Interstitial lung disease reveals 48,XXYY syndrome in a child
Gros, Marion, Aissat, Abdel, Perez‐Martin, Stephanie, Abou Taam, Rola, Funalot, Benoit, Fanen, Pascale, Epaud, Ralph, Becdelievre, Alix
Published in Acta Paediatrica (01.05.2020)
Published in Acta Paediatrica (01.05.2020)
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Journal Article
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18
Hadouiri, Nawale, Thomas, Quentin, Darmency, Véronique, Dulieu, Véronique, De Rougemont, Marie‐Gabrielle Mourot, Bruel, Ange‐Line, Duffourd, Yannis, Lecoquierre, François, Colomb, Benoit, Perez‐Martin, Stéphanie, Ornetti, Paul, Blanchard, Olivier, Sorlin, Arthur, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin‐Robinet, Christel
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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Journal Article
Sudden Infant Death Associated with Rhinovirus Infection
Auvray, Christelle, Perez-Martin, Stéphanie, Schuffenecker, Isabelle, Pitoiset, Cécile, Tarris, Georges, Ambert-Balay, Katia, Martin, Laurent, Dullier-Taillefumier, Nathalie, Bour, Jean-Baptiste, Manoha, Catherine
Published in Viruses (01.04.2024)
Published in Viruses (01.04.2024)
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Journal Article
VEB-1 in Achromobacter xylosoxidans from cystic fibrosis patient, France
Neuwirth, Catherine, Freby, Carine, Ogier-Desserrey, Agathe, Perez-Martin, Stéphanie, Houzel, Anne, Péchinot, André, Duez, Jean-Marie, Huet, Fréderic, Siebor, Eliane
Published in Emerging infectious diseases (01.11.2006)
Published in Emerging infectious diseases (01.11.2006)
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CHILDREN HOSPITALIZED WITH RESPIRATORY SYNCYTIAL VIRUS INFECTION: A PRE VERSUS LATE COVID-19 PANDEMIC COMPARISON
Solus, Astrid, Huet, Frederic, Perez-Martin, Stephanie, Verney, Cindy, Auvray, Christelle, Binquet, Christine, Piroth, Lionel, Blot, Mathieu
Published in The Pediatric infectious disease journal (01.03.2024)
Published in The Pediatric infectious disease journal (01.03.2024)
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Risk factors for unexpected infant death among very premature infants in France
Bourneuf, Anne-Laure, Pabic, Estelle Le, de Visme, Sophie, Levieux, Karine, Pladys, Patrick, Cécile, Dubois, Pétronela, Rachieru-Sourisseau, Estelle, Darviot, Alain, De Broca, Clémence, Mougey, Adèle, Schiby, Julia, Pauls-Barsanti, Adeline, Robelin, Stéphane, Rioualen, Anne-Laure, Duigou, Mathilde, Granjon, Anne-Sophie, Trentesaux, Djamel, Sebbouh, Assia, Smail, Noella, Lode, Stéphanie, Perez-Martin, Anne-Pascale, Michard-Lenoir, Adbelihah, Tahir, Christine, Laguille, Delphine, Brouet, Camille, Le Stradic, Béatrice, Kugener, Alice, Cartallas, Patricia, Garcia-Meric, Inge, Harrewijn, Odile, Pidoux, Bénédicte, Vrignaud, Anne, Borsa-Dorion, Mickael, Afanetti, Caroline, Robin, Marie, Lebeau, Mariana, Englender, Célin, Farges, Juliette, Raghani, Maëlle, Monnier, Hugues, Patural, Audrey, Breining, Alexandre, Pupin, Gilles, Duthoit, Lucile, Barnet, Blandine, Cabaret, Yasmine, Plee, Aurélien, Galerne, Camille, Aupiais, Morgane, Dubourg, Marie, Kieffer, Blandine, Muanza, Guen, Christèle Gras Le
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2024)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2024)
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
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
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Journal Article
Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
Courcet, Jean-Benoît, MD, Faivre, Laurence, MD, PhD, Michot, Caroline, MD, Burguet, Antoine, MD, PhD, Perez-Martin, Stéphanie, MD, Alix, Eudeline, MSc, Amiel, Jeanne, MD, PhD, Baumann, Clarisse, MD, Cordier, Marie-Pierre, MD, Cormier-Daire, Valérie, MD, PhD, Delrue, Marie Ange, MD, Gilbert-Dussardier, Brigitte, MD, PhD, Goldenberg, Alice, MD, Jacquemont, Marie-Line, MD, Jaquette, Aurélia, MD, Kayirangwa, Honorine, MSc, Lacombe, Didier, MD, PhD, Le Merrer, Martine, MD, PhD, Toutain, Annick, MD, PhD, Odent, Sylvie, MD, PhD, Moncla, Anne, MD, PhD, Pelet, Anna, PhD, Philip, Nicole, MD, PhD, Pinson, Lucille, MD, Poisson, Sylvain, MSc, Kim-Han, Le Quan Sang, MD, Roume, Joelle, MD, Sanchez, Elodie, MSc, Willems, Marjolaine, MD, Till, Marianne, MD, Vincent-Delorme, Catherine, MD, Mousson, Christiane, MD, PhD, Vinault, Sandrine, MSc, Binquet, Christine, MD, PhD, Huet, Frédéric, MD, PhD, Sarda, Pierre, MD, PhD, Salomon, Rémi, MD, PhD, Lyonnet, Stanislas, MD, PhD, Sanlaville, Damien, MD, PhD, Geneviève, David, MD, PhD
