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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
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Heide, Solveig, MD ; Keren, Boris, MD, PhD ; Billette de Villemeur, Thierry, MD, PhD ; Chantot-Bastaraud, Sandra, MD ; Depienne, Christel, PhD ; Nava, Caroline, MD, PhD ; Mignot, Cyril, MD, PhD ; Jacquette, Aurélia, MD ; Fonteneau, Eric ; Lejeune, Elodie ; Mach, Corinne ; Marey, Isabelle, MD ; Whalen, Sandra, MD ; Lacombe, Didier, MD, PhD ; Naudion, Sophie, MD ; Rooryck, Caroline, MD, PhD ; Toutain, Annick, MD, PhD ; Caignec, Cédric Le, MD, PhD ; Haye, Damien, MD ; Olivier-Faivre, Laurence, MD, PhD ; Masurel-Paulet, Alice, MD ; Thauvin-Robinet, Christel, MD, PhD ; Lesne, Fabien, CRA ; Faudet, Anne, CRA ; Ville, Dorothée, MD ; des Portes, Vincent, MD, PhD ; Sanlaville, Damien, MD, PhD ; Siffroi, Jean-Pierre, MD, PhD ; Moutard, Marie-Laure, MD ; Héron, Delphine, MD

The Journal of pediatrics, 2017-06, Vol.185, p.160-166.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

Marzin, Pauline ; Mignot, Cyril ; Dorison, Nathalie ; Dufour, Louis ; Ville, Dorothée ; Kaminska, Anna ; Panagiotakaki, Eleni ; Dienpendaele, Anne-Sophie ; Penniello, Marie-José ; Nougues, Marie-Christine ; Keren, Boris ; Depienne, Christel ; Nava, Caroline ; Milh, Mathieu ; Villard, Laurent ; Richelme, Christian ; Rivier, Clotilde ; Whalen, Sandra ; Heron, Delphine ; Lesca, Gaëtan ; Doummar, Diane

Brain & development (Tokyo. 1979), 2018-10, Vol.40 (9), p.768-774 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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4
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients
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A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients

Cartault, François ; Nava, Caroline ; Malbrunot, Anne-Claire ; Munier, Patrick ; Hebert, Jean-Christophe ; N’guyen, Patrick ; Djeridi, Nadia ; Pariaud, Philippe ; Pariaud, Joelle ; Dupuy, Aurélie ; Austerlitz, Frédéric ; Sarasin, Alain

DNA Repair (Amst), 2011-06, Vol.10 (6), p.577-585 [Periódico revisado por pares]

Amsterdam: Elsevier B.V

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5
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Myers, Candace T. ; Cossette, Patrick ; Lemay, Philippe ; Spiegelman, Dan ; Laporte, Alexandre Dionne ; Nassif, Christina ; Diallo, Ousmane ; Monlong, Jean ; Cadieux-Dion, Maxime ; Dobrzeniecka, Sylvia ; Meloche, Caroline ; Retterer, Kyle ; Cho, Megan T. ; Rosenfeld, Jill A. ; Bi, Weimin ; Massicotte, Christine ; Miguet, Marguerite ; Brunga, Ledia ; Regan, Brigid M. ; Mo, Kelly ; Tam, Cory ; Hollingsworth, Georgie ; FitzPatrick, David R. ; Canham, Natalie ; Blair, Edward ; Kerr, Bronwyn ; Fry, Andrew E. ; Thomas, Rhys H. ; Shelagh, Joss ; Hurst, Jane A. ; Brittain, Helen ; Blyth, Moira ; Lebel, Robert Roger ; Gerkes, Erica H. ; Davis-Keppen, Laura ; Stein, Quinn ; Dorison, Sara J. ; Benke, Paul J. ; Fassi, Emily ; Corsten-Janssen, Nicole ; Kamsteeg, Erik-Jan ; Mau-Them, Frederic T. ; Bruel, Ange-Line ; Verloes, Alain ; Õunap, Katrin ; Wojcik, Monica H. ; Albert, Dara V.F. ; Venkateswaran, Sunita ; Ware, Tyson ; Liu, Yu-Chi ; Mohammad, Shekeeb S. ; Bizargity, Peyman ; Bacino, Carlos A. ; Leuzzi, Vincenzo ; Martinelli, Simone ; Dallapiccola, Bruno ; Tartaglia, Marco ; Blumkin, Lubov ; Wierenga, Klaas J. ; Purcarin, Gabriela ; O’Byrne, James J. ; Stockler, Sylvia ; Lehman, Anna ; Keren, Boris ; Nougues, Marie-Christine ; Mignot, Cyril ; Auvin, Stéphane ; Nava, Caroline ; Hiatt, Susan M. ; Bebin, Martina ; Shao, Yunru ; Scaglia, Fernando ; Frye, Richard E. ; Jarjour, Imad T. ; Jacques, Stéphanie ; Boucher, Renee-Myriam ; Riou, Emilie ; Srour, Myriam ; Carmant, Lionel ; Lortie, Anne ; Major, Philippe ; Diadori, Paola ; Dubeau, François ; D’Anjou, Guy ; Bourque, Guillaume ; Berkovic, Samuel F. ; Sadleir, Lynette G. ; Campeau, Philippe M. ; Kibar, Zoha ; Lafrenière, Ronald G. ; Girard, Simon L. ; Mercimek-Mahmutoglu, Saadet ; Boelman, Cyrus ; Rouleau, Guy A. ; Scheffer, Ingrid E. ; Mefford, Heather C. ; Andrade, Danielle M. ; Rossignol, Elsa ; Minassian, Berge A. ; Michaud, Jacques L.

