Rezultati - Labalme, Audrey

A novel telomeric (~285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease od Joly, Philippe, Lacan, Philippe, Labalme, Audrey, Bonhomme, Elodie, Sanlaville, Damien, Francina, Alain

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Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome od Leutenegger, Anne-Louise, Labalme, Audrey, Génin, Emmanuelle, Toutain, Annick, Steichen, Elisabeth, Clerget-Darpoux, Françoise, Edery, Patrick

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Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation od Ben Khelifa, Hela, Soyah, Najla, Labalme, Audrey, Guilbert, Helene, Sanlaville, Damien, Saad, Ali, Mougou-Zerelli, Soumaya

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HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype od Joly, Philippe, Schluth-Bolard, Caroline, Lacan, Philippe, Barro, Claire, Pissard, Serge, Labalme, Audrey, Sanlaville, Damien, Badens, Catherine

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Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report od Poisson, Alice, Chatron, Nicolas, Labalme, Audrey, Fourneret, Pierre, Ville, Dorothée, Mathieu, Marie Laure, Sanlaville, Damien, Demily, Caroline, Lesca, Gaëtan

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Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients od Abdallah-Bouhjar, Inesse B., Mougou-Zerelli, Soumaya, Hannachi, Hanene, Gmidène, Abir, Labalme, Audrey, Soyah, Najla, Sanlaville, Damien, Saad, Ali, Elghezal, Hatem

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Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy od Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan

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New disease gene location and high genetic heterogeneity in idiopathic scoliosis od Edery, Patrick, Margaritte-Jeannin, Patricia, Biot, Bernard, Labalme, Audrey, Bernard, Jean-Claude, Chastang, Joëlle, Kassai, Behrouz, Plais, Marie-Helene, Moldovan, Florina, Clerget-Darpoux, Francoise

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Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1 od Chatron, Nicolas, Thibault, Lucie, Lespinasse, James, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Edery, Patrick, Touraine, Renaud, des Portes, Vincent, Lesca, Gaetan, Sanlaville, Damien

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Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations od Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano

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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism od Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile

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Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes od Mosca, Ilaria, Rivolta, Ilaria, Labalme, Audrey, Ambrosino, Paolo, Castellotti, Barbara, Gellera, Cinzia, Granata, Tiziana, Freri, Elena, Binda, Anna, Lesca, Gaetan, DiFrancesco, Jacopo C., Soldovieri, Maria Virginia, Taglialatela, Maurizio

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Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing od Pons, Linda, Bouvagnet, Patrice, Bakloul, Mohamed, Di Filippo, Sylvie, Buisson, Adrien, Chatron, Nicolas, Labalme, Audrey, Metton, Olivier, Mitchell, Julia, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Schluth-Bolard, Caroline

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Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature od Alqahtani, Amerh Salem, Putoux, Audrey, Bonnet Dupeyron, Marie Noelle, Carneiro, Maryline, Lion‐Francois, Laurence, Rossi, Massimiliano, Tevissen, Hélène, Schluth Bolard, Caroline, Labalme, Audrey, Lesca, Gaetan, Till, Marianne, Edery, Patrick, Sanlaville, Damien

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Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11 od Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G. Mark, Szepetowski, Pierre

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Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy od Nappi, Mario, Barrese, Vincenzo, Carotenuto, Lidia, Lesca, Gaetan, Labalme, Audrey, Ville, Dorothee, Smol, Thomas, Rama, Mélanie, Dieux-Coeslier, Anne, Rivier-Ringenbach, Clotilde, Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Pusch, Michael, Miceli, Francesco, Taglialatela, Maurizio

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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder od Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano

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West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 od Alfaiz, Ali Abdullah, Müller, Verena, Boutry-Kryza, Nadia, Ville, Dorothée, Guex, Nicolas, de Bellescize, Julitta, Rivier, Clotilde, Labalme, Audrey, des Portes, Vincent, Edery, Patrick, Till, Marianne, Xenarios, Ioannis, Sanlaville, Damien, Herrmann, Johannes M, Lesca, Gaétan, Reymond, Alexandre

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Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA od Dimassi, Sarra, Simonet, Thomas, Labalme, Audrey, Boutry-Kryza, Nadia, Campan-Fournier, Amandine, Lamy, Raphaelle, Bardel, Claire, Elsensohn, Mad-Hélénie, Roucher-Boulez, Florence, Chatron, Nicolas, Putoux, Audrey, de Bellescize, Julitta, Ville, Dorothée, Schaeffer, Laurent, Roy, Pascal, Mougou-Zerelli, Soumaya, Saad, Ali, Calender, Alain, Sanlaville, Damien, Lesca, Gaetan

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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant od Chatron, Nicolas, Møller, Rikke S., Champaigne, Neena L., Schneider MGenCouns, Amy L., Kuechler, Alma, Labalme, Audrey, Simonet, Thomas, Baggett, Lauren, Bardel, Claire, Kamsteeg, Erik-Jan, Pfundt, Rolph, Romano, Corrado, Aronsson, Johan, Alberti, Antonino, Vinci, Mirella, Miranda, Maria J., Lacroix, Amy, Marjanovic, Dragan, des Portes, Vincent, Edery, Patrick, Wieczorek, Dagmar, Gardella, Elena, Scheffer, Ingrid E., Mefford, Heather, Sanlaville, Damien, Carvill, Gemma L., Lesca, Gaetan

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