A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies

Autor: Viollet, Louis M., Swoboda, Kathryn J., Mao, Rong, Best, Hunter, Ha, Youna, Toutain, Annick, Guyant-Marechal, Lucie, Laroche-Raynaud, Cecile, Ghorab, Karima, Barthez, Marie Anne, Pedespan, Jean Michel, Hernandorena, Xavier, Lia, Anne-Sophie, Deleuze, Jean-Francois, Masson, Cecile, Nelson, Isabelle, Nectoux, Juliette, Si, Yue

Publikováno v: In European Journal of Medical Genetics December 2020 63(12)

Survival and Morbidity of Preterm Children Born at 22 Through 34 Weeks’ Gestation in France in 2011

Autor: Ancel, Pierre-Yves, Goffinet, François, Kuhn, Pierre, Langer, Bruno, Matis, Jacqueline, Hernandorena, Xavier, Chabanier, Pierre, Joly-Pedespan, Laurence, Lecomte, Bénédicte, Vendittelli, Françoise, Dreyfus, Michel, Guillois, Bernard, Burguet, Antoine, Sagot, Pierre, Sizun, Jacques, Beuchée, Alain, Rouget, Florence, Favreau, Amélie, Saliba, Elie, Bednarek, Nathalie, Morville, Patrice, Thiriez, Gérard, Marpeau, Loïc, Marret, Stéphane, Kayem, Gilles, Durrmeyer, Xavier, Granier, Michèle, Baud, Olivier, Jarreau, Pierre-Henri, Mitanchez, Delphine, Boileau, Pascal, Boulot, Pierre, Cambonie, Gilles, Daudé, Hubert, Bédu, Antoine, Mons, Fabienne, Fresson, Jeanne, Vieux, Rachel, Alberge, Catherine, Arnaud, Catherine, Vayssiere, Christophe, Truffert, Patrick, Pierrat, Véronique, Subtil, Damien, d’Ercole, Claude, Gire, Catherine, Siméoni, Umberto, Bongain, André, Sentilhes, Loïc, Roze, Jean-Christophe, Gondry, Jean, Leke, André, Deiber, Michel, Claris, Olivier, Picaud, Jean-Charles, Ego, Anne, Debillon, Thierry, Poulichet, Anne, Coliné, Eliane, Favre, Anne, Fléchelles, Olivier, Samperiz, Sylvain, Ramful, Duksha, Branger, Bernard, Benhammou, Valérie, Foix-L’Hélias, Laurence, Marchand-Martin, Laetitia, Kaminski, Monique

Publikováno v: Medicine Archives of Pediatrics & Adolescent-JAMA Pediatrics
Medicine Archives of Pediatrics & Adolescent-JAMA Pediatrics, American Medical Association-JAMA Network, 2015, 169 (3), pp.230. ⟨10.1001/jamapediatrics.2014.3351⟩
Medicine Archives of Pediatrics & Adolescent-JAMA Pediatrics, 2015, 169 (3), pp.230. ⟨10.1001/jamapediatrics.2014.3351⟩

International audience; Importance Up-to-date estimates of the health outcomes of preterm children are needed for assessing perinatal care, informing parents, making decisions about care, and providing evidence for clinical guidelines. Objectives To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a18414d4f01b85ee0f7942aff53dd449
https://hal-normandie-univ.archives-ouvertes.fr/hal-02462370

Survival and morbidity of preterm children born at 22 through 34 weeks' gestation in France in 2011: results of the EPIPAGE-2 cohort study.

