Search Results - "Aboura, Azzedine"

Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases by Al Ageeli, Essam, Drunat, Séverine, Delanoë, Catherine, Perrin, Laurence, Baumann, Clarisse, Capri, Yline, Fabre-Teste, Jennifer, Aboura, Azzedine, Dupont, Céline, Auvin, Stéphane, El Khattabi, Laila, Chantereau, Dominique, Moncla, Anne, Tabet, Anne-Claude, Verloes, Alain

“…Abstract Background 15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified…”
Get full text

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes by Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David

“…Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and…”
Get full text

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion by Chatron, Nicolas, Haddad, Véronique, Andrieux, Joris, Désir, Julie, Boute, Odile, Dieux, Anne, Baumann, Clarisse, Drunat, Séverine, Gérard, Marion, Bonnet, Céline, Leheup, Bruno, Till, Marianne, Rossi, Massimiliano, Flori, Elisabeth, Alembik, Yves, Stewart, Helen, McParland, Joanna, Bernardini, Laura, Castelluccio, Pia, Roos, Laura, Tümer, Zeynep, Fagan, Kerry, Hackett, Anna, Bain, Nicole, van Haeringen, Arie, Ruivenkamp, Claudia, Benzacken, Brigitte, Sanlaville, Damien, Edery, Patrick, Aboura, Azzedine, Schluth-Bolard, Caroline

“…Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism…”
Get full text

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene by 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

“…FOXC1 deletion, duplication, and mutations are associated with Axenfeld–Rieger anomaly, and Dandy–Walker malformation spectrum. We describe the clinical…”
Get full text

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1 : Four additional patients by 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

“…Abstract Background The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial…”
Get full text

Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome by Guimiot, Fabien, Marcorelles, Pascale, Aboura, Azzedine, Bonyhay, Georges, Patrier, Sophie, Menez, Françoise, Drouin-Garraud, Valérie, Icowick, Valentine, Eurin, Danièle, Garel, Catherine, Moirot, Hélène, Verspyck, Eric, Saugier-Veber, Pascale, Attie-Bitach, Tania, Picone, Olivier, Oury, Jean François, Verloes, Alain, Delezoide, Anne Lise, Laquerrière, Pr. Annie

“…An hypothalamic hamartoma is an abnormal mass of mature glio‐neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of…”
Get full text

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome by PETIT, Francois M, GAJDOS, Vincent, PARISOT, Frédéric, CAPEL, Liliane, ABOURA, Azzedine, LACHAUX, Alain, TACHDJIAN, Gérard, POÜS, Christian, LABRUNE, Philippe

“…Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate…”
Get full text

Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure by Aboura, Azzedine, Dupas, Claire, Tachdjian, Gérard, Portnoï, Marie-France, Bourcigaux, Nathalie, Dewailly, Didier, Frydman, René, Fauser, Bart, Ronci-Chaix, Nathalie, Donadille, Bruno, Bouchard, Philippe, Christin-Maitre, Sophie

“…Introduction: Premature ovarian failure (POF) is defined by amenorrhea of at least 4- to 6-month duration, occurring before 40 yr of age, with two FSH levels…”
Get full text

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations by Dupont, Céline, Grati, Francesca Romana, Choy, Kwong Wai, Jaillard, Sylvie, Toutain, Jérôme, Maurin, Marie-Laure, Martínez-Conejero, Jose Antonio, Beneteau, Claire, Coussement, Aurélie, Molina-Gomes, Denise, Horelli-Kuitunen, Nina, Aboura, Azzedine, Tabet, Anne-Claude, Besseau-Ayasse, Justine, Bessieres-Grattagliano, Bettina, Simoni, Giuseppe, Ayala, Gustavo, Benzacken, Brigitte, Vialard, François

“…What's already known about this topic?Fluorescence in situ hybridization analysis of the 22q11.2 region in a large cohort of children referred for DiGeorge…”
Get full text

Parental Origin of the X-Chromosome Does Not Influence Growth Hormone Treatment Effect in Turner Syndrome by Devernay, Marie, Bolca, Diana, Kerdjana, Lamia, Aboura, Azzedine, Gérard, Bénédicte, Tabet, Anne-Claude, Benzacken, Brigitte, Ecosse, Emmanuel, Coste, Joël, Carel, Jean-Claude

“…Context: The parental origin of the intact X-chromosome has been reported to affect phenotype and response to GH treatment in Turner syndrome (TS). Objective:…”
Get full text

