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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Author / Creator:Poirier, Karine ; Lebrun, Nicolas ; Broix, Loic ; Tian, Guoling ; Saillour, Yoann ; Boscheron, Cécile ; Parrini, Elena ; Valence, Stephanie ; Pierre, Benjamin Saint ; Oger, Madison ; Lacombe, Didier ; Geneviève, David ; Fontana, Elena ; Darra, Franscesca ; Cances, Claude ; Barth, Magalie ; Bonneau, Dominique ; Bernadina, Bernardo Dalla ; N'Guyen, Sylvie ; Gitiaux, Cyril ; Parent, Philippe ; des Portes, Vincent ; Pedespan, Jean Michel ; Legrez, Victoire ; Castelnau-Ptakine, Laetitia ; Nitschke, Patrick ; Hieu, Thierry ; Masson, Cecile ; Zelenika, Diana ; Andrieux, Annie ; Francis, Fiona ; Guerrini, Renzo ; Cowan, Nicholas J ; Bahi-Buisson, Nadia ; Chelly, Jamel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-06, Vol.45 (6), p.639-647
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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
Author / Creator:Romero, Delfina M. ; Poirier, Karine ; Belvindrah, Richard ; Moutkine, Imane ; Houllier, Anne ; LeMoing, Anne-Gaëlle ; Petit, Florence ; Boland, Anne ; Collins, Stephan C. ; Soiza-Reilly, Mariano ; Yalcin, Binnaz ; Chelly, Jamel ; Deleuze, Jean-François ; Bahi-Buisson, Nadia ; Francis, Fiona
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-05, Vol.13 (1), p.2746-2746, Article 2746
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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
Author / Creator:Broix, Loïc ; Jagline, Hélène ; L Ivanova, Ekaterina ; Schmucker, Stéphane ; Drouot, Nathalie ; Clayton-Smith, Jill ; Pagnamenta, Alistair T ; Metcalfe, Kay A ; Isidor, Bertrand ; Louvier, Ulrike Walther ; Poduri, Annapurna ; Taylor, Jenny C ; Tilly, Peggy ; Poirier, Karine ; Saillour, Yoann ; Lebrun, Nicolas ; Stemmelen, Tristan ; Rudolf, Gabrielle ; Muraca, Giuseppe ; Saintpierre, Benjamin ; Elmorjani, Adrienne ; Moïse, Martin ; Weirauch, Nathalie Bednarek ; Guerrini, Renzo ; Boland, Anne ; Olaso, Robert ; Masson, Cecile ; Tripathy, Ratna ; Keays, David ; Beldjord, Cherif ; Nguyen, Laurent ; Godin, Juliette ; Kini, Usha ; Nischké, Patrick ; Deleuze, Jean-François ; Bahi-Buisson, Nadia ; Sumara, Izabela ; Hinckelmann, Maria-Victoria ; Chelly, Jamel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2016-11, Vol.48 (11), p.1349-1358
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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Author / Creator:Depienne, Christel ; Bouteiller, Delphine ; Keren, Boris ; Cheuret, Emmanuel ; Poirier, Karine ; Trouillard, Oriane ; Benyahia, Baya ; Quelin, Chloé ; Carpentier, Wassila ; Julia, Sophie ; Afenjar, Alexandra ; Gautier, Agnès ; Rivier, François ; Meyer, Sophie ; Berquin, Patrick ; Hélias, Marie ; Py, Isabelle ; Rivera, Serge ; Bahi-Buisson, Nadia ; Gourfinkel-An, Isabelle ; Cazeneuve, Cécile ; Ruberg, Merle ; Brice, Alexis ; Nabbout, Rima ; LeGuern, Eric
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2009-02, Vol.5 (2), p.e1000381-e1000381
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Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human
Author / Creator:Kielar, Michel ; Tuy, Françoise Phan Dinh ; Bizzotto, Sara ; Lebrand, Cécile ; de Juan Romero, Camino ; Poirier, Karine ; Oegema, Renske ; Mancini, Grazia Maria ; Bahi-Buisson, Nadia ; Olaso, Robert ; Le Moing, Anne-Gaëlle ; Boutourlinsky, Katia ; Boucher, Dominique ; Carpentier, Wassila ; Berquin, Patrick ; Deleuze, Jean-François ; Belvindrah, Richard ; Borrell, Victor ; Welker, Egbert ; Chelly, Jamel ; Croquelois, Alexandre ; Francis, Fiona
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2014-07, Vol.17 (7), p.923-933
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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