American journal of human genetics, 2017-11, Vol.101 (5), p.664-685 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, Markus ; Johannesen, Katrine M ; Hedrich, Ulrike B S ; Masnada, Silvia ; Rubboli, Guido ; Gardella, Elena ; Lesca, Gaetan ; Ville, Dorothée ; Milh, Mathieu ; Villard, Laurent ; Afenjar, Alexandra ; Chantot-Bastaraud, Sandra ; Mignot, Cyril ; Lardennois, Caroline ; Nava, Caroline ; Schwarz, Niklas ; Gérard, Marion ; Perrin, Laurence ; Doummar, Diane ; Auvin, Stéphane ; Miranda, Maria J ; Hempel, Maja ; Brilstra, Eva ; Knoers, Nine ; Verbeek, Nienke ; van Kempen, Marjan ; Braun, Kees P ; Mancini, Grazia ; Biskup, Saskia ; Hörtnagel, Konstanze ; Döcker, Miriam ; Bast, Thomas ; Loddenkemper, Tobias ; Wong-Kisiel, Lily ; Baumeister, Friedrich M ; Fazeli, Walid ; Striano, Pasquale ; Dilena, Robertino ; Fontana, Elena ; Zara, Federico ; Kurlemann, Gerhard ; Klepper, Joerg ; Thoene, Jess G ; Arndt, Daniel H ; Deconinck, Nicolas ; Schmitt-Mechelke, Thomas ; Maier, Oliver ; Muhle, Hiltrud ; Wical, Beverly ; Finetti, Claudio ; Brückner, Reinhard ; Pietz, Joachim ; Golla, Günther ; Jillella, Dinesh ; Linnet, Karen M ; Charles, Perrine ; Moog, Ute ; Õiglane-Shlik, Eve ; Mantovani, John F ; Park, Kristen ; Deprez, Marie ; Lederer, Damien ; Mary, Sandrine ; Scalais, Emmanuel ; Selim, Laila ; Van Coster, Rudy ; Lagae, Lieven ; Nikanorova, Marina ; Hjalgrim, Helle ; Korenke, G Christoph ; Trivisano, Marina ; Specchio, Nicola ; Ceulemans, Berten ; Dorn, Thomas ; Helbig, Katherine L ; Hardies, Katia ; Stamberger, Hannah ; de Jonghe, Peter ; Weckhuysen, Sarah ; Lemke, Johannes R ; Krägeloh-Mann, Ingeborg ; Helbig, Ingo ; Kluger, Gerhard ; Lerche, Holger ; Møller, Rikke S

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1316-1336 [Periódico revisado por pares]

England: Oxford University Press

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7
GRIN2A-related disorders: genotype and functional consequence predict phenotype
GRIN2A-related disorders: genotype and functional consequence predict phenotype
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GRIN2A-related disorders: genotype and functional consequence predict phenotype

Strehlow, Vincent ; Heyne, Henrike O ; Vlaskamp, Danique R M ; Marwick, Katie F M ; Rudolf, Gabrielle ; de Bellescize, Julitta ; Biskup, Saskia ; Brilstra, Eva H ; Brouwer, Oebele F ; Callenbach, Petra M C ; Hentschel, Julia ; Hirsch, Edouard ; Kind, Peter C ; Mignot, Cyril ; Platzer, Konrad ; Rump, Patrick ; Skehel, Paul A ; Wyllie, David J A ; Hardingham, Giles E ; van Ravenswaaij-Arts, Conny M A ; Lesca, Gaetan ; Lemke, Johannes R

Brain (London, England : 1878), 2019-01, Vol.142 (1), p.80-92 [Periódico revisado por pares]

England: Oxford University Press

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8
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation
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Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation

Atsem, Stefanie ; Reichenbach, Juliane ; Potabattula, Ramya ; Dittrich, Marcus ; Nava, Caroline ; Depienne, Christel ; Böhm, Lena ; Rost, Simone ; Hahn, Thomas ; Schorsch, Martin ; Haaf, Thomas ; El Hajj, Nady

Human molecular genetics, 2016-11, Vol.25 (22), p.4996-5005 [Periódico revisado por pares]

England: Oxford University Press (OUP)

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9
The landscape of epilepsy-related GATOR1 variants
The landscape of epilepsy-related GATOR1 variants
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The landscape of epilepsy-related GATOR1 variants

