Search Results - "Arpin, Stephanie"

Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome by Hennocq, Quentin, Willems, Marjolaine, Amiel, Jeanne, Arpin, Stéphanie, Attie-Bitach, Tania, Bongibault, Thomas, Bouygues, Thomas, Cormier-Daire, Valérie, Corre, Pierre, Dieterich, Klaus, Douillet, Maxime, Feydy, Jean, Galliani, Eva, Giuliano, Fabienne, Lyonnet, Stanislas, Picard, Arnaud, Porntaveetus, Thantrira, Rio, Marlène, Rouxel, Flavien, Shotelersuk, Vorasuk, Toutain, Annick, Yauy, Kevin, Geneviève, David, Khonsari, Roman H., Garcelon, Nicolas

“…The field of dysmorphology has been changed by the use Artificial Intelligence (AI) and the development of Next Generation Phenotyping (NGP). The aim of this…”
Get full text

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt by Rouxel, Flavien, Yauy, Kevin, Boursier, Guilaine, Gatinois, Vincent, Barat-Houari, Mouna, Sanchez, Elodie, Lacombe, Didier, Arpin, Stéphanie, Giuliano, Fabienne, Haye, Damien, Rio, Marlène, Toutain, Annick, Dieterich, Klaus, Brischoux-Boucher, Elise, Julia, Sophie, Nizon, Mathilde, Afenjar, Alexandra, Keren, Boris, Jacquette, Aurelia, Moutton, Sebastien, Jacquemont, Marie-Line, Duflos, Claire, Capri, Yline, Amiel, Jeanne, Blanchet, Patricia, Lyonnet, Stanislas, Sanlaville, Damien, Genevieve, David

“…Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in two major genes, KMT2D and KDM6A, that are responsible for Kabuki syndrome 1 (KS1,…”
Get full text

Autosomal recessive primary microcephaly due to ASPM mutations: An update by Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco‐Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu‐Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier‐Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh‐Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine

“…Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a…”
Get full text

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…”
Get full text

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients by Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-Ange, Toutain, Annick, Paubel, Agathe, Mugneret, Francine, Thauvin-Robinet, Christel, Arpin, Stéphanie, Le Caignec, Cedric, Jonveaux, Philippe, Beri, Mylène, Leporrier, Nathalie, Motte, Jacques, Fiquet, Caroline, Brichet, Olivier, Mozelle-Nivoix, Monique, Sabouraud, Pascal, Golovkine, Nathalie, Bednarek, Nathalie, Gaillard, Dominique, Doco-Fenzy, Martine

“…The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ…”
Get full text

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials by Garde, Aurore, Guibaud, Laurent, Goldenberg, Alice, Petit, Florence, Dard, Rodolphe, Roume, Joelle, Mazereeuw‐Hautier, Juliette, Chassaing, Nicolas, Lacombe, Didier, Morice‐Picard, Fanny, Toutain, Annick, Arpin, Stéphanie, Boccara, Olivia, Touraine, Renaud, Blanchet, Patricia, Coubes, Christine, Willems, Marjolaine, Pinson, Lucile, Van Kien, Philippe Khau, Chiaverini, Christine, Giuliano, Fabienne, Alessandri, Jean‐Luc, Mathieu‐Dramard, Michèle, Morin, Gilles, Bursztejn, Anne‐Claire, Mignot, Cyril, Doummar, Diane, Di Rocco, Frederico, Cornaton, Jenny, Nicolas, Claire, Gautier, Elodie, Luu, Maxime, Bardou, Marc, Sorlin, Arthur, Philippe, Christophe, Edery, Patrick, Rossi, Massimiliano, Carmignac, Virginie, Thauvin‐Robinet, Christel, Vabres, Pierre, Faivre, Laurence

“…Megalencephaly‐CApillary malformation‐Polymicrogyria (MCAP) syndrome results from somatic mosaic gain‐of‐function variants in PIK3CA. Main features are…”
Get full text

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy by Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, Bahi-Buisson, Nadia

“…To provide new insights into the related clinical and imaging phenotypes and refine the phenotype-genotype correlation in syndrome. We analyzed the clinical…”
Get full text

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals by Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K. H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, Geneviève, David

“…Purpose Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and…”
Get full text