Author / Creator:Poirier, Karine ; Saillour, Yoann ; Fourniol, Franck ; Francis, Fiona ; Souville, Isabelle ; Valence, Stéphanie ; Desguerre, Isabelle ; Marie Lepage, Jean ; Boddaert, Nathalie ; Line Jacquemont, Marine ; Beldjord, Cherif ; Chelly, Jamel ; Bahi-Buisson, Nadia
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.381-385
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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
Author / Creator:Poirier, Karine ; Keays, David A ; Francis, Fiona ; Saillour, Yoann ; Bahi, Nadia ; Manouvrier, Sylvie ; Fallet-Bianco, Catherine ; Pasquier, Laurent ; Toutain, Annick ; Tuy, Françoise Phan Dinh ; Bienvenu, Thierry ; Joriot, Sylvie ; Odent, Sylvie ; Ville, Dorothée ; Desguerre, Isabelle ; Goldenberg, Alice ; Moutard, Marie-Laure ; Fryns, Jean-Pierre ; van Esch, Hilde ; Harvey, Robert J ; Siebold, Christian ; Flint, Jonathan ; Beldjord, Chérif ; Chelly, Jamel
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-11, Vol.28 (11), p.1055-1064
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In vitro follicular growth affects oocyte imprinting establishment in mice
Author / Creator:Kerjean, Antoine ; Couvert, Philippe ; Heams, Thomas ; Chalas, Céline ; Poirier, Karine ; Chelly, Jamel ; Jouannet, Pierre ; Paldi, Andras ; Poirot, Catherine
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2003-07, Vol.11 (7), p.493-496
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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability
Author / Creator:Pagan, Cecile ; Botros, Hany Goubran ; Poirier, Karine ; Dumaine, Anne ; Jamain, Stéphane ; Moreno, Sarah ; de Brouwer, Arjan ; Van Esch, Hilde ; Delorme, Richard ; Launay, Jean-Marie ; Tzschach, Andreas ; Kalscheuer, Vera ; Lacombe, Didier ; Briault, Sylvain ; Laumonnier, Frédéric ; Raynaud, Martine ; van Bon, Bregje W ; Willemsen, Marjolein H ; Leboyer, Marion ; Chelly, Jamel ; Bourgeron, Thomas
Publisher:England: BioMed Central Ltd
Journal title:BMC genetics, 2011-01, Vol.12 (1), p.17-17, Article 17
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Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Author / Creator:Depienne, Christel ; Bouteiller, Delphine ; Keren, Boris ; Cheuret, Emmanuel ; Poirier, Karine ; Trouillard, Oriane ; Benyahia, Baya ; Quelin, Chloé ; Carpentier, Wassila ; Julia, Sophie ; Afenjar, Alexandra ; Gautier, Agnès ; Rivier, François ; Meyer, Sophie ; Berquin, Patrick ; Hélias, Marie ; Py, Isabelle ; Rivera, Serge ; Bahi-Buisson, Nadia ; Gourfinkel-An, Isabelle ; Cazeneuve, Cécile ; Ruberg, Merle ; Brice, Alexis ; Nabbout, Rima ; LeGuern, Eric
Publisher:San Francisco, USA: Public Library of Science
Journal title:PLoS genetics, 2009-04, Vol.5 (4)
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Loss of Function of KCNC1 is associated with intellectual disability without seizures
Author / Creator:Poirier, Karine ; Viot, Géraldine ; Lombardi, Laura ; Jauny, Clémence ; Billuart, Pierre ; Bienvenu, Thierry
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.560-564
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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders
Author / Creator:Wang, Huilun H. ; Lin, Liangguang L. ; Li, Zexin J. ; Wei, Xiaoqiong ; Askander, Omar ; Cappuccio, Gerarda ; Hashem, Mais O. ; Hubert, Laurence ; Munnich, Arnold ; Alqahtani, Mashael ; Pang, Qi ; Burmeister, Margit ; Lu, You ; Poirier, Karine ; Besmond, Claude ; Sun, Shengyi ; Brunetti-Pierri, Nicola ; Alkuraya, Fowzan S. ; Qi, Ling
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2024-01, Vol.134 (2), p.1-15
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De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures
Author / Creator:Hubert, Laurence ; Cannata Serio, Magda ; Villoing-Gaudé, Laure ; Boddaert, Nathalie ; Kaminska, Anna ; Rio, Marlène ; Lyonnet, Stanislas ; Munnich, Arnold ; Poirier, Karine ; Simons, Matias ; Besmond, Claude
