Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)
Jury, Jeanne, Benoist, Jean‐François, Joubert, Madeleine, Quelin, Chloé, Besnard, Thomas, Conrad, Solène, Le Vaillant, Claudine, Bézieau, Stéphane, Isidor, Bertrand, Attié‐Bitach, Tania, Cogné, Benjamin, Vincent, Marie
Published in Clinical genetics (01.12.2024)
Published in Clinical genetics (01.12.2024)
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EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type
Thomas, Huw B., Wood, Katherine A., Buczek, Weronika A., Gordon, Christopher T., Pingault, Véronique, Attié‐Bitach, Tania, Hentges, Kathryn E., Varghese, Vinod C., Amiel, Jeanne, Newman, William G., O'Keefe, Raymond T.
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
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Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering
Dana, Jérémy, Dorval, Guillaume, Martin, Christine Saint, Belhous, Kahina, Levy, Raphael, Marlin, Sandrine, De Bie, Isabelle, Mautret‐Godefroy, Manon, Rausell, Antonio, Rio, Marlène, Boucher‐Brischoux, Elise, Attié‐Bitach, Tania, Boddaert, Nathalie, Pingault, Véronique
Published in Clinical genetics (01.10.2023)
Published in Clinical genetics (01.10.2023)
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Morphological and genetic causes of fetal cardiomyopathies
Kohaut, Eva, Ader, Flavie, Rooryck, Caroline, Pelluard, Fanny, Bonnière, Maryse, André, Gwenaelle, Sauvestre, Fanny, Roth, Philippe, Khraiche, Diala, Bessières, Bettina, Attié‐Bitach, Tania, Richard, Pascale
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata
Mathonnet, Alix, Cunat, Séverine, Allias, Fabienne, Caillot, Sandrine, Thonnon, Cyrielle, Till, Marianne, Attié‐Bitach, Tania, Touraine, Renaud, Meunier, Sandrine, Cartellier, Charline, Rossi, Massimiliano, Attia, Jocelyne, Putoux, Audrey
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data
Lamouroux, Audrey, Dauge, Coralie, Wells, Constance, Mousty, Eve, Pinson, Lucile, Cavé, Hélène, Capri, Yline, Faure, Jean‐Michel, Grosjean, Frédéric, Sauvestre, Fanny, Attié‐Bitach, Tania, Pelluard, Fanny, Geneviève, David
Published in Prenatal diagnosis (01.05.2022)
Published in Prenatal diagnosis (01.05.2022)
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A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus
Beaufrère, Aurélie, Bessières, Bettina, Bonnière, Maryse, Driessen, Marine, Alfano, Christian, Couderc, Thérèse, Thiry, Marc, Thelen, Nicolas, Lecuit, Marc, Attié‐Bitach, Tania, Vekemans, Michel, Ville, Yves, Nguyen, Laurent, Leruez‐Ville, Marianne, Encha‐Razavi, Férechté
Published in Brain pathology (Zurich, Switzerland) (01.01.2019)
Published in Brain pathology (Zurich, Switzerland) (01.01.2019)
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Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes
Hennocq, Quentin, Garcelon, Nicolas, Bongibault, Thomas, Bouygues, Thomas, Marlin, Sandrine, Amiel, Jeanne, Boutaud, Lucile, Douillet, Maxime, Lyonnet, Stanislas, Pingault, Vèronique, Picard, Arnaud, Rio, Marlèe, Attie‐Bitach, Tania, Khonsari, Roman H., Roux, Nathalie
Published in Prenatal diagnosis (01.09.2024)
Published in Prenatal diagnosis (01.09.2024)
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Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia
Ranza, Emmanuelle, Le Gouez, Morgane, Guimier, Anne, Dunlop, Naziha Khen, Beaudoin, Sylvie, Malan, Valérie, Michot, Caroline, Baujat, Geneviève, Rio, Marlène, Cormier‐Daire, Valérie, Abadie, Véronique, Sarnacki, Sabine, Delacourt, Christophe, Lyonnet, Stanislas, Attié‐Bitach, Tania, Pingault, Véronique, Rousseau, Véronique, Amiel, Jeanne
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Inappropriate p53 activation during development induces features of CHARGE syndrome
Van Nostrand, Jeanine L., Brady, Colleen A., Jung, Heiyoun, Fuentes, Daniel R., Kozak, Margaret M., Johnson, Thomas M., Lin, Chieh-Yu, Lin, Chien-Jung, Swiderski, Donald L., Vogel, Hannes, Bernstein, Jonathan A., Attié-Bitach, Tania, Chang, Ching-Pin, Wysocka, Joanna, Martin, Donna M., Attardi, Laura D.
