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1
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, Caroline ; Dalle, Carine ; Rastetter, Agnès ; Striano, Pasquale ; de Kovel, Carolien G F ; Nabbout, Rima ; Cancès, Claude ; Ville, Dorothée ; Brilstra, Eva H ; Gobbi, Giuseppe ; Raffo, Emmanuel ; Bouteiller, Delphine ; Marie, Yannick ; Trouillard, Oriane ; Robbiano, Angela ; Keren, Boris ; Agher, Dahbia ; Roze, Emmanuel ; Lesage, Suzanne ; Nicolas, Aude ; Brice, Alexis ; Baulac, Michel ; Vogt, Cornelia ; El Hajj, Nady ; Schneider, Eberhard ; Suls, Arvid ; Weckhuysen, Sarah ; Gormley, Padhraig ; Lehesjoki, Anna-Elina ; De Jonghe, Peter ; Helbig, Ingo ; Baulac, Stéphanie ; Zara, Federico ; Koeleman, Bobby P C ; Haaf, Thomas ; LeGuern, Eric ; Depienne, Christel

Nature genetics, 2014-06, Vol.46 (6), p.640-645 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Hiatt, Susan M ; Neu, Matthew B ; Ramaker, Ryne C ; Hardigan, Andrew A ; Prokop, Jeremy W ; Hancarova, Miroslava ; Prchalova, Darina ; Havlovicova, Marketa ; Prchal, Jan ; Stranecky, Viktor ; Yim, Dwight K C ; Powis, Zöe ; Keren, Boris ; Nava, Caroline ; Mignot, Cyril ; Rio, Marlene ; Revah-Politi, Anya ; Hemati, Parisa ; Stong, Nicholas ; Iglesias, Alejandro D ; Suchy, Sharon F ; Willaert, Rebecca ; Wentzensen, Ingrid M ; Wheeler, Patricia G ; Brick, Lauren ; Kozenko, Mariya ; Hurst, Anna C E ; Wheless, James W ; Lacassie, Yves ; Myers, Richard M ; Barsh, Gregory S ; Sedlacek, Zdenek ; Cooper, Gregory M Copenhaver, Gregory P.

PLoS genetics, 2018-11, Vol.14 (11), p.e1007671-e1007671 [Periódico revisado por pares]

United States: Public Library of Science

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3
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B ; Wheeler, Patricia G ; Haynes, Devon ; Juusola, Jane ; Billette de Villemeur, Thierry ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, Matias Bellen, Hugo J.

PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386 [Periódico revisado por pares]

United States: Public Library of Science

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4
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B ; Wheeler, Patricia G ; Haynes, Devon ; Juusola, Jane ; de Villemeur, Thierry Billette ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, Matias

PLoS genetics, 2018-10, Vol.14 (10), p.e1007748-e1007748 [Periódico revisado por pares]

United States: Public Library of Science

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5
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

Huguet, Guillaume ; Nava, Caroline ; Lemière, Nathalie ; Patin, Etienne ; Laval, Guillaume ; Ey, Elodie ; Brice, Alexis ; Leboyer, Marion ; Szepetowski, Pierre ; Gillberg, Christopher ; Depienne, Christel ; Delorme, Richard ; Bourgeron, Thomas Toft, Mathias

PloS one, 2014-03, Vol.9 (3), p.e88600-e88600 [Periódico revisado por pares]

United States: Public Library of Science

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6
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Leblond, Claire S ; Nava, Caroline ; Polge, Anne ; Gauthier, Julie ; Huguet, Guillaume ; Lumbroso, Serge ; Giuliano, Fabienne ; Stordeur, Coline ; Depienne, Christel ; Mouzat, Kevin ; Pinto, Dalila ; Howe, Jennifer ; Lemière, Nathalie ; Durand, Christelle M ; Guibert, Jessica ; Ey, Elodie ; Toro, Roberto ; Peyre, Hugo ; Mathieu, Alexandre ; Amsellem, Frédérique ; Rastam, Maria ; Gillberg, I Carina ; Rappold, Gudrun A ; Holt, Richard ; Monaco, Anthony P ; Maestrini, Elena ; Galan, Pilar ; Heron, Delphine ; Jacquette, Aurélia ; Afenjar, Alexandra ; Rastetter, Agnès ; Brice, Alexis ; Devillard, Françoise ; Assouline, Brigitte ; Laffargue, Fanny ; Lespinasse, James ; Chiesa, Jean ; Rivier, François ; Bonneau, Dominique ; Regnault, Beatrice ; Zelenika, Diana ; Delepine, Marc ; Lathrop, Mark ; Sanlaville, Damien ; Schluth-Bolard, Caroline ; Edery, Patrick ; Perrin, Laurence ; Tabet, Anne Claude ; Schmeisser, Michael J ; Boeckers, Tobias M ; Coleman, Mary ; Sato, Daisuke ; Szatmari, Peter ; Scherer, Stephen W ; Rouleau, Guy A ; Betancur, Catalina ; Leboyer, Marion ; Gillberg, Christopher ; Delorme, Richard ; Bourgeron, Thomas Barsh, Gregory S.

