16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Allach El Khattabi, Laïla, Heide, Solveig, Caberg, Jean-Hubert, Andrieux, Joris, Doco Fenzy, Martine, Vincent-Delorme, Caroline, Callier, Patrick, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Boute-Benejean, Odile, Cordier, Marie Pierre, Faivre, Laurence, Francannet, Christine, Gerard, Marion, Goldenberg, Alice, Masurel-Paulet, Alice, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Moncla, Anne, Le Meur, Nathalie, Mathieu-Dramard, Michèle, Plessis, Ghislaine, Lesca, Gaetan, Rossi, Massimiliano, Edery, Patrick, Delahaye-Duriez, Andrée, De Pontual, Loïc, Tabet, Anne Claude, Lebbar, Aziza, Suiro, Lesley, Ioos, Christine, Natiq, Abdelhafid, Chafai Elalaoui, Siham, Missirian, Chantal, Receveur, Aline, François-Fiquet, Caroline, Garnier, Pascal, Yardin, Catherine, Laroche, Cécile, Vago, Philippe, Sanlaville, Damien, Dupont, Jean Michel, Benzacken, Brigitte, Pipiras, Eva
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
Get full text
Journal Article
Web Resource
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
Vitobello, Antonio, Mazel, Benoit, Lelianova, Vera G., Zangrandi, Alice, Petitto, Evelina, Suckling, Jason, Salpietro, Vincenzo, Meyer, Robert, Elbracht, Miriam, Kurth, Ingo, Eggermann, Thomas, Benlaouer, Ouafa, Lall, Gurprit, Tonevitsky, Alexander G., Scott, Daryl A., Chan, Katie M., Rosenfeld, Jill A., Nambot, Sophie, Safraou, Hana, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Guo, Hui, Petersen, Andrea K., Granger, Leslie, Crunk, Amy, Bayat, Allan, Striano, Pasquale, Zara, Federico, Scala, Marcello, Thomas, Quentin, Delahaye, Andrée, de Sainte Agathe, Jean-Madeleine, Buratti, Julien, Kozlov, Serguei V., Faivre, Laurence, Thauvin-Robinet, Christel, Ushkaryov, Yuri
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
Get full text
Journal Article
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Mignot, Cyril, Lambert, Laetitia, Pasquier, Laurent, Bienvenu, Thierry, Delahaye-Duriez, Andrée, Keren, Boris, Lefranc, Jérémie, Saunier, Aline, Allou, Lila, Roth, Virginie, Valduga, Mylène, Moustaïne, Aissa, Auvin, Stéphane, Barrey, Catherine, Chantot-Bastaraud, Sandra, Lebrun, Nicolas, Moutard, Marie-Laure, Nougues, Marie-Christine, Vermersch, Anne-Isabelle, Héron, Bénédicte, Pipiras, Eva, Héron, Delphine, Olivier-Faivre, Laurence, Guéant, Jean-Louis, Jonveaux, Philippe, Philippe, Christophe
Published in Journal of medical genetics (01.01.2015)
Published in Journal of medical genetics (01.01.2015)
Get full text
Journal Article
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
Novara, Francesca, Rinaldi, Berardo, Sisodiya, Sanjay M, Coppola, Antonietta, Giglio, Sabrina, Stanzial, Franco, Benedicenti, Francesco, Donaldson, Alan, Andrieux, Joris, Stapleton, Rachel, Weber, Astrid, Reho, Paolo, van Ravenswaaij-Arts, Conny, Kerstjens-Frederikse, Wilhelmina S, Vermeesch, Joris Robert, Devriendt, Koenraad, Bacino, Carlos A, Delahaye, Andrée, Maas, S M, Iolascon, Achille, Zuffardi, Orsetta
Published in European journal of human genetics : EJHG (01.06.2017)
Published in European journal of human genetics : EJHG (01.06.2017)
Get full text
Journal Article
Impact of Fetal Growth Restriction on the Neonatal Microglial Proteome in the Rat
Zinni, Manuela, Pansiot, Julien, Colella, Marina, Faivre, Valérie, Delahaye-Duriez, Andrée, Guillonneau, François, Bruce, Johanna, Salnot, Virginie, Mairesse, Jérôme, Knoop, Marit, Possovre, Marie-Laure, Vaiman, Daniel, Baud, Olivier
Published in Nutrients (22.10.2021)
Published in Nutrients (22.10.2021)
Get full text
Journal Article
Mutations in the C-terminus of CDKL5: proceed with caution
Diebold, Bertrand, Delépine, Chloé, Gataullina, Svetlana, Delahaye, Andrée, Nectoux, Juliette, Bienvenu, Thierry
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
Get full text
Journal Article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
Get full text
Journal Article
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B
Saugier-Veber, Pascale, Marguet, Florent, Vezain, Myriam, Bucourt, Martine, Letard, Pascaline, Delahaye, Andrée, Pipiras, Eva, Frébourg, Thierry, Gonzalez, Bruno, Laquerrière, Annie
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
Get full text
Journal Article
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia I., Rosenbaum, Kenneth, Vallee, Stephanie E., Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Descartes, Maria, Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.
