darpoux, Françoise, additional, and Frebourg, Thierry, additional

Published
2000
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13. No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia

Author

Bonnet-Brilhault, Frédérique, primary, Laurent, Claudine, additional, Campion, Dominique, additional, Thibaut, Florence, additional, Lafargue, Carole, additional, Charbonnier, Françoise, additional, Deleuze, Jean-François, additional, Ménard, Jean-François, additional, Jay, Maurice, additional, Petit, Michel, additional, Frebourg, Thierry, additional, and Mallet, Jacques, additional

Published
1999
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14. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

Author

Rovelet-Lecrux, Anne, Legallic, Solenn, Wallon, David, Flaman, Jean-Michel, Martinaud, Olivier, Bombois, Stéphanie, Rollin-Sillaire, Adeline, Michon, Agnès, Le Ber, Isabelle, Pariente, Jérémie, Puel, Michèle, Paquet, Claire, Croisile, Bernard, Thomas-Antérion, Catherine, Vercelletto, Martine, Lévy, Richard, Frébourg, Thierry, Hannequin, Didier, and Campion, Dominique

Subjects
AMYLOID beta-protein precursor, ALZHEIMER'S disease, GENETIC mutation, GLYCOPROTEINS, PREVENTIVE medicine
Abstract

Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes, as well as in rare sporadic young-onset AD cases. Using high-resolution array comparative genomic hybridisation, we assessed the presence of rare CNVs in 21 unrelated ADEOAD cases, having no alteration on known genes, and 12 sporadic AD cases, with an age of onset younger than 55 years. The analysis revealed the presence of 7 singleton CNVs (4 in ADEOAD and 3 in sporadic cases) absent in 1078 controls and 912 late-onset AD cases. Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling. Although these variants are individually rare and restricted to particular subgroups of patients, these findings support the causal role, in human pathology, of a set of genes coding for molecules suspected for a long time to modify Aβ metabolism or signalling, and for which animal or cellular models have already been developed. [ABSTRACT FROM AUTHOR]

Published
2012
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