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-02, Vol.57 (2), p.138-144
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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
Author / Creator:Jaglin, Xavier Hubert ; Poirier, Karine ; Saillour, Yoann ; Buhler, Emmanuelle ; Tian, Guoling ; Bahi-Buisson, Nadia ; Fallet-Bianco, Catherine ; Phan-Dinh-Tuy, Françoise ; Kong, Xiang Peng ; Bomont, Pascale ; Castelnau-Ptakhine, Laëtitia ; Odent, Sylvie ; Loget, Philippe ; Kossorotoff, Manoelle ; Snoeck, Irina ; Plessis, Ghislaine ; Parent, Philippe ; Beldjord, Cherif ; Cardoso, Carlos ; Represa, Alfonso ; Flint, Jonathan ; Keays, David Anthony ; Cowan, Nicholas Justin ; Chelly, Jamel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-06, Vol.41 (6), p.746-752
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Experience and Appreciation of Health Care Teams Regarding a New Model of Pharmaceutical Care in Long-Term Care Settings
Author / Creator:Turcotte, Véronique ; Kröger, Edeltraut ; Rouleau, Rachel ; Durand, Étienne ; Poirier, Karine ; Guénette, Line
Publisher:New York, USA: Cambridge University Press
Journal title:Canadian journal on aging, 2022-09, Vol.41 (3), p.421-430
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Author / Creator:Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle M. ; Schramm, Catherine ; Zamora, Francisca Millan ; Shanmugham, Anita ; Liu, Shuxi ; Zou, Fanggeng ; Bilan, Frédéric ; Le Guyader, Gwenaël ; Bruel, Ange-Line ; Denommé-Pichon, Anne-Sophie ; Faivre, Laurence ; Tran Mau-Them, Frédéric ; Tessarech, Marine ; Colin, Estelle ; El Chehadeh, Salima ; Gérard, Bénédicte ; Schaefer, Elise ; Cogne, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Doummar, Diane ; Valence, Stéphanie ; Héron, Delphine ; Keren, Boris ; Mignot, Cyril ; Coutton, Charles ; Devillard, Françoise ; Alaix, Anne-Sophie ; Amiel, Jeanne ; Colleaux, Laurence ; Munnich, Arnold ; Poirier, Karine ; Rio, Marlène ; Rondeau, Sophie ; Barcia, Giulia ; Callewaert, Bert ; Dheedene, Annelies ; Kumps, Candy ; Vergult, Sarah ; Menten, Björn ; Chung, Wendy K. ; Hernan, Rebecca ; Larson, Austin ; Nori, Kelly ; Stewart, Sarah ; Wheless, James ; Kresge, Christina ; Pletcher, Beth A. ; Caumes, Roseline ; Smol, Thomas ; Sigaudy, Sabine ; Coubes, Christine ; Helm, Margaret ; Smith, Rosemarie ; Morrison, Jennifer ; Wheeler, Patricia G. ; Kritzer, Amy ; Jouret, Guillaume ; Afenjar, Alexandra ; Deleuze, Jean-François ; Olaso, Robert ; Boland, Anne ; Poitou, Christine ; Frebourg, Thierry ; Houdayer, Claude ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lecoquierre, François
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-01, Vol.141 (1), p.65-80
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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
Author / Creator:Laquerriere, Annie ; Maillard, Camille ; Cavallin, Mara ; Chapon, Françoise ; Marguet, Florent ; Molin, Arnaud ; Sigaudy, Sabine ; Blouet, Marie ; Benoist, Guillaume ; Fernandez, Carla ; Poirier, Karine ; Chelly, Jamel ; Thomas, Sophie ; Bahi-Buisson, Nadia
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2017-03, Vol.76 (3), p.195-205
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
Author / Creator:Fallet-Bianco, Catherine ; Laquerrière, Annie ; Poirier, Karine ; Razavi, Ferechte ; Guimiot, Fabien ; Dias, Patricia ; Loeuillet, Laurence ; Lascelles, Karine ; Beldjord, Cherif ; Carion, Nathalie ; Toussaint, Aurélie ; Revencu, Nicole ; Addor, Marie-Claude ; Lhermitte, Benoit ; Gonzales, Marie ; Martinovich, Jelena ; Bessieres, Bettina ; Marcy-Bonnière, Maryse ; Jossic, Frédérique ; Marcorelles, Pascale ; Loget, Philippe ; Chelly, Jamel ; Bahi-Buisson, Nadia
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2014-07, Vol.2 (1), p.69-69, Article 69
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Author / Creator:Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle ; Schramm, Catherine ; Zamora, Francisca Millan ; Shanmugham, Anita ; Liu, Shuxi ; Zou, Fanggeng ; Bilan, Frédéric ; Le Guyader, Gwenaël ; Bruel, Ange-Line ; Denommé-Pichon, Anne-Sophie ; Faivre, Laurence ; Tran Mau-Them, Frédéric ; Tessarech, Marine ; Colin, Estelle ; El Chehadeh, Salima ; Gérard, Bénédicte ; Schaefer, Elise ; Cogne, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Doummar, Diane ; Valence, Stéphanie ; Héron, Delphine ; Keren, Boris ; Mignot, Cyril ; Coutton, Charles ; Devillard, Françoise ; Alaix, Anne-Sophie ; Amiel, Jeanne ; Colleaux, Laurence ; Munnich, Arnold ; Poirier, Karine ; Rio, Marlène ; Rondeau, Sophie ; Barcia, Giulia ; Callewaert, Bert ; Dheedene, Annelies ; Kumps, Candy ; Vergult, Sarah ; Menten, Björn ; Chung, Wendy ; Hernan, Rebecca ; Larson, Austin ; Nori, Kelly ; Stewart, Sarah ; Wheless, James ; Kresge, Christina ; Pletcher, Beth ; Caumes, Roseline ; Smol, Thomas ; Sigaudy, Sabine ; Coubes, Christine ; Helm, Margaret ; Smith, Rosemarie ; Morrison, Jennifer ; Wheeler, Patricia ; Kritzer, Amy ; Jouret, Guillaume ; Afenjar, Alexandra ; Deleuze, Jean-François ; Olaso, Robert ; Boland, Anne ; Poitou, Christine ; Frebourg, Thierry ; Houdayer, Claude ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lecoquierre, François
Publisher:Springer Verlag
Journal title:Human genetics, 2022-01, Vol.141 (1), p.65-80
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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Author / Creator:Zillhardt, Julia Lauer ; Poirier, Karine ; Broix, Loïc ; Lebrun, Nicolas ; Elmorjani, Adrienne ; Martinovic, Jelena ; Saillour, Yoann ; Muraca, Giuseppe ; Nectoux, Juliette ; Bessieres, Bettina ; Fallet-Bianco, Catherine ; Lyonnet, Stanislas ; Dulac, Olivier ; Odent, Sylvie ; Rejeb, Imen ; Jemaa, Lamia Ben ; Rivier, Francois ; Pinson, Lucile ; Geneviève, David ; Musizzano, Yuri ; Bigi, Nicole ; Leboucq, Nicolas ; Giuliano, Fabienne ; Philip, Nicole ; Vilain, Catheline ; Van Bogaert, Patrick ; Maurey, Hélène ; Beldjord, Cherif ; Artiguenave, François ; Boland, Anne ; Olaso, Robert ; Masson, Cécile ; Nitschké, Patrick ; Deleuze, Jean-François ; Bahi-Buisson, Nadia ; Chelly, Jamel
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.611-614
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Showing 1 to 20 of 35 results

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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

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Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

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In vitro follicular growth affects oocyte imprinting establishment in mice

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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

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Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

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Loss of Function of KCNC1 is associated with intellectual disability without seizures

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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

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De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

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Experience and Appreciation of Health Care Teams Regarding a New Model of Pharmaceutical Care in Long-Term Care Settings

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations

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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

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