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review by El Khattabi, Laïla, Jaillard, Sylvie, Andrieux, Joris, Pasquier, Laurent, Perrin, Laurence, Capri, Yline, Benmansour, Abdelmadjid, Toutain, Annick, Marcorelles, Pascale, Vincent-Delorme, Catherine, Journel, Hubert, Henry, Catherine, De Barace, Claire, Devisme, Louise, Dubourg, Christèle, Demurger, Florence, Lucas, Josette, Belaud-Rotureau, Marc-Antoine, Amiel, Jeanne, Malan, Valérie, De Blois, Marie-Christine, De Pontual, Loïc, Lebbar, Aziza, Le DÛ, Nathalie, Germain, Dominique P., Pinard, Jean-Marc, Pipiras, Eva, Tabet, Anne-Claude, Aboura, Azzedine, Verloes, Alain

“…Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric…”
Get full text

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder by 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

“…Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder…”
Get full text

Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation by Quelin, Chloe, Spaggiari, Emmanuel, Khung-Savatovsky, Suonavy, Dupont, Celine, Pasquier, Laurent, Loeuillet, Laurence, Jaillard, Sylvie, Lucas, Josette, Marcorelles, Pascale, Journel, Hubert, Pluquailec-Bilavarn, Khantaby, Bazin, Anne, Verloes, Alain, Delezoide, Anne-Lise, Aboura, Azzedine, Guimiot, Fabien

“…Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrangement: only five patients have…”
Get full text

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies by 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

“…In 65 patients, who had unexplained ocular developmental anomalies (ODAs) with at least one other birth defect and/or intellectual disability, we performed…”
Get full text

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? by Jaillard, S, Dubourg, C, Gérard-Blanluet, M, Delahaye, A, Pasquier, L, Dupont, C, Henry, C, Tabet, A-C, Lucas, J, Aboura, A, David, V, Benzacken, B, Odent, S, Pipiras, E

“…Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With…”
Get more information

Application of a new molecular technique for the genetic evaluation of products of conception by Grati, Francesca R., Gomes, Denise Molina, Ganesamoorthy, Devika, Marcato, Livia, De Toffol, Simona, Blondeel, Eleonore, Malvestiti, Francesca, Loeuillet, Laurence, Ruggeri, Anna Maria, Wainer, Robert, Maggi, Federico, Aboura, Azzedine, Dupont, Celine, Tabet, Anne Claude, Guimiot, Fabien, Slater, Howard R., Simoni, Giuseppe, Vialard, François

“…ABSTRACT Objectives Karyotyping is a well‐established method of investigating the genetic content of product of conceptions (POCs). Because of the high rate of…”
Get full text

A long-term competent chimeric immune system in a dizygotic dichorionic twin by Biran, Valerie, Bornes, Marie, Aboura, Azzedine, Masmoudi, Sonia, Drunat, Séverine, Baumann, Clarisse, Osimani, Sara, Dalle, Jean-Hugues, Sterkers, Ghislaine, Verloes, Alain, Farnoux, Caroline, Maury, Laure, Schmitz, Thomas, Khung, Suonavy, Baud, Olivier

“…We present here a rare case that involved the long-term coexistence of 2 mature, functional, and equilibrated immune systems in a single child after fetofetal…”
Get full text

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations: Prenatal diagnosis of microduplication 22q11.2 by Dupont, Céline, Grati, Francesca Romana, Choy, Kwong Wai, Jaillard, Sylvie, Toutain, Jérôme, Maurin, Marie-Laure, Martínez-Conejero, Jose Antonio, Beneteau, Claire, Coussement, Aurélie, Molina-Gomes, Denise, Horelli-Kuitunen, Nina, Aboura, Azzedine, Tabet, Anne-Claude, Besseau-Ayasse, Justine, Bessieres-Grattagliano, Bettina, Simoni, Giuseppe, Ayala, Gustavo, Benzacken, Brigitte, Vialard, François

Get full text

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre–Chotzen syndrome by Spaggiari, Emmanuel, Aboura, Azzedine, Sinico, Martine, Mabboux, Philippe, Dupont, Céline, Delezoide, Anne-Lise, Guimiot, Fabien

“…Abstract Saethre–Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the…”
Get full text

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome by Dupont, Céline, Baumann, Clarisse, Le Du, Nathalie, Schaefer, Elise, Guimiot, Fabien, Boutaud, Lucile, Capri, Yline, Spaggiari, Emmanuel, Aboura, Azzedine, Benzacken, Brigitte, Tabet, Anne-Claude

Get full text