Search Results - "Simon‐Bouy, Brigitte"

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation by Mornet, Etienne, Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Benaloun, Emmanuelle, Lavaud, Nicole, Wallon, Fabienne, Rousseau, Nathalie, Charle, Carole, Guberto, Mihelaiti, Muti, Christine, Simon-Bouy, Brigitte

“…Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a large continuum in the severity, ranging from a lethal perinatal form to…”
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A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population by Mornet, Etienne, Yvard, Alice, Taillandier, Agnes, Fauvert, Delphine, Simon‐Bouy, Brigitte

“…Summary The prevalence of hypophosphatasia (HP), a rare metabolic disorder due to loss‐of‐function mutations in the ALPL gene, has never been estimated in the…”
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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France by Hureaux, Marguerite, Guterman, Sarah, Hervé, Bérénice, Till, Marianne, Jaillard, Sylvie, Redon, Sylvie, Valduga, Myléne, Coutton, Charles, Missirian, Chantal, Prieur, Fabienne, Simon‐Bouy, Brigitte, Beneteau, Claire, Kuentz, Paul, Rooryck, Caroline, Gruchy, Nicolas, Marle, Nathalie, Plutino, Morgane, Tosca, Lucie, Dupont, Celine, Puechberty, Jacques, Schluth‐Bolard, Caroline, Salomon, Laurent, Sanlaville, Damien, Malan, Valérie, Vialard, François

“…Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the…”
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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling by Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne

“…Objective We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the…”
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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing by Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne

“…Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high…”
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Genetic analysis of adults heterozygous for ALPL mutations by Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Debiais, Françoise, Guggenbuhl, Pascal, Roux, Christian, Cormier, Catherine, Cortet, Bernard, Porquet-Bordes, Valérie, Coury, Fabienne, Geneviève, David, Chiesa, Jean, Colin, Thierry, Fletcher, Elaine, Guichet, Agnès, Javier, Rose-Marie, Laroche, Michel, Laurent, Michael, Lausch, Ekkehart, LeHeup, Bruno, Lukas, Cédric, Schwabe, Georg, van der Burgt, Ineke, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne

“…Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded…”
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Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients by Grotto, Sarah, Cuisset, Jean-Marie, Marret, Stéphane, Drunat, Séverine, Faure, Patricia, Audebert-Bellanger, Séverine, Desguerre, Isabelle, Flurin, Vincent, Grebille, Anne-Gaëlle, Guerrot, Anne-Marie, Journel, Hubert, Morin, Gilles, Plessis, Ghislaine, Renolleau, Sylvain, Roume, Joëlle, Simon-Bouy, Brigitte, Touraine, Renaud, Willems, Marjolaine, Frébourg, Thierry, Verspyck, Eric, Saugier-Veber, Pascale

“…Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2…”
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Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency by Barbat, B, Bogyo, A, Raux-Demay, M C, Kuttenn, F, Boué, J, Simon-Bouy, B, Serre, J L, Mornet, E

“…The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal…”
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Sperm chromosome analysis in two cases of paracentric inversion by Vialard, François, Pharm.D, Delanete, Audoin, M.D, Clement, Patrice, Pharm.D, Simon-Bouy, Brigitte, M.D., Ph.D, Aubriot, François Xavier, M.D, Selva, Jacqueline, M.D., Ph.D

“…Objective To examine sperm meiotic segregation in men with paracentric inversions. Design Cases reports, literature review. Setting Departments of reproductive…”
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Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases by Simon-Bouy, Brigitte, Muller, Françoise

“…Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1% to 1.8% of foetuses. It has been described as…”
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Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different by Viot, Géraldine, Sonigo, Pascale, Simon, Isabelle, Simon-Bouy, Brigitte, Chadeyron, Frédéric, Beldjord, Cherif, Tantau, Julia, Martinovic, Jelena, Esculpavit, Chantal, Brunelle, Francis, Munnich, Arnold, Vekemans, Michel, Encha-Razavi, Férechté

“…In type I or classical lissencephaly, two genetic causes, namely the LIS1 gene mapping at 17p13.3 and the DCX (doublecortin on X) gene mapping at Xq22.3 are…”
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Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients by Loubières, Yann, Grenet, Dominique, Simon-Bouy, Brigitte, Medioni, Jacques, Landais, Paul, Férec, Claude, Stern, Marc

