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Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
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
Publication type:
Article
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36081
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
Publication type:
Article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
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
Publication type:
Article
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
By:
- Rambaud, Jérôme;
- Marey, Isabelle;
- Dupont, Céline;
- Perrin-Sabourin, Laurence;
- Capri, Yline;
- Tabet, Anne Claude;
- Benzacken, Brigitte;
- Verloes, Alain;
- Aboura, Azzedine;
- Gérard, Marion
Publication type:
Article
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 894, doi. 10.1002/ajmg.a.35258
By:
- Haddad, Véronique;
- Aboura, Azzedine;
- Tosca, Lucie;
- Guediche, Narjes;
- Mas, Anne-Elisabeth;
- L'Herminé, Aurore Coulomb;
- Druart, Luc;
- Picone, Olivier;
- Brisset, Sophie;
- Tachdjian, Gérard
Publication type:
Article
Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4540, doi. 10.1210/jc.2009-0186
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
Publication type:
Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
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
Publication type:
Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
By:
- Delahaye, Andrée;
- Bitoun, Pierre;
- Drunat, Séverine;
- Gérard-Blanluet, Marion;
- Chassaing, Nicolas;
- Toutain, Annick;
- Verloes, Alain;
- Gatelais, Frédérique;
- Legendre, Marie;
- Faivre, Laurence;
- Passemard, Sandrine;
- Aboura, Azzedine;
- Kaltenbach, Sophie;
- Quentin, Samuel;
- Dupont, Céline;
- Tabet, Anne-Claude;
- Amselem, Serge;
- Elion, Jacques;
- Gressens, Pierre;
- Pipiras, Eva
Publication type:
Article
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 8, p. 971, doi. 10.1038/sj.ejhg.5201635
By:
- Titomanlio, Luigi;
- Giurgea, Irina;
- Baumann, Clarisse;
- Elmaleh, Monique;
- Sachs, Philippe;
- Chalard, François;
- Aboura, Azzedine;
- Verloes, Alain
Publication type:
Article
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 3, p. 278, doi. 10.1038/sj.ejhg.5201342
By:
- Petit, François M.;
- Gajdos, Vincent;
- Parisot, Frédéric;
- Capel, Liliane;
- Aboura, Azzedine;
- Lachaux, Alain;
- Tachdjian, Gérard;
- Poös, Christian;
- Labrune, Philippe
Publication type:
Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Published in:
Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
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
Publication type:
Article
Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.
Published in:
Human Reproduction, 2008, v. 23, n. 1, p. 222
By:
- GÃ©rard Tachdjian;
- Azzedine Aboura;
- Marie-France PortnoÃ¯;
- Maud Pasquier;
- Nathalie Bourcigaux;
- Tabassome Simon;
- Ghislaine Rousseau;
- Lina Finkel;
- Moncef Benkhalifa;
- Sophie Christin-Maitre
Publication type:
Article
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Published in:
Prenatal Diagnosis, 2015, v. 35, n. 1, p. 35, doi. 10.1002/pd.4478
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
Publication type:
Article
Application of a new molecular technique for the genetic evaluation of products of conception.
Published in:
Prenatal Diagnosis, 2013, v. 33, n. 1, p. 32, doi. 10.1002/pd.4004
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
Publication type:
Article
Double-outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12.
Published in:
Prenatal Diagnosis, 2004, v. 24, n. 9, p. 708, doi. 10.1002/pd.970
By:
- L'Herminé-Coulomb, Aurore;
- Houyel, Lucille;
- Aboura, Azzedine;
- Audibert, François;
- Dal Soglio, Dorothée;
- Tachdjian, Gérard
Publication type:
Article
Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.
Published in:
Prenatal Diagnosis, 2003, v. 23, n. 6, p. 461, doi. 10.1002/pd.620
By:
- Sophie Brisset;
- Azzedine Aboura;
- François Audibert;
- Jean-Marc Costa;
- Aurore Coulomb L'Herminé;
- Valérie Gautier;
- René Frydman;
- Gérard Tachdjian
Publication type:
Article
Early and Rapid Prenatal Diagnosis of Monosomy 2q36.1 in Trophoblast Cells.
Published in:
Fetal Diagnosis & Therapy, 2006, v. 21, n. 5, p. 428, doi. 10.1159/000093885
By:
- Tachdjian, Gérard;
- Aboura, Azzedine;
- Brisset, Sophie;
- Dommergues, Marc;
- Gajdos, Vincent;
- Labrune, Philippe
Publication type:
Article

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