Baldassari, Sara ; Picard, Fabienne ; Verbeek, Nienke E ; van Kempen, Marjan ; Brilstra, Eva H ; Lesca, Gaetan ; Conti, Valerio ; Guerrini, Renzo ; Bisulli, Francesca ; Licchetta, Laura ; Pippucci, Tommaso ; Tinuper, Paolo ; Hirsch, Edouard ; de Saint Martin, Anne ; Chelly, Jamel ; Rudolf, Gabrielle ; Chipaux, Mathilde ; Ferrand-Sorbets, Sarah ; Dorfmüller, Georg ; Sisodiya, Sanjay ; Balestrini, Simona ; Schoeler, Natasha ; Hernandez-Hernandez, Laura ; Krithika, S ; Oegema, Renske ; Hagebeuk, Eveline ; Gunning, Boudewijn ; Deckers, Charles ; Berghuis, Bianca ; Wegner, Ilse ; Niks, Erik ; Jansen, Floor E ; Braun, Kees ; de Jong, Daniëlle ; Rubboli, Guido ; Talvik, Inga ; Sander, Valentin ; Uldall, Peter ; Jacquemont, Marie-Line ; Nava, Caroline ; Leguern, Eric ; Julia, Sophie ; Gambardella, Antonio ; d'Orsi, Giuseppe ; Crichiutti, Giovanni ; Faivre, Laurence ; Darmency, Veronique ; Benova, Barbora ; Krsek, Pavel ; Biraben, Arnaud ; Lebre, Anne-Sophie ; Jennesson, Mélanie ; Sattar, Shifteh ; Marchal, Cécile ; Nordli, Jr, Douglas R ; Lindstrom, Kristin ; Striano, Pasquale ; Lomax, Lysa Boissé ; Kiss, Courtney ; Bartolomei, Fabrice ; Lepine, Anne Fabienne ; Schoonjans, An-Sofie ; Stouffs, Katrien ; Jansen, Anna ; Panagiotakaki, Eleni ; Ricard-Mousnier, Brigitte ; Thevenon, Julien ; de Bellescize, Julitta ; Catenoix, Hélène ; Dorn, Thomas ; Zenker, Martin ; Müller-Schlüter, Karen ; Brandt, Christian ; Krey, Ilona ; Polster, Tilman ; Wolff, Markus ; Balci, Meral ; Rostasy, Kevin ; Achaz, Guillaume ; Zacher, Pia ; Becher, Thomas ; Cloppenborg, Thomas ; Yuskaitis, Christopher J ; Weckhuysen, Sarah ; Poduri, Annapurna ; Lemke, Johannes R ; Møller, Rikke S ; Baulac, Stéphanie

Genetics in medicine, 2019-02, Vol.21 (2), p.398-408 [Periódico revisado por pares]

United States: Elsevier Limited

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10
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Corbett, Mark A ; Kroes, Thessa ; Veneziano, Liana ; Bennett, Mark F ; Florian, Rahel ; Schneider, Amy L ; Coppola, Antonietta ; Licchetta, Laura ; Franceschetti, Silvana ; Suppa, Antonio ; Wenger, Aaron ; Mei, Davide ; Pendziwiat, Manuela ; Kaya, Sabine ; Delledonne, Massimo ; Straussberg, Rachel ; Xumerle, Luciano ; Regan, Brigid ; Crompton, Douglas ; van Rootselaar, Anne-Fleur ; Correll, Anthony ; Catford, Rachael ; Bisulli, Francesca ; Chakraborty, Shreyasee ; Baldassari, Sara ; Tinuper, Paolo ; Barton, Kirston ; Carswell, Shaun ; Smith, Martin ; Berardelli, Alfredo ; Carroll, Renee ; Gardner, Alison ; Friend, Kathryn L ; Blatt, Ilan ; Iacomino, Michele ; Di Bonaventura, Carlo ; Striano, Salvatore ; Buratti, Julien ; Keren, Boris ; Nava, Caroline ; Forlani, Sylvie ; Rudolf, Gabrielle ; Hirsch, Edouard ; Leguern, Eric ; Labauge, Pierre ; Balestrini, Simona ; Sander, Josemir W ; Afawi, Zaid ; Helbig, Ingo ; Ishiura, Hiroyuki ; Tsuji, Shoji ; Sisodiya, Sanjay M ; Casari, Giorgio ; Sadleir, Lynette G ; van Coller, Riaan ; Tijssen, Marina A J ; Klein, Karl Martin ; van den Maagdenberg, Arn M J M ; Zara, Federico ; Guerrini, Renzo ; Berkovic, Samuel F ; Pippucci, Tommaso ; Canafoglia, Laura ; Bahlo, Melanie ; Striano, Pasquale ; Scheffer, Ingrid E ; Brancati, Francesco ; Depienne, Christel ; Gecz, Jozef

Nature communications, 2019-10, Vol.10 (1), p.4920-10, Article 4920 [Periódico revisado por pares]

England: Nature Publishing Group

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