“…The association between genotype and phenotype in cystic fibrosis (CF) has been clearly established for pancreatic status, but not for lung disease…”
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Utility of genetic testing for prenatal presentations of hypophosphatasia by Sperelakis-Beedham, Brian, Taillandier, Agnès, Domingues, Christelle, Guberto, Mihelaiti, Colin, Estelle, Porquet-Bordes, Valérie, Rothenbuhler, Anya, Salles, Jean-Pierre, Wenkert, Deborah, Zankl, Andreas, Muti, Christine, Bacrot, Séverine, Simon-Bouy, Brigitte, Mornet, Etienne

“…Hypophosphatasia (HPP) is a rare inherited disease affecting bone and dental mineralization due to loss-of-function mutations in the ALPL gene encoding the…”
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Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia by Mornet, Etienne, Muller, Françoise, Ngo, Sandrine, Taillandier, Agnès, Simon-Bouy, Brigitte, Maire, Irène, Oury, Jean-François

“…Prenatal diagnosis of severe hypophosphatasia by mutation analysis of the tissue non‐specific alkaline phosphatase (TNSALP) gene is reliable and mostly…”
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The intermediate alleles of the fragile X CGG repeat in patients with mental retardation by Mornet, Etienne, Chateau, Corinne, Simon-Bouy, Brigitte, Serre, Jean-Louis

“…We have analysed the size of the non‐expanded FRAXA CGG repeat in 385 male patients affected by mental retardation and in 182 unrelated normal chromosomes as…”
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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders by Thauvin-Robinet, Christel, Munck, Anne, Huet, Frédéric, de Becdelièvre, Alix, Jimenez, Clément, Lalau, Guy, Gautier, Elodie, Rollet, Jacques, Flori, Jean, Nové-Josserand, Raphaëlle, Soufir, Jean-Claude, Haloun, Alain, Hubert, Dominique, Houssin, Elise, Bellis, Gil, Rault, Gilles, David, Albert, Janny, Laurent, Chiron, Raphaël, Rives, Nathalie, Hairion, Dominique, Collignon, Patrick, Valeri, Antoine, Karsenty, Gilles, Rossi, Annick, Audrézet, Marie-Pierre, Férec, Claude, Leclerc, Julie, Georges, Marie des, Claustres, Mireille, Bienvenu, Thierry, Gérard, Bénédicte, Boisseau, Pierre, Cabet-Bey, Faïza, Cheillan, David, Feldmann, Delphine, Clavel, Christine, Bieth, Eric, Iron, Albert, Simon-Bouy, Brigitte, Izard, Vincent, Steffann, Julie, Viville, Stéphane, Costa, Catherine, Drouineaud, Véronique, Fauque, Patricia, Binquet, Christine, Bonithon-Kopp, Claire, Morris, Mike A, Faivre, Laurence, Goossens, Michel, Roussey, Michel, Girodon, Emmanuelle

“…The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral…”
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Diagnostic génétique d’une maladie osseuse rare : l’apport du NGS by Mornet, Etienne, Taillandier, Agnès, Guberto, Mihelaiti, Simon-Bouy, Brigitte

“…L’amélioration significative ces dernières années de la prise en charge des patients atteints de maladies osseuses rares et la diminution de leur errance…”
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Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome by Karmous-Benailly, Houda, Martinovic, Jelena, Gubler, Marie-Claire, Sirot, Yoann, Clech, Laure, Ozilou, Catherine, Augé, Joëlle, Brahimi, Nora, Etchevers, Heather, Detrait, Eric, Esculpavit, Chantal, Audollent, Sophie, Goudefroye, Géraldine, Gonzales, Marie, Tantau, Julia, Loget, Philippe, Joubert, Madeleine, Gaillard, Dominique, Jeanne-Pasquier, Corinne, Delezoide, Anne-Lise, Peter, Marie-Odile, Plessis, Ghislaine, Simon-Bouy, Brigitte, Dollfus, Hélène, Le Merrer, Martine, Munnich, Arnold, Encha-Razavi, Férechté, Vekemans, Michel, Attié-Bitach, Tania

“…Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal…”
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Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance by Oca, Florine, Dreux, Sophie, Gerard, Benedicte, Simon-Bouy, Brigitte, de Becdelievre, Alix, Ferec, Claude, Girodon, Emmanuelle, Muller, Francoise

“…The large number of CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations and the existence of…”
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The delta F508 mutation in mild adult forms of cystic fibrosis (CF) by Simon-Bouy, B, Mornet, E, Taillandier, A, Serre, J L, Boue, J, Boue, A

“…Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for delta F508. This mutation was found to be significantly less…”
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