General movement assessment in newborns with 5QSMA by Arpin, Stephanie, Lalande, Julie, Labelle, Christine, Brown, Richard, Garfinkle, Jarred, Oskoui, Maryam

Get full text

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing by Kuentz, Paul, St-Onge, Judith, Duffourd, Yannis, Courcet, Jean-Benoît, Carmignac, Virginie, Jouan, Thibaud, Sorlin, Arthur, Abasq-Thomas, Claire, Albuisson, Juliette, Amiel, Jeanne, Amram, Daniel, Arpin, Stéphanie, Attie-Bitach, Tania, Bahi-Buisson, Nadia, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Boccara, Olivia, Bonnière, Maryse, Boute, Odile, Bursztejn, Anne-Claire, Chiaverini, Christine, Cormier-Daire, Valérie, Coubes, Christine, Delobel, Bruno, Edery, Patrick, Chehadeh, Salima El, Francannet, Christine, Geneviève, David, Goldenberg, Alice, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie-Line, Khau Van Kien, Philippe, Lacombe, Didier, Martin, Ludovic, Martinovic, Jelena, Maruani, Annabel, Mathieu-Dramard, Michèle, Mazereeuw-Hautier, Juliette, Michot, Caroline, Mignot, Cyril, Miquel, Juliette, Morice-Picard, Fanny, Petit, Florence, Phan, Alice, Rossi, Massimiliano, Touraine, Renaud, Verloes, Alain, Vincent, Marie, Vincent-Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Lehalle, Daphné, Thevenon, Julien, Thauvin-Robinet, Christel, Hadj-Rabia, Smaïl, Faivre, Laurence, Vabres, Pierre, Rivière, Jean-Baptiste

“…Purpose: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA -related overgrowth spectrum…”
Get full text

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance by Arpin, Stéphanie, Afenjar, Alexandra, Dubern, Béatrice, Toutain, Annick, Cabrol, Sylvie, Héron, Delphine

“…Floating-Harbor Syndrome is a growth retardation syndrome with delayed bone age, typical facial features, and retarded speech development of unknown etiology…”
Get full text

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Get full text

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition by Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.

“…Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton…”
Get full text

Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations by Faivre, Laurence, Crépin, Jean‐Charles, Réda, Manon, Nambot, Sophie, Carmignac, Virginie, Abadie, Caroline, Mirault, Tristan, Faure‐Conter, Cécile, Mazereeuw‐Hautier, Juliette, Maza, Aude, Puzenat, Eve, Collonge‐Rame, Marie‐Agnès, Bursztejn, Anne‐Claire, Philippe, Christophe, Thauvin‐Robinet, Christel, Chevarin, Martin, Abasq‐Thomas, Claire, Amiel, Jeanne, Arpin, Stéphanie, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Bourrat, Emmanuelle, Boute, Odile, Chassaing, Nicolas, Coubes, Christine, Demeer, Bénédicte, Edery, Patrick, El Chehadeh, Salima, Goldenberg, Alice, Hadj‐Rabia, Smail, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie‐Line, Van Kien, Philippe Khau, Lacombe, Didier, Lehalle, Daphné, Lambert, Laetitia, Martin, Ludovic, Maruani, Annabel, Morice‐Picard, Fanny, Petit, Florence, Phan, Alice, Pinson, Lucile, Rossi, Massimiliano, Touraine, Renaud, Vanlerberghe, Clémence, Vincent, Marie, Vincent‐Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Verkarre, Virginie, Devalland, Christine, Devouassoux‐Shisheboran, Mojgan, Abad, Marine, Rioux‐Leclercq, Nathalie, Bonniaud, Bertille, Duffourd, Yannis, Martel, Jehanne, Binquet, Christine, Kuentz, Paul, Vabres, Pierre

“…The PIK3CA‐related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also…”
Get full text

