Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up
Jaillard, Alienor, Valence, Stéphanie, Vande Perre, Saskia, Dhombres, Ferdinand, Héron, Delphine, Billette de Villemeur, Thierry, Keren, Boris, Afenjar, Alexandra, Qebibo, Leila, Harion, Madeleine, Quenum‐Miraillet, Geneviève, Rodriguez, Diana, Jouannic, Jean‐Marie, Burglen, Lydie, Garel, Catherine
Published in Prenatal diagnosis (01.01.2024)
Published in Prenatal diagnosis (01.01.2024)
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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype
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
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia
Quenum-Miraillet, Geneviève, Malan, Valérie, Martinovic, Jelena, Encha-Razavi, Férechté, Aral, Bernard, Texier, Isabelle, Bonnefont, Jean-Paul, Vekemans, M., Morichon-Delvallez, Nicole
Published in Prenatal diagnosis (01.01.2008)
Published in Prenatal diagnosis (01.01.2008)
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The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event
Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Odent, Sylvie, Despert, Veronique, Cam, Gérard, Perdriger, Aleth, Louvrier, Camille, Cobret, Laetitia, Copin, Bruno, Chantot‐Bastaraud, Sandra, Duquesnoy, Philippe, Piterboth, William, Le Jeunne, Claire, Quenum‐Miraillet, Genevieve, Siffroi, Jean Pierre, Georgin‐Lavialle, Sophie, Grateau, Gilles, Legendre, Marie, Giurgea, Irina, Karabina, Sonia‐Athina, Amselem, Serge
Published in ACR open rheumatology (01.06.2019)
Published in ACR open rheumatology (01.06.2019)
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First reports of fetal SMARCC1 related hydrocephalus
Rive Le Gouard, Nicolas, Nicolle, Romain, Lefebvre, Mathilde, Gelot, Antoinette, Heide, Solveig, Gerasimenko, Anna, Grigorescu, Romulus, Derive, Nicolas, Jouannic, Jean-Marie, Garel, Catherine, Valence, Stéphanie, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Keren, Boris, Heron, Delphine, Attie-Bitach, Tania
Published in European journal of medical genetics (01.08.2023)
Published in European journal of medical genetics (01.08.2023)
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Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Heide, Solveig, Spentchian, Myrtille, Valence, Stéphanie, Buratti, Julien, Mach, Corinne, Lejeune, Elodie, Olin, Valérie, Massimello, Marta, Lehalle, Daphné, Mouthon, Linda, Whalen, Sandra, Faudet, Anne, Mignot, Cyril, Garel, Catherine, Blondiaux, Eleonore, Lefebvre, Mathilde, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Milh, Mathieu, Bretelle, Florence, Portes, Vincent des, Guibaud, Laurent, Putoux, Audrey, Tsatsaris, Vassili, Spodenkiewic, Marta, Layet, Valérie, Dard, Rodolphe, Mandelbrot, Laurent, Guet, Agnès, Moutton, Sébastien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Beneteau, Claire, Rocchisanni, Marie-Amélie, Benachi, Alexandra, Saada, Julien, Attié-Bitach, Tania, Guilbaud, Lucie, Maurice, Paul, Friszer, Stéphanie, Jouannic, Jean-Marie, de Villemeur, Thierry Billette, Moutard, Marie-Laure, Keren, Boris, Héron, Delphine
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Imaging Factors Affecting Prenatal Counseling in Orofacial Clefts
Hermann, Anne-Laure, Soupre, Veronique, Vande Perre, Saskia, Guilbaud, Lucie, Quenum-Miraillet, Genevieve, Blondiaux, Eléonore, Picard, Arnaud, Jouannic, Jean-Marie, Dhombres, Ferdinand, Garel, Catherine
Published in Fetal diagnosis and therapy (01.07.2023)
Published in Fetal diagnosis and therapy (01.07.2023)
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