Search Results - "Poirsier, Céline"

Genetics of Usher Syndrome: New Insights From a Meta-analysis by Jouret, Guillaume, Poirsier, Céline, Spodenkiewicz, Marta, Jaquin, Clémence, Gouy, Evan, Arndt, Carl, Labrousse, Marc, Gaillard, Dominique, Doco-Fenzy, Martine, Lebre, Anne-Sophie

“…OBJECTIVE:To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years of studies by next-generation sequencing, and propose an up-to-date…”
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Clinical Genetics of Prolidase Deficiency: An Updated Review by Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie

“…Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn…”
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Further characterisation of ARX -related disorders in females due to inherited or de novo variants by Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C, Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, Charles, Perrine, Mignot, Cyril, Héron, Delphine

“…The Aristaless-related homeobox ( ) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the…”
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A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features by Le Collen, Lauriane, Barraud, Sara, Braconnier, Antoine, Coppin, Lucie, Zachar, Dominique, Boulagnon, Camille, Deguelte, Sophie, Souchon, Pierre François, Spodenkiewicz, Marta, Poirsier, Céline, Aubert, Sébastien, Odou, Marie Françoise, Delemer, Brigitte

“…Purpose We described the phenotype of a large 4-generation family with Hyperparathyrodism-Jaw Tumor syndrome (HPT-JT) associated with a rare deletion of exon 3…”
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Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly by Journiac, Nathalie, Gilabert-Juan, Javier, Cipriani, Sara, Benit, Paule, Liu, Xiaoqian, Jacquier, Sandrine, Faivre, Valérie, Delahaye-Duriez, Andrée, Csaba, Zsolt, Hourcade, Tristan, Melinte, Eliza, Lebon, Sophie, Violle-Poirsier, Céline, Oury, Jean-François, Adle-Biassette, Homa, Wang, Zhao-Qi, Mani, Shyamala, Rustin, Pierre, Gressens, Pierre, Nardelli, Jeannette

“…A distinctive feature of neocortical development is the highly coordinated production of different progenitor cell subtypes, which are critical for ensuring…”
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Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature by Beaudoux, Olivia, Lebre, Anne‐Sophie, Doco Fenzy, Martine, Spodenkiewicz, Marta, Canivet, Eric, Colosio, Charlotte, Poirsier, Céline

“…Townes–Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad…”
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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype by Nguyen, Toan, Heide, Solveig, Guilbaud, Lucie, Valence, Stéphanie, Perre, Saskia Vande, Blondiaux, Eléonore, Keren, Boris, Quenum‐Miraillet, Geneviève, Jouannic, Jean‐Marie, Mandelbrot, Laurent, Picone, Olivier, Guet, Agnès, Tsatsaris, Vassilis, Milh, Mathieu, Girard, Nadine, Vincent, Marie, Nizon, Mathilde, Poirsier, Céline, Vivanti, Alexandre, Benachi, Alexandra, Portes, Vincent des, Guibaud, Laurent, Patat, Olivier, Spentchian, Myrtille, Frugère, Lisa, Héron, Delphine, Garel, Catherine

“…Objective Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The objective of this study was to…”
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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders by Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These…”
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Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene by Billon, Clarisse, Molin, Arnaud, Poirsier, Céline, Clemenson, Alix, Dauge, Coralie, Grelet, Maude, Sigaudy, Sabine, Patrier, Sophie, Goldenberg, Alice, Layet, Valérie, Tantau, Julia, Fleury, Clémence, Liard, Agnès, Diguet, Alain, Fritih, Radia, Verspyck, Eric, Rendu, John, Boutaud, Lucile, Tessier, Aude, Thomas, Sophie, Razavi, Ferechté, Achaiaa, Amale, Elkhartoufi, Nadia, Hakkakian, Leila, Magnin, Eglantine, Bôle‐Feysot, Christine, Masson, Cécile, Ville, Yves, Roth, Philippe, Prieur, Fabienne, Bessieres, Bettina, Bonniere, Maryse, Attie‐Bitach, Tania

“…Megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a…”
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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency by Tebani, Abdellah, Sudrié-Arnaud, Bénédicte, Dabaj, Ivana, Torre, Stéphanie, Domitille, Laur, Snanoudj, Sarah, Heron, Benedicte, Levade, Thierry, Caillaud, Catherine, Vergnaud, Sabrina, Saugier-Veber, Pascale, Coutant, Sophie, Dranguet, Hélène, Froissart, Roseline, Al Khouri, Majed, Alembik, Yves, Baruteau, Julien, Arnoux, Jean-Baptiste, Brassier, Anais, Brehin, Anne-Claire, Busa, Tiffany, Cano, Aline, Chabrol, Brigitte, Coubes, Christine, Desguerre, Isabelle, Doco-Fenzy, Martine, Drenou, Bernard, Elcioglu, Nursel H, Elsayed, Solaf, Fouilhoux, Alain, Poirsier, Céline, Goldenberg, Alice, Jouvencel, Philippe, Kuster, Alice, Labarthe, François, Lazaro, Leila, Pichard, Samia, Rivera, Serge, Roche, Sandrine, Roggerone, Stéphanie, Roubertie, Agathe, Sigaudy, Sabine, Spodenkiewicz, Marta, Tardieu, Marine, Vanhulle, Catherine, Marret, Stéphane, Bekri, Soumeya