Published in The Journal of pediatrics (01.09.2013)
Published in The Journal of pediatrics (01.09.2013)
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Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome
Atale, Agnès, Bonneau-Amati, Patrizia, Rötig, Agnès, Fischer, Alain, Perez-Martin, Stéphanie, de Lonlay, Pascale, Niaudet, Patrick, De Parscau, L, Mousson, C, Thauvin-Robinet, C, Munnich, A, Huet, F, Faivre, L
Published in European journal of medical genetics (01.01.2009)
Published in European journal of medical genetics (01.01.2009)
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Journal Article
Real-Life Safety and Effectiveness of Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis
Burgel, Pierre-Régis, Munck, Anne, Durieu, Isabelle, Chiron, Raphaël, Mely, Laurent, Prevotat, Anne, Murris-Espin, Marlene, Porzio, Michele, Abely, Michel, Reix, Philippe, Marguet, Christophe, Macey, Julie, Sermet-Gaudelus, Isabelle, Corvol, Harriet, Bui, Stéphanie, Lemonnier, Lydie, Dehillotte, Clémence, da Silva, Jennifer, Paillasseur, Jean-Louis, Hubert, Dominique, Mounard, Julie, Poulet, Claire, Rames, Cinthia, Person, Christine, Troussier, Françoise, Urban, Thierry, Dalphin, Marie-Laure, Dalphin, Jean-Claude, Pernet, Didier, Richaud-Thiriez, Bénédicte, Fayon, Mickael, Macey-Caro, Julie, Campbell, Karine, Laurans, Muriel, Borderon, Corinne, Heraud, Marie-Christine, Labbé, André, Montcouquiol, Sylvie, Bassinet, Laurence, Remus, Natascha, Fanton, Annlyse, Houzel-Charavel, Anne, Huet, Frédéric, Perez-Martin, Stéphanie, Boldron-Ghaddar, Amale, Scalbert, Manuela, Camara, Boubou, Llerena, Catherine, Pin, Isabelle, Quétant, Sébastien, Cottereau, Aurélie, Deschildre, Antoine, Gicquello, Alice, Perez, Thierry, Stervinou-Wemeau, Lidwine, Thumerelle, Caroline, Wallaert, Benoit, Wizla, Nathalie, Languepin, Jane, Ménétrey, Céline, Dupuy-Grasset, Magalie, Bazus, Lucie, Buchs, Clelia, Jubin, Virginie, Werck-Gallois, Marie-Christine, Mainguy, Catherine, Perrin, Thomas, Toutain-Rigolet, Agnès, Durieu, Isabelle, Durupt, Stéphane, Reynaud, Quitterie, Nove-Josserand, Raphaele, Baravalle-Einaudi, Melisande, Coltey, Bérangère, Dufeu, Nadine, Dubus, Jean-Christophe, Stremler, Nathalie, Caimmi, Davide, Billon, Yves, Derelle, Jocelyne, Kieffer, Sébastien, Pichon, Anne-Sophie, Schweitzer, Cyril, Tatopoulos, Aurélie, Abbes, Sarah, Bihouée, Tiphaine, Danner-Boucher, Isabelle, David, Valérie, Haloun, Alain, Tissot, Adrien, Leroy, Sylvie, Bailly-Piccini, Carole, Clément, Annick, Tamalet, Aline, Burgel, Pierre-Régis, Honoré, Isabelle, Kanaan, Reem, Martin, Clémence, Bailly, Cécile, Chédevergne, Frédérique
Published in American journal of respiratory and critical care medicine (15.01.2020)
Published in American journal of respiratory and critical care medicine (15.01.2020)
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345 Safe treatment of infantile hemangiomas with propranolol despite baseline bradycardia
Bonniaud, Bertille, Perez-Martin, Stéphanie, Bonnet, Caroline, Falcon-Eicher, Sylvie, Huet, Frédéric, Vabres, Pierre
Published in Archives of Cardiovascular Diseases Supplements (01.01.2012)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2012)
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Journal Article
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18
Hadouiri, Nawale, Thomas, Quentin, Darmency, Véronique, Dulieu, Véronique, De Rougemont, Marie-Gabrielle Mourot, Bruel, Ange-Line, Duffourd, Yannis, Lecoquierre, François, Colomb, Benoit, Perez-Martin, Stéphanie, Ornetti, Paul, Blanchard, Olivier, Sorlin, Arthur, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin-Robinet, Christel
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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