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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Published in:
2019
By:
- Guterman, Sarah;
- Beneteau, Claire;
- Redon, Sylvia;
- Dupont, Céline;
- Missirian, Chantal;
- Jaeger, Pauline;
- Herve, Berenice;
- Jacquin, Clémence;
- Douet‐Guilbert, Nathalie;
- Till, Marianne;
- Tabet, Anne‐Claude;
- Moradkhani, Kamran;
- Malan, Valérie;
- Doco‐Fenzy, Martine;
- Vialard, François;
- Douet-Guilbert, Nathalie;
- Tabet, Anne-Claude;
- Doco-Fenzy, Martine
Publication type:
journal article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
By:
- Lévy, Jonathan;
- Coussement, Aurélie;
- Dupont, Céline;
- Guimiot, Fabien;
- Baumann, Clarisse;
- Viot, Géraldine;
- Passemard, Sandrine;
- Capri, Yline;
- Drunat, Séverine;
- Verloes, Alain;
- Pipiras, Eva;
- Benzacken, Brigitte;
- Dupont, Jean‐Michel;
- Tabet, Anne‐Claude
Publication type:
Article
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2335, doi. 10.1002/ajmg.a.36619
By:
- Tabet, Anne‐Claude;
- Leroy, Camille;
- Dupont, Céline;
- Serrano, Emilie;
- Hernandez, Karen;
- Gallard, Jennifer;
- Pouvreau, Nathalie;
- Gadisseux, Jean‐François;
- Benzacken, Brigitte;
- Verloes, Alain
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
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
Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0030778
By:
- Tordjman, Sylvie;
- Anderson, George M.;
- Botbol, Michel;
- Toutain, Annick;
- Sarda, Pierre;
- Carlier, Michèle;
- Saugier-Veber, Pascale;
- Baumann, Clarisse;
- Cohen, David;
- Lagneaux, Céline;
- Tabet, Anne-Claude;
- Verloes, Alain
Publication type:
Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
2019
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 594, doi. 10.1038/ejhg.2012.32
By:
- Tabet, Anne-Claude;
- Pilorge, Marion;
- Delorme, Richard;
- Amsellem, Frédérique;
- Pinard, Jean-Marc;
- Leboyer, Marion;
- Verloes, Alain;
- Benzacken, Brigitte;
- Betancur, Catalina
Publication type:
Article
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 540, doi. 10.1038/ejhg.2011.244
By:
- Tabet, Anne-Claude;
- Pilorge, Marion;
- Delorme, Richard;
- Amsellem, Frédérique;
- Pinard, Jean-Marc;
- Leboyer, Marion;
- Verloes, Alain;
- Benzacken, Brigitte;
- Betancur, Catalina
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
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
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Published in:
Clinical Genetics, 2023, v. