Randomised controlled trial demonstrates that fermented infant formula with short‐chain galacto‐oligosaccharides and long‐chain fructo‐oligosaccharides reduces the incidence of inf...

Por Vandenplas, Yvan, Ludwig, Thomas, Bouritius, Hetty, Alliet, Philippe, Forde, Derek, Peeters, Stefaan, Huet, Frederic, Hourihane, Jonathan
Publicado no Acta Paediatr (2017)

The CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening

Por Sermet-Gaudelus, Isabelle, Roussel, Delphine, Bui, Stéphanie, Deneuville, Eric, Huet, Frédéric, Reix, Philippe, Bellon, Gabriel, Lenoir, Gérard, Edelman, Aleksander
Publicado em 2006

Partly Fermented Infant Formulae With Specific Oligosaccharides Support Adequate Infant Growth and Are Well-Tolerated

Por Huet, Frédéric, Abrahamse-Berkeveld, Marieke, Tims, Sebastian, Simeoni, Umberto, Beley, Gérard, Savagner, Christoph, Vandenplas, Yvan, Hourihane, Jonathan O’B.
Publicado no J Pediatr Gastroenterol Nutr (2016)

VEB-1 in Achromobacter xylosoxidans from Cystic Fibrosis Patient, France

Por Neuwirth, Catherine, Freby, Carine, Ogier-Desserrey, Agathe, Perez-Martin, Stéphanie, Houzel, Anne, Péchinot, André, Duez, Jean-Marie, Huet, Fréderic, Siebor, Eliane
Publicado em 2006

Impact of community-acquired paediatric rotavirus gastroenteritis on family life: data from the REVEAL study

Por Talayero José MP, Maxwell Melanie, Littmann Martina, Huet Frédéric, Huelsse Christel, Gothefors Leif, Giaquinto Carlo, Van der Wielen Marie, Todd Peter, Vila Miguel T, Cantarutti Luigi, Van Damme Pierre
Publicado em 2010-03-01

Impact of community-acquired paediatric rotavirus gastroenteritis on family life: data from the REVEAL study

Por Van der Wielen, Marie, Giaquinto, Carlo, Gothefors, Leif, Huelsse, Christel, Huet, Frédéric, Littmann, Martina, Maxwell, Melanie, Talayero, José MP, Todd, Peter, Vila, Miguel T, Cantarutti, Luigi, Van Damme, Pierre
Publicado em 2010

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation

Por Mosca-Boidron, Anne-Laure, Faivre, Laurence, Aho, Serge, Marle, Nathalie, Truntzer, Caroline, Rousseau, Thierry, Ragon, Clémence, Payet, Muriel, Thauvin-Robinet, Christelle, Thevenon, Julien, Chehadeh, Salima El, Huet, Fréderic, Sagot, Paul, Mugneret, Francine, Callier, Patrick
Publicado em 2013

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Por El Chehadeh-Djebbar, Salima, Blair, Edward, Holder-Espinasse, Muriel, Moncla, Anne, Frances, Anne-Marie, Rio, Marlène, Debray, François-Guillaume, Rump, Patrick, Masurel-Paulet, Alice, Gigot, Nadège, Callier, Patrick, Duplomb, Laurence, Aral, Bernard, Huet, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence
Publicado em 2013

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Por Piton, Amélie, Poquet, Hélène, Redin, Claire, Masurel, Alice, Lauer, Julia, Muller, Jean, Thevenon, Julien, Herenger, Yvan, Chancenotte, Sophie, Bonnet, Marlène, Pinoit, Jean-Michel, Huet, Frédéric, Thauvin-Robinet, Christel, Jaeger, Anne-Sophie, Le Gras, Stéphanie, Jost, Bernard, Gérard, Bénédicte, Peoc'h, Katell, Launay, Jean-Marie, Faivre, Laurence, Mandel, Jean-Louis
Publicado em 2014

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Por Thevenon, Julien, Souchay, Céline, Seabold, Gail K, Dygai-Cochet, Inna, Callier, Patrick, Gay, Sébastien, Corbin, Lucie, Duplomb, Laurence, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, El Chehadeh, Salima, Avila, Magali, Minot, Delphine, Guedj, Eric, Chancenotte, Sophie, Bonnet, Marlène, Lehalle, Daphne, Wang, Ya-Xian, Kuentz, Paul, Huet, Frédéric, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Petralia, Ronald S, Faivre, Laurence
Publicado no Eur J Hum Genet (2016)

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Por Thauvin-Robinet, Christel, Auclair, Martine, Duplomb, Laurence, Caron-Debarle, Martine, Avila, Magali, St-Onge, Judith, Le Merrer, Martine, Le Luyer, Bernard, Héron, Delphine, Mathieu-Dramard, Michèle, Bitoun, Pierre, Petit, Jean-Michel, Odent, Sylvie, Amiel, Jeanne, Picot, Damien, Carmignac, Virginie, Thevenon, Julien, Callier, Patrick, Laville, Martine, Reznik, Yves, Fagour, Cédric, Nunes, Marie-Laure, Capeau, Jacqueline, Lascols, Olivier, Huet, Frédéric, Faivre, Laurence, Vigouroux, Corinne, Rivière, Jean-Baptiste
Publicado em 2013

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

Por Callier, Patrick, Calvel, Pierre, Matevossian, Armine, Makrythanasis, Periklis, Bernard, Pascal, Kurosaka, Hiroshi, Vannier, Anne, Thauvin-Robinet, Christel, Borel, Christelle, Mazaud-Guittot, Séverine, Rolland, Antoine, Desdoits-Lethimonier, Christèle, Guipponi, Michel, Zimmermann, Céline, Stévant, Isabelle, Kuhne, Françoise, Conne, Béatrice, Santoni, Federico, Lambert, Sandy, Huet, Frederic, Mugneret, Francine, Jaruzelska, Jadwiga, Faivre, Laurence, Wilhelm, Dagmar, Jégou, Bernard, Trainor, Paul A., Resh, Marilyn D., Antonarakis, Stylianos E., Nef, Serge
Publicado em 2014

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Por Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra, Sanlaville, Damien, Villeneuve, Nathalie, Darmency-Stamboul, Véronique, Toutain, Annick, Lefebvre, Mathilde, Chouchane, Mondher, Huet, Frédéric, Lafon, Arnaud, de Saint Martin, Anne, Lesca, Gaetan, El Chehadeh, Salima, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, Odent, Sylvie, Villard, Laurent, Philippe, Christophe, Faivre, Laurence, Rivière, Jean-Baptiste
Publicado em 2014

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Por Thauvin-Robinet, Christel, Lee, Jaclyn S., Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla A.M., St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M., Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, Nachury, Maxence V.
Publicado em 2014

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Por Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence
Publicado no Eur J Hum Genet (2016)

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Por Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane
Publicado no Hum Mutat (2016)

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Por Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie
Publicado no Eur J Hum Genet (2017)

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Por Carmignac, Virginie, Thevenon, Julien, Adès, Lesley, Callewaert, Bert, Julia, Sophie, Thauvin-Robinet, Christel, Gueneau, Lucie, Courcet, Jean-Benoit, Lopez, Estelle, Holman, Katherine, Renard, Marjolijn, Plauchu, Henri, Plessis, Ghislaine, De Backer, Julie, Child, Anne, Arno, Gavin, Duplomb, Laurence, Callier, Patrick, Aral, Bernard, Vabres, Pierre, Gigot, Nadège, Arbustini, Eloisa, Grasso, Maurizia, Robinson, Peter N., Goizet, Cyril, Baumann, Clarisse, Di Rocco, Maja, Sanchez Del Pozo, Jaime, Huet, Frédéric, Jondeau, Guillaume, Collod-Beroud, Gwenaëlle, Beroud, Christophe, Amiel, Jeanne, Cormier-Daire, Valérie, Rivière, Jean-Baptiste, Boileau, Catherine, De Paepe, Anne, Faivre, Laurence
Publicado em 2012