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Tytuł:
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities.
Autorzy:
Engel, Camille (AUTHOR)
Chevarin, Martin (AUTHOR)
Piard, Juliette (AUTHOR)
Abad, Marine (AUTHOR)
Thomas, Quentin (AUTHOR)
Carmignac, Virginie (AUTHOR)
Duffourd, Yannis (AUTHOR)
Lemesle‐Martin, Martine (AUTHOR)
Tarris, Georges (AUTHOR)
Thauvin‐Robinet, Christel (AUTHOR)
Vabres, Pierre (AUTHOR)
Faivre, Laurence (AUTHOR)
Kuentz, Paul (AUTHOR)
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Źródło:
Clinical Genetics. May2024, Vol. 105 Issue 5, p581-583. 3p.
Czasopismo naukowe
Szczegóły
Tytuł:
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Autorzy:
Shepherdson, James L. (AUTHOR)
Hutchison, Katie (AUTHOR)
Don, Dilan Wellalage (AUTHOR)
McGillivray, George (AUTHOR)
Choi, Tae-Ik (AUTHOR)
Allan, Carolyn A. (AUTHOR)
Amor, David J. (AUTHOR)
Banka, Siddharth (AUTHOR)
Basel, Donald G. (AUTHOR)
Buch, Laura D. (AUTHOR)
Carere, Deanna Alexis (AUTHOR)
Carroll, Renée (AUTHOR)
Clayton-Smith, Jill (AUTHOR)
Crawford, Ali (AUTHOR)
Dunø, Morten (AUTHOR)
Faivre, Laurence (AUTHOR)
Gilfillan, Christopher P. (AUTHOR)
Gold, Nina B. (AUTHOR)
Gripp, Karen W. (AUTHOR)
Hobson, Emma (AUTHOR)
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Źródło:
American Journal of Human Genetics. Mar2024, Vol. 111 Issue 3, p487-508. 22p.
Czasopismo naukowe
Szczegóły
Tytuł:
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Autorzy:
Favier, Maud
Delanne, Julian
Gorincour, Guillaume
Faivre, Laurence
Racine, Caroline
Philippe, Christophe
Duffourd, Yannis
Vitobello, Antonio
Rousseau, Thierry
Martz, Olivia
Tarris, Georges
Oualiken, Camélia
Thauvin‐Robinet, Christel
Mau‐Them, Frédéric Tran
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Źródło:
Prenatal Diagnosis; Mar2024, Vol. 44 Issue 3, p352-356, 5p
Czasopismo naukowe
Szczegóły
Tytuł:
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Autorzy:
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, Audrey Stephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley F.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips III, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Scott, C. Ron
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz Hubshman, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Paul, Maimuna S.
Michener, Sydney L.
Pan, Hongling
Chan, Hiuling
Pfliger, Jessica M.
Lerma, Vanesa C.
Tran, Alyssa
Longley, Megan A.
Weisz-Hubshman, Monika
Bekheirnia, Mir Reza
Bekheirnia, Nasim
Massingham, Lauren
Zech, Michael
Wagner, Matias
Engels, Hartmut
Cremer, Kirsten
Mangold, Elisabeth
Peters, Sophia
Trautmann, Jessica
Perne, Claudia
Mester, Jessica L.
Guillen Sacoto, Maria J.
Person, Richard
McDonnell, Pamela P.
Cohen, Stacey R.
Lusk, Laina
Cohen, Ana S.A.
Le Pichon, Jean-Baptiste
Pastinen, Tomi
Zhou, Dihong
Engleman, Kendra
Racine, Caroline
Faivre, Laurence
Moutton, Sébastien
Denommé-Pichon, Anne-Sophie
Koh, Hyun Yong
Poduri, Annapurna
Bolton, Jeffrey
Knopp, Cordula
Julia Suh, Dong Sun
Maier, Andrea
Toosi, Mehran Beiraghi
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Schaefer, Gerald Bradley
Ramakumaran, Vijayalakshmi
Vasudevan, Pradeep
Banos-Pinero, Benito
Pagnamenta, Alistair T.
Prasad, Chitra
Osmond, Matthew
Schuhmann, Sarah
Vasileiou, Georgia
Russ-Hall, Sophie
Scheffer, Ingrid E.
Carvill, Gemma L.
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Źródło:
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Czasopismo naukowe
Szczegóły
Tytuł:
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Autorzy:
Ruault V; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Burger P; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
Gradels-Hauguel J; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.
Ruiz N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France.
Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Alessandri JL; CHU La Réunion, Service de génétique, Saint Denis, France.
Arpin S; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France.
Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Bendová Š; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.
Charles P; APHP La Pitié Salpétrière, Paris, France.
Chatron N; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France.
Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetic Department, Harvard Medical School, Boston, Massachusetts, USA.
Conrad S; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Daire VC; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Cospain A; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
Coubes C; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.; Genetic Department, Inserm 1141 NeuroDiderot, Paris, France.
Doco M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.
Dufour W; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.
Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Engel C; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France.
Faivre L; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Ferroul F; CHU La Réunion, Service de génétique, Saint Denis, France.
Fradin M; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.; CH Saint Brieuc, Service de Génétique, Saint Brieux, France.
Frenkiel H; Xtraordinaire Association, Paris, France.
Fusco C; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Garde A; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Gerard B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Germanaud D; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France.
Goujon L; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France.
Gouronc A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Ginglinger E; Génétique médicale GHRMSA, Hopital Emile Muller, Mulhouse, France.
Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Havlovicová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Heron D; APHP Trousseau, Paris, France.
Isidor B; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Marçais NJ; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France.
Koch-Hogrebe M; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Kuentz P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France.