Published in Human mutation (01.04.2012)
Published in Human mutation (01.04.2012)
Get full text
Journal Article
Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships
Bahi-Buisson, Nadia, Villeneuve, Nathalie, Caietta, Emilie, Jacquette, Aurélia, Maurey, Helene, Matthijs, Gert, Van Esch, Hilde, Delahaye, Andrée, Moncla, Anne, Milh, Mathieu, Zufferey, Flore, Diebold, Bertrand, Bienvenu, Thierry
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
Get full text
Journal Article
HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4
AUVRAY, Céline, DELAHAYE, Andrée, VIGON, Isabelle, PFLUMIO, Frangoise, HADDAD, Rima, AMSELLEM, Sophie, MIRI-NEZHAD, Ayda, BROIX, Loïc, YACIA, Azzedine, BULLE, Frédérique, FICHELSON, Serge
Published in Haematologica (Roma) (01.02.2012)
Published in Haematologica (Roma) (01.02.2012)
Get full text
Journal Article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene
Delahaye, Andrée, Khung-Savatovsky, Suonavy, Aboura, Azzedine, Guimiot, Fabien, Drunat, Séverine, Alessandri, Jean-Luc, Gérard, Marion, Bitoun, Pierre, Boumendil, Julien, Robin, Stéphanie, Huel, Chan, Guilherme, Romain, Serero, Stéphane, Gressens, Pierre, Elion, Jacques, Verloes, Alain, Benzacken, Brigitte, Delezoide, Anne-Lise, Pipiras, Eva
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
Get full text
Journal Article
Chromosomal microarray analysis in ocular developmental anomalies
Delahaye, Andrée, Pipiras, Eva, Benzacken, Brigitte
Published in Expert review of molecular diagnostics (01.06.2012)
Published in Expert review of molecular diagnostics (01.06.2012)
Get full text
Journal Article
Machine learning applications in drug development
Réda, Clémence, Kaufmann, Emilie, Delahaye-Duriez, Andrée
Published in Computational and structural biotechnology journal (01.01.2020)
Published in Computational and structural biotechnology journal (01.01.2020)
Get full text
Journal Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina
Published in Molecular autism (25.03.2015)
Published in Molecular autism (25.03.2015)
Get full text
Journal Article
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1 : Four additional patients
Schiff, Manuel, Delahaye, Andrée, Andrieux, Joris, Sanlaville, Damien, Vincent-Delorme, Catherine, Aboura, Azzedine, Benzacken, Brigitte, Bouquillon, Sonia, Elmaleh-Berges, Monique, Labalme, Audrey, Passemard, Sandrine, Perrin, Laurence, Manouvrier-Hanu, Sylvie, Edery, Patrick, Verloes, Alain, Drunat, Séverine
Published in European journal of medical genetics (01.09.2010)
Published in European journal of medical genetics (01.09.2010)
Get full text
Journal Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
DELAHAYE, Andrée, BITOUN, Pierre, PASSEMARD, Sandrine, ABOURA, Azzedine, KALTENBACH, Sophie, QUENTIN, Samuel, DUPONT, Céline, TABET, Anne-Claude, AMSELEM, Serge, ELION, Jacques, GRESSENS, Pierre, PIPIRAS, Eva, DRUNAT, Séverine, BENZACKEN, Brigitte, GERARD-BLANLUET, Marion, CHASSAING, Nicolas, TOUTAIN, Annick, VERLOES, Alain, GATELAIS, Frédérique, LEGENDRE, Marie, FAIVRE, Laurence
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
Get full text
Journal Article
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
Jaillard, Sylvie, Drunat, Séverine, Bendavid, Claude, Aboura, Azzedine, Etcheverry, Amandine, Journel, Hubert, Delahaye, Andrée, Pasquier, Laurent, Bonneau, Dominique, Toutain, Annick, Burglen, Lydie, Guichet, Agnès, Pipiras, Eva, Gilbert-Dussardier, Brigitte, Benzacken, Brigitte, Martin-Coignard, Dominique, Henry, Catherine, David, Albert, Lucas, Josette, Mosser, Jean, David, Véronique, Odent, Sylvie, Verloes, Alain, Dubourg, Christèle
Published in European journal of medical genetics (01.03.2010)
Published in European journal of medical genetics (01.03.2010)
Get full text
Journal Article
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis
Tabet, Anne‐Claude, Aboura, Azzedine, Gérard, Marion, Pilorge, Marion, Dupont, Céline, Gadisseux, Jean‐François, Hervy, Nadège, Pipiras, Eva, Delahaye, Andrée, Kanafani, Samia, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
Get full text
Journal Article