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France by Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Doco-Fenzy, Martine, Poirsier, Céline, Spodenkiewicz, Marta, Lissy, Lola, Lannoy, Audrey, Shaefer, Elise, Chehadeh, Salima El, Amiel, Jeanne, Mignot, Cyril, Melki, Judith, Whalen, Sandra, Lackmy, Marilyn Irène, Funalot, Benoit, Morin, Gilles, Gérard, Marion, Gruchy, Nicolas, Molin, Arnaud, Toutain, Annick, Arpin, Stéphanie, Blesson, Sophie, Jeanne, Médéric, Isidor, Bertrand, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bonneau, Dominique, Colin, Estelle, Ziegler, Alban, Audebert-Bellanger, Séverine, Stoeva, Radka, Demurger, Florence, Thevenon, Julien, Francannet, Christine, Troude, Baptiste, Haye, Damien, Collignon, Patrick, Gilbert-Dussardier, Brigitte, Egloff, Mattieu, Le Guyader, Gwenaël, Letard, Pascaline, Sarrazin, Elisabeth, Giguet-Valard, Anna-Gaëlle, Damaj, Léna, Fradin, Mélanie, Lavillaureix, Alinoe, Jean-Marçais, Nolwenn, Morel, Godelieve, Quelin, Chloé, Naudion, Sophie, Legendre, Marine, Van-Gils, Julien, Rooryck-Thambo, Caroline, Boute, Odile, Dieux, Anne, Vincent-Delorme, Catherine, Ghoumid, Jamal, Vanlerberghe, Clémence, Caumes, Roseline, Colson, Cindy, Marsili, Luisa, Wyrebski, Antoine, Bellengier, Laurence, Houdayer, Françoise, Putoux, Audrey, Busa, Tiffany, Riccardi, Florence, Missirian, Chantal, Blanchet, Patricia, Haquet, Emmanuelle, Pinson, Lucile, Puechberty, Jacques, Wells, Constance, Capri, Yline, Perrin, Laurence, Passemard, Sandrine, Ruand, Lyse, Nambot, Sophie, Delanne, Julian, Moutton, Sébastien, Sorlin, Arthur, Lehalle, Daphné, Garde, Aurore

“…Abstract Background In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program…”
Get full text

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders by Ruault, Valentin, Burger, Pauline, Gradels‐Hauguel, Johanna, Ruiz, Nathalie, Jamra, Rami Abou, Afenjar, Alexandra, Alembik, Yves, Alessandri, Jean‐Luc, Arpin, Stéphanie, Barcia, Giulia, Bendová, Šárka, Bruel, Ange‐Line, Charles, Perrine, Chatron, Nicolas, Chopra, Maya, Conrad, Solène, Daire, Valérie Cormier, Cospain, Auriane, Coubes, Christine, Coursimault, Juliette, Delahaye‐Duriez, Andrée, Doco, Martine, Dufour, William, Durand, Benjamin, Engel, Camille, Faivre, Laurence, Ferroul, Fanny, Fradin, Mélanie, Frenkiel, Hélène, Fusco, Carlo, Garavelli, Livia, Garde, Aurore, Gerard, Bénédicte, Germanaud, David, Goujon, Louise, Gouronc, Aurélie, Ginglinger, Emmanuelle, Goldenberg, Alice, Hancarova, Miroslava, Havlovicová, Markéta, Heron, Delphine, Isidor, Bertrand, Marçais, Nolwenn Jean, Keren, Boris, Koch‐Hogrebe, Margarete, Kuentz, Paul, Lamure, Victoria, Lebre, Anne‐Sophie, Lecoquierre, François, Lehman, Natacha, Lesca, Gaetan, Lyonnet, Stanislas, Martin, Delphine, Mignot, Cyril, Neuhann, Teresa M., Nicolas, Gaël, Nizon, Mathilde, Petit, Florence, Philippe, Christophe, Piton, Amélie, Pollazzon, Marzia, Prchalová, Darina, Putoux, Audrey, Rio, Marlène, Rondeau, Sophie, Rossi, Massimiliano, Sabbagh, Quentin, Saugier‐Veber, Pascale, Schmetz, Ariane, Steffann, Julie, Thauvin‐Robinet, Christel, Toutain, Annick, Them, Frederic Tran Mau, Trimarchi, Gabriele, Vincent, Marie, Vlčková, Markéta, Wieczorek, Dagmar, Willems, Marjolaine, Yauy, Kevin, Zelinová, Michaela, Ziegler, Alban, Chaumette, Boris, Sadikovic, Bekim, Mandel, Jean‐Louis, Geneviève, David

“…Introduction and Methods We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from…”
Get full text