Autor: Ancel PY; Obstetrical, Perinatal, and Pediatric Epidemiology Team, Epidemiology and Biostatistics Sorbonne Paris Cité Research Center (U1153), INSERM, Paris, France2Paris Descartes University, Paris, France3Clinical Research Unit, Center for Clinical Investigation., Goffinet F; Obstetrical, Perinatal, and Pediatric Epidemiology Team, Epidemiology and Biostatistics Sorbonne Paris Cité Research Center (U1153), INSERM, Paris, France2Paris Descartes University, Paris, France4Maternité Port-Royal, Hospital University Department Risks., Kuhn P; University Hospital, Strasbourg, France., Langer B; University Hospital, Strasbourg, France., Matis J; University Hospital, Strasbourg, France., Hernandorena X; La Côte Basque Hospital, Bayonne, France., Chabanier P; University Hospital, Bordeaux, France., Joly-Pedespan L; University Hospital, Bordeaux, France., Lecomte B; University Hospital Estaing, Clermont-Ferrand, France., Vendittelli F; University Hospital Estaing, Clermont-Ferrand, France., Dreyfus M; Department of Gynecology and Obstetrics, University Hospital, Caen, France., Guillois B; Department of Neonatal Pediatrics and Intensive Care, University Hospital, Caen, France., Burguet A; Department of Neonatal Pediatrics, University Hospital, Dijon, France., Sagot P; Department of Gynecology and Obstetrics, University Hospital, Dijon, France., Sizun J; University Hospital, Brest, France., Beuchée A; Department of Pediatrics, University Hospital, Inserm-Irset U 1085, Rennes, France., Rouget F; Department of Pediatrics, University Hospital, Inserm-Irset U 1085, Rennes, France., Favreau A; Department of Neonatal Pediatrics and Intensive Care, University Hospital, Tours, France., Saliba E; INSERM U 930, François Rabelais University, Tours, France., Bednarek N; Department of Neonatal Pediatrics, University Hospital, Reims, France., Morville P; Department of Neonatal Pediatrics, University Hospital, Reims, France., Thiriez G; Department of Neonatal Pediatrics, University Hospital, Besançon, France., Marpeau L; Department of Gynecology and Obstetrics, University Hospital, Rouen, France., Marret S; Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital-Laboratory of microvascular endothelium and neonatal brain lesions, Rouen, France., Kayem G; Department of Obstetrics and Gynecology, Louis Mourier Hospital, University Hospitals Paris Nord Val de Seine (HUPNVS)), Assistance Publique-Paris Hospitals (APHP), Paris Diderot University, Paris, France., Durrmeyer X; Department of Neonatal Pediatrics and Intensive Care, CHI, CRC, Créteil, France., Granier M; Department of Neonatal Pediatrics, Sud Francilien Hospital, Evry, France., Baud O; Neonatal intensive care unit, Robert Debré Hospital, INSERM, UMR 676, Paris, France., Jarreau PH; Department of Neonatal Pediatrics and Intensive Care, Cochin Hotel Dieu Hospital, Paris, France., Mitanchez D; Department of Neonatal Pediatrics, Trousseau Hospital, Paris, France., Boileau P; Department of Neonatal Pediatrics, Poissy Saint Germain University Hospital, Poissy, France., Boulot P; Department of Obstetrics and Gynecology, Arnaud de Villeneuve Hospital, Montpellier, France., Cambonie G; Department of Neonatal Pediatrics and Intensive Care, Arnaud de Villeneuve Hospital, Montpellier, France., Daudé H; CAMSP, University Hospital, Montpellier, France., Bédu A; Department of Neonatal Pediatrics, Mère-Enfant Hospital, Limoges, France., Mons F; Department of Neonatal Pediatrics, Mère-Enfant Hospital, Limoges, France., Fresson J; Department of Medical Information, Adolphe Pinard Maternity Unit, Nancy, France., Vieux R; Department of Neonatal Pediatrics and Intensive Care, Adolphe Pinard Maternity Unit, Nancy, France., Alberge C, Arnaud C; UMR 1027 INSERM, Paul-Sabatier Toulouse III University, Toulouse, France., Vayssière C; Department of Obstetrics and Gynecology, Toulouse, France., Truffert P; Department of Neonatal Pediatrics, Jeanne de Flandres Hospital, Lille, France., Pierrat V; Department of Neonatal Pediatrics, Jeanne de Flandres Hospital, Lille, France., Subtil D; Department of Gynecology and Obstetrics, Jeanne de Flandre Hospital, Lille, France., D'Ercole C; Department of Gynecology and Obstetrics, Nord Hospital, Marseille, France., Gire C; Department of Neonatal Pediatrics and Intensive Care, Nord Hospital, Marseille, France., Simeoni U; Department of Neonatal Pediatrics and Intensive Care, La Conception Hospital, Marseille, France., Bongain A; Department of Gynecology and Obstetrics, Archet Hospital, Nice, France., Sentilhes L; Department of Obstetrics and Gynecology, Angers University Hospital, Angers, France., Rozé JC; Department of Neonatal Medicine, Angers University Hospital and INSERM CIC 004, Nantes, France., Gondry J; Department of Obstetrics and gynecology, Amiens, France., Leke A; Department of Pediatrics, Amiens, France., Deiber M; Department of Pediatrics, Chambéry, France., Claris O; Department of Neonatal Pediatrics and Intensive Care, University Hospital, Lyon, France., Picaud JC; Department of Neonatal Pediatrics and Intensive Care, La Croix Rousse Hospital, Lyon, France., Ego A; INSERM CIC003, University Hospital, Grenoble, France., Debillon T; Department of Neonatal Pediatrics, University Hospital, Grenoble, France., Poulichet A; University Hospital, Pointe à Pitre, Guadeloupe, France., Coliné E; University Hospital, Pointe à Pitre, Guadeloupe, France., Favre A; Department of Neonatal Pediatrics and Intensive Care, Cayenne Hospital, Cayenne, Guyane, France., Fléchelles O; University Hospital, Fort de France, Martinique., Samperiz S; Department of Neonatal Pediatrics and Intensive Care, University Hospital Felix Guyon, Saint-Denis, La Réunion, France., Ramful D; Department of Neonatal Pediatrics and Intensive Care, University Hospital Felix Guyon, Saint-Denis, La Réunion, France., Branger B; Fédération des Réseaux de Santé en Périnatalité [FFRSP], Nantes, France., Benhammou V; Inserm UMR1153, Perinatal and Pediatric Epidemiology Team, Paris, France., Foix-L'Hélias L; Inserm UMR1153, Perinatal and Pediatric Epidemiology Team, Paris, France., Marchand-Martin L; Inserm UMR1153, Perinatal and Pediatric Epidemiology Team, Paris, France., Kaminski M; Inserm UMR1153, Perinatal and Pediatric Epidemiology Team, Paris, France.

Publikováno v: JAMA pediatrics [JAMA Pediatr] 2015 Mar; Vol. 169 (3), pp. 230-8.