CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
Nasser, Hala, Vera, Liza, Elmaleh-Bergès, Monique, Steindl, Katharina, Letard, Pascaline, Teissier, Natacha, Ernault, Anais, Guimiot, Fabien, Afenjar, Alexandra, Moutard, Marie Laure, Héron, Delphine, Alembik, Yves, Momtchilova, Martha, Milani, Paolo, Kubis, Nathalie, Pouvreau, Nathalie, Zollino, Marcella, Guilmin Crepon, Sophie, Kaguelidou, Florentia, Gressens, Pierre, Verloes, Alain, Rauch, Anita, El Ghouzzi, Vincent, Drunat, Severine, Passemard, Sandrine
Published in Journal of medical genetics (01.06.2020)
Published in Journal of medical genetics (01.06.2020)
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Autosomal recessive primary microcephaly due to ASPM mutations: An update
Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco‐Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu‐Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier‐Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh‐Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine
Published in Human mutation (01.03.2018)
Published in Human mutation (01.03.2018)
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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory
Passemard, Sandrine, Verloes, Alain, Billette de Villemeur, Thierry, Boespflug-Tanguy, Odile, Hernandez, Karen, Laurent, Marion, Isidor, Bertrand, Alberti, Corinne, Pouvreau, Nathalie, Drunat, Séverine, Gérard, Bénédicte, El Ghouzzi, Vincent, Gallego, Jorge, Elmaleh-Bergès, Monique, Huttner, Wieland B., Eliez, Stephan, Gressens, Pierre, Schaer, Marie
Published in Cortex (01.01.2016)
Published in Cortex (01.01.2016)
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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
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De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability
Tabet, Anne-Claude, Leroy, Camille, Dupont, Céline, Serrano, Emilie, Hernandez, Karen, Gallard, Jennifer, Pouvreau, Nathalie, Gadisseux, Jean-François, Benzacken, Brigitte, Verloes, Alain
Published in American journal of medical genetics. Part A (01.09.2014)
Published in American journal of medical genetics. Part A (01.09.2014)
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Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
Busiah, Kanetee, MD, Drunat, Séverine, PharmD, Vaivre-Douret, Laurence, Prof, Bonnefond, Amélie, PhD, Simon, Albane, MD, Flechtner, Isabelle, MD, Gérard, Bénédicte, PharmD, Pouvreau, Nathalie, MSc, Elie, Caroline, MD, Nimri, Revital, MD, Vries, Liat De, MD, Tubiana-Rufi, Nadia, MD, Metz, Chantal, MD, Bertrand, Anne-Marie, MD, Nivot-Adamiak, Sylvie, MD, de Kerdanet, Marc, MD, Stuckens, Chantal, MD, Jennane, Farida, MD, Souchon, Pierre-François, MD, Tallec, Claire Le, MD, Désirée, Christelle, MSc, Pereira, Sabrina, MSc, Dechaume, Aurélie, MSc, Robert, Jean-Jacques, Prof, Phillip, Moshe, Prof, Scharfmann, Raphaël, PhD, Czernichow, Paul, Prof, Froguel, Philippe, Prof, Vaxillaire, Martine, PharmD, Polak, Michel, Prof, Cavé, Hélène, Prof
Published in The lancet. Diabetes & endocrinology (01.11.2013)
Published in The lancet. Diabetes & endocrinology (01.11.2013)
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Autosomal recessive primary microcephaly due to ASPM mutations: An update
Published in Human mutation
(01.01.2019)
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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
Passemard, S, Titomanlio, L, Elmaleh, M, Afenjar, A, Alessandri, J-L, Andria, G, de Villemeur, T Billette, Boespflug-Tanguy, O, Burglen, L, Del Giudice, E, Guimiot, F, Hyon, C, Isidor, B, Mégarbané, A, Moog, U, Odent, S, Hernandez, K, Pouvreau, N, Scala, I, Schaer, M, Gressens, P, Gerard, B, Verloes, Alain
Published in Neurology (22.09.2009)
Published in Neurology (22.09.2009)
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Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
Kraoua, Lilia, Journel, Hubert, Bonnet, Philippe, Amiel, Jeanne, Pouvreau, Nathalie, Baumann, Clarisse, Verloes, Alain, Cavé, Hélène
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Prenatal findings in cardio-facio-cutaneous syndrome
Templin, Ludivine, Baumann, Clarisse, Busa, Tiffany, Heckenroth, Hélène, Pouvreau, Nathalie, Toutain, Annick, Cave, Hélène, Verloes, Alain, Sigaudy, Sabine, Philip, Nicole
Published in American journal of medical genetics. Part A (01.02.2016)
Published in American journal of medical genetics. Part A (01.02.2016)
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Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants
Busiah, Kanetee, Auger, Julie, Fauret-Amsellem, Anne-Laure, Dahan, Sonia, Pouvreau, Nathalie, Cavé, Hélène, Polak, Michel, Mitanchez, Delphine
Published in Hormone research in paediatrics (01.01.2015)
Published in Hormone research in paediatrics (01.01.2015)
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