Published in Nature (London) (09.10.2014)
Published in Nature (London) (09.10.2014)
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Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
Aubert‐Mucca, Marion, Janel, Caroline, Porquet‐Bordes, Valérie, Patat, Olivier, Touraine, Renaud, Edouard, Thomas, Michot, Caroline, Tessier, Aude, Cormier‐Daire, Valérie, Attie‐Bitach, Tania, Baujat, Geneviève
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
Quélin, Chloé, Loget, Philippe, Boutaud, Lucile, Elkhartoufi, Nadia, Milon, Joelle, Odent, Sylvie, Fradin, Mélanie, Demurger, Florence, Pasquier, Laurent, Thomas, Sophie, Attié‐Bitach, Tania
Published in American journal of medical genetics. Part A (01.07.2018)
Published in American journal of medical genetics. Part A (01.07.2018)
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Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
Thomas, Sophie, Wright, Kevin J., Corre, Stéphanie Le, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph G., Valente, Enza Maria, Jackson, Peter K., Drummond, Iain A., Saunier, Sophie, Attié-Bitach, Tania
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor
Darcha, Claude, Laffargue, Fanny, Boutaud, Lucile, Gallot, Denis, Dauphin, Claire, Garcier, Jean Marc, Achaiaa, Amale, Nitschke, Patrick, Fourrage, Cécile, Goumy, Carole, Attie‐Bitach, Tania
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
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Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature
Le Van Quyen, Pauline, Calmels, Nadège, Bonnière, Maryse, Chartier, Suzanne, Razavi, Féréchté, Chelly, Jamel, El Chehadeh, Salima, Baer, Sarah, Boutaud, Lucile, Bacrot, Séverine, Obringer, Cathy, Favre, Romain, Attié‐Bitach, Tania, Laugel, Vincent, Antal, Maria C.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry
Kinzel, Doris, Boldt, Karsten, Davis, Erica E., Burtscher, Ingo, Trümbach, Dietrich, Diplas, Bill, Attié-Bitach, Tania, Wurst, Wolfgang, Katsanis, Nicholas, Ueffing, Marius, Lickert, Heiko
Published in Developmental cell (20.07.2010)
Published in Developmental cell (20.07.2010)
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations
Van‐Gils, Julien, Naudion, Sophie, Toutain, Jérôme, Lancelot, Gwenaelle, Attié‐Bitach, Tania, Blesson, Sophie, Demeer, Bénédicte, Doray, Bérénice, Gonzales, Marie, Martinovic, Jelena, Whalen, Sandra, Taine, Laurence, Arveiler, Benoit, Lacombe, Didier, Fergelot, Patricia
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Tessier, Aude, Boutaud, Lucile, Bruel, Ange‐Line, Thauvin‐Robinet, Christel, Roth, Philippe, Malan, Valérie, Beaujard, Marie‐Paule, Achaiaa, Amale, Oliveira, Judite, Steffann, Julie, Encha‐Razavi, Ferechte, Faivre, Laurence, Bessières, Bettina, Attié‐Bitach, Tania
Published in Clinical genetics (01.12.2020)
Published in Clinical genetics (01.12.2020)
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