“…This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and…”
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Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France by Lançon, Allan, Beaudouin, Amandine, Lambert, Laetitia, Baurand, Amandine, Petit, Estelle, Schaefer, Elise, Poirsier, Céline, Piard, Juliette, Patay, Léa, Garde, Aurore, Bournez, Marie, Bertolone, Geoffrey, Kastner, Claire, Tempé, Laurine, El Chehadeh, Salima, Spodenkiewick, Marta, Lissy, Lola, Doco-Fenzy, Martine, Cabrol, Christelle, Trouvé, Chloé, Brischoux, Elise Boucher, Cloteau, Mélanie, Burtin, Alexia, Renaud, Mathilde, Riviere, Axelle, Quentin, Thomas, De Souza, Clément Simao, Sawka, Caroline, Racine, Caroline, Robert, Marion, Gautier, Elodie, Delanne, Julian, Bertaut, Aurélie, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie

“…In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to…”
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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome by Jouret, Guillaume, Egloff, Matthieu, Landais, Emilie, Tassy, Olivier, Giuliano, Fabienne, Karmous‐Benailly, Houda, Coutton, Charles, Satre, Véronique, Devillard, Françoise, Dieterich, Klaus, Vieville, Gaëlle, Kuentz, Paul, Caignec, Cédric, Beneteau, Claire, Isidor, Bertrand, Nizon, Mathilde, Callier, Patrick, Marquet, Valentine, Bieth, Eric, Lévy, Jonathan, Tabet, Anne‐Claude, Lyonnet, Stanislas, Baujat, Geneviève, Rio, Marlène, Cartault, François, Scheidecker, Sophie, Gouronc, Aurélie, Schalk, Audrey, Jacquin, Clémence, Spodenkiewicz, Marta, Angélini, Chloé, Pennamen, Perrine, Rooryck, Caroline, Doco‐Fenzy, Martine, Poirsier, Céline

“…A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a…”
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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH by Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, Doco-Fenzy, Martine

“…Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known…”
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients by Jacquin, Clémence, Landais, Emilie, Poirsier, Céline, Afenjar, Alexandra, Akhavi, Ahmad, Bednarek, Nathalie, Bénech, Caroline, Bonnard, Adeline, Bosquet, Damien, Burglen, Lydie, Callier, Patrick, Chantot‐Bastaraud, Sandra, Coubes, Christine, Coutton, Charles, Delobel, Bruno, Descharmes, Margaux, Dupont, Jean‐Michel, Gatinois, Vincent, Gruchy, Nicolas, Guterman, Sarah, Heddar, Abdelkader, Herissant, Lucas, Heron, Delphine, Isidor, Bertrand, Jaeger, Pauline, Jouret, Guillaume, Keren, Boris, Kuentz, Paul, Le Caignec, Cedric, Levy, Jonathan, Lopez, Nathalie, Manssens, Zoe, Martin‐Coignard, Dominique, Marey, Isabelle, Mignot, Cyril, Missirian, Chantal, Pebrel‐Richard, Céline, Pinson, Lucile, Puechberty, Jacques, Redon, Sylvia, Sanlaville, Damien, Spodenkiewicz, Marta, Tabet, Anne‐Claude, Verloes, Alain, Vieville, Gaelle, Yardin, Catherine, Vialard, François, Doco‐Fenzy, Martine

“…Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the…”
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3q29 duplications: A cohort of 46 patients and a literature review by Massier, Marie, Doco‐Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert‐Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent‐Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie, Delplancq, Geoffroy, Brisset, Sophie, Lesieur‐Sebellin, Marion, Malan, Valérie, Romana, Serge, Rio, Marlène, Marlin, Sandrine, Amiel, Jeanne, Marquet, Valentine, Dauriat, Benjamin, Moradkhani, Kamran, Mercier, Sandra, Isidor, Bertrand, Arpin, Stéphanie, Pujalte, Mathilde, Jedraszak, Guillaume, Pebrel‐Richard, Céline, Salaun, Gaëlle, Laffargue, Fanny, Boudjarane, John, Missirian, Chantal, Chelloug, Nora, Toutain, Annick, Chiesa, Jean, Keren, Boris, Mignot, Cyril, Gouy, Evan, Jaillard, Sylvie, Landais, Emilie, Poirsier, Céline

“…Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been…”
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A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features by Poirsier-Violle, Céline, Abourra, Azzedine, Baumann, Clarisse, Perrin, Laurence, Capri, Yline, Mignot, Cyril, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain

“…Abstract We report a boy with severe developmental delay, microcephaly and characteristic facial dysmorphism consisting in round face, hypertelorism, upslanted…”
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A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes by Besseau-Ayasse, J., Violle-Poirsier, C., Bazin, A., Gruchy, N., Moncla, A., Girard, F., Till, M., Mugneret, F., Coussement, A., Pelluard, F., Jimenez, M., Vago, P., Portnoï, M. F., Dupont, C., Beneteau, C., Amblard, F., Valduga, M., Bresson, J. L., Carré-Pigeon, F., Le Meur, N., Tapia, S., Yardin, C., Receveur, A., Lespinasse, J., Pipiras, E., Beaujard, M. P., Teboul, P., Brisset, S., Catty, M., Nowak, E., Douet Guilbert, N., Lallaoui, H., Bouquillon, S., Gatinois, V., Joly-Helas, G., Prieur, F., Cartault, F., Martin, D., Kleinfinger, P., Molina Gomes, D., Doco-Fenzy, M., Vialard, F.

“…ABSTRACT Objective The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions. We performed a collaborative, retrospective analysis in France…”
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Report on 3 patients with 12p duplication including GRIN2B by Poirsier, Celine, Landais, Emilie, Bednarek, Nathalie, Nobecourt, Jean-Marie, Khoury, Maroun, Schmidt, Pascal, Morville, Patrice, Gruson, Nadine, Clomes, Sandrine, Michel, Nicole, Riot, Anita, Manjeongean, Christelle, Gaillard, Dominique, Doco-Fenzy, Martine

“…Abstract The duplication of the short arm (p) of chromosome 12 is a rare chromosomal abnormality, and most reported cases result from malsegregation of a…”
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