Lamure V; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.
Lebre AS; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.; Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, Paris, France.
Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Lehman N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France.
Lyonnet S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Laboratoire Embryologie et Génétique des Malformations, Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.
Martin D; Xtraordinaire Association, Paris, France.
Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France.
Neuhann TM; Genetic Department, Medizinisch Genetisches Zentrum, Munich, Germany.
Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Nizon M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Petit F; Genetic Department, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.
Piton A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Pollazzon M; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Prchalová D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Putoux A; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Rossi M; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
Sabbagh Q; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Schmetz A; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Steffann J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Toutain A; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France.
Them FTM; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.
Trimarchi G; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Vincent M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Vlčková M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Willems M; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Yauy K; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Zelinová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Ziegler A; Genetic Department, Service de Génétique, CHU d'Angers, Angers Cedex 9, France.
Chaumette B; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, Université Paris Cité, INSERM U1266, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada.
Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.
Mandel JL; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Genetic Department, University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France.
Geneviève D; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Pokaż więcej
Corporate Authors:
Xtraordinaire; Xtraordinaire Association, Paris, France.
GENIDA Project; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.
Typ publikacji:
Journal Article
MeSH Terms:
Attention Deficit Disorder with Hyperactivity*/genetics
Attention Deficit Disorder with Hyperactivity*/therapy
Caregivers*
Child, Preschool ; Humans ; DEAD-box RNA Helicases ; Self Report ; Infant
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Autorzy:
Smolen, Corrine (AUTHOR)
Jensen, Matthew (AUTHOR)
Dyer, Lisa (AUTHOR)
Pizzo, Lucilla (AUTHOR)
Tyryshkina, Anastasia (AUTHOR)
Banerjee, Deepro (AUTHOR)
Rohan, Laura (AUTHOR)
Huber, Emily (AUTHOR)
El Khattabi, Laila (AUTHOR)
Prontera, Paolo (AUTHOR)
Caberg, Jean-Hubert (AUTHOR)
Van Dijck, Anke (AUTHOR)
Schwartz, Charles (AUTHOR)
Faivre, Laurence (AUTHOR)
Callier, Patrick (AUTHOR)
Mosca-Boidron, Anne-Laure (AUTHOR)
Lefebvre, Mathilde (AUTHOR)
Pope, Kate (AUTHOR)
Snell, Penny (AUTHOR)
Lockhart, Paul J. (AUTHOR)
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Źródło:
American Journal of Human Genetics. Dec2023, Vol. 110 Issue 12, p2015-2028. 14p.
Czasopismo naukowe
Szczegóły
Tytuł:
Exome sequencing in the etiologic assessment of the stroke of the young.
Autorzy:
Mania-Pâris, Loraine (AUTHOR)
Thomas, Quentin (AUTHOR)
Vitobello, Antonio (AUTHOR)
Mau-Them, Frédéric Tran (AUTHOR)
Duffourd, Yannis (AUTHOR)
Graber, Mathilde (AUTHOR)
Hervieu-Begue, Marie (AUTHOR)
Osseby, Guy Victor (AUTHOR)
Mohr, Sophie (AUTHOR)
Labarre, Christelle Blanc (AUTHOR)
Nambot, Sophie (AUTHOR)
Bruel, Ange-Line (AUTHOR)
Denomme-Pichon, Anne-Sophie (AUTHOR)
Thauvin-Robinet, Christel (AUTHOR)
Olivier-Faivre, Laurence (AUTHOR)
Bejot, Yannick (AUTHOR)
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Źródło:
Journal of the Neurological Sciences. 2023 Supplement, Vol. 455, pN.PAG-N.PAG. 1p.
Czasopismo naukowe
Szczegóły
Tytuł:
Spectre clinique et mutationnel des malformations vasculaires cutanées hypertrophiques associées aux variants de PIK3R1
Autorzy:
Kuentz, Paul
Engel, Camille
Laeng, Mathieu
Chevarin, Martin
Aubert, Hélène
Mercier, Sandra
Isidor, Bertrand
Phan, Alice
Boccara, Olivia
Bessis, Didier
Morice-Picard, Fanny
Ott, Hagen
Guérot, Anne-Marie
Mazereeuw-Hautier, Juliette
Maruani, Annabel
Puzenat, Eve
Thauvin-Robinet, Christel
Faivre, Laurence
Vabres, Pierre
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Źródło:
In Morphologie December 2023 107(359) Supplement
Czasopismo naukowe
Szczegóły
Tytuł:
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations.
Autorzy:
Faivre, Laurence (AUTHOR) laurence.faivre@chu-dijon.fr
Crépin, Jean‐Charles (AUTHOR)
Réda, Manon (AUTHOR)
Nambot, Sophie (AUTHOR)
Carmignac, Virginie (AUTHOR)
Abadie, Caroline (AUTHOR)
Mirault, Tristan (AUTHOR)
Faure‐Conter, Cécile (AUTHOR)
Mazereeuw‐Hautier, Juliette (AUTHOR)
Maza, Aude (AUTHOR)
Puzenat, Eve (AUTHOR)
Collonge‐Rame, Marie‐Agnès (AUTHOR)
Bursztejn, Anne‐Claire (AUTHOR)
Philippe, Christophe (AUTHOR)
Thauvin‐Robinet, Christel (AUTHOR)
Chevarin, Martin (AUTHOR)
Abasq‐Thomas, Claire (AUTHOR)
Amiel, Jeanne (AUTHOR)
Arpin, Stéphanie (AUTHOR)
Barbarot, Sébastien (AUTHOR)
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Źródło:
Clinical Genetics. Nov2023, Vol. 104 Issue 5, p554-563. 10p.
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 883

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