PLoS genetics, 2014-09, Vol.10 (9), p.e1004580-e1004580 [Periódico revisado por pares]

United States: Public Library of Science

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7
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, Ashley P L ; Heron, Delphine ; Edwards, Timothy J ; Quartier, Angélique ; Galea, Charles ; Nava, Caroline ; Rastetter, Agnès ; Moutard, Marie-Laure ; Anderson, Vicki ; Bitoun, Pierre ; Bunt, Jens ; Faudet, Anne ; Garel, Catherine ; Gillies, Greta ; Gobius, Ilan ; Guegan, Justine ; Heide, Solveig ; Keren, Boris ; Lesne, Fabien ; Lukic, Vesna ; Mandelstam, Simone A ; McGillivray, George ; McIlroy, Alissandra ; Méneret, Aurélie ; Mignot, Cyril ; Morcom, Laura R ; Odent, Sylvie ; Paolino, Annalisa ; Pope, Kate ; Riant, Florence ; Robinson, Gail A ; Spencer-Smith, Megan ; Srour, Myriam ; Stephenson, Sarah E M ; Tankard, Rick ; Trouillard, Oriane ; Welniarz, Quentin ; Wood, Amanda ; Brice, Alexis ; Rouleau, Guy ; Attié-Bitach, Tania ; Delatycki, Martin B ; Mandel, Jean-Louis ; Amor, David J ; Roze, Emmanuel ; Piton, Amélie ; Bahlo, Melanie ; Billette de Villemeur, Thierry ; Sherr, Elliott H ; Leventer, Richard J ; Richards, Linda J ; Lockhart, Paul J ; Depienne, Christel

Nature genetics, 2017-04, Vol.49 (4), p.511-514 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Balasubramanian, Meena ; Dingemans, Alexander J M ; Albaba, Shadi ; Richardson, Ruth ; Yates, Thabo M ; Cox, Helen ; Douzgou, Sofia ; Armstrong, Ruth ; Sansbury, Francis H ; Burke, Katherine B ; Fry, Andrew E ; Ragge, Nicola ; Sharif, Saba ; Foster, Alison ; De Sandre-Giovannoli, Annachiara ; Elouej, Sahar ; Vasudevan, Pradeep ; Mansour, Sahar ; Wilson, Kate ; Stewart, Helen ; Heide, Solveig ; Nava, Caroline ; Keren, Boris ; Demirdas, Serwet ; Brooks, Alice S ; Vincent, Marie ; Isidor, Bertrand ; Küry, Sebastien ; Schouten, Meyke ; Leenders, Erika ; Chung, Wendy K ; Haeringen, Arie van ; Scheffner, Thomas ; Debray, Francois-Guillaume ; White, Susan M ; Palafoll, Maria Irene Valenzuela ; Pfundt, Rolph ; Newbury-Ecob, Ruth ; Kleefstra, Tjitske

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Doummar, Diane ; Dentel, Christel ; Lyautey, Romane ; Metreau, Julia ; Keren, Boris ; Drouot, Nathalie ; Malherbe, Ludivine ; Bouilleret, Viviane ; Courraud, Jérémie ; Valenti-Hirsch, Maria Paola ; Minotti, Lorella ; Dozieres-Puyravel, Blandine ; Bär, Séverine ; Scholly, Julia ; Schaefer, Elise ; Nava, Caroline ; Wirth, Thomas ; Nasser, Hala ; de Salins, Marie ; de Saint Martin, Anne ; Warde, Marie Thérèse Abi ; Kahane, Philippe ; Hirsch, Edouard ; Anheim, Mathieu ; Friant, Sylvie ; Chelly, Jamel ; Mignot, Cyril ; Rudolf, Gabrielle

European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1403-1413 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Nava, Caroline ; Keren, Boris ; Mignot, Cyril ; Rastetter, Agnès ; Chantot-Bastaraud, Sandra ; Faudet, Anne ; Fonteneau, Eric ; Amiet, Claire ; Laurent, Claudine ; Jacquette, Aurélia ; Whalen, Sandra ; Afenjar, Alexandra ; Périsse, Didier ; Doummar, Diane ; Dorison, Nathalie ; Leboyer, Marion ; Siffroi, Jean-Pierre ; Cohen, David ; Brice, Alexis ; Héron, Delphine ; Depienne, Christel

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.71-78 [Periódico revisado por pares]

England: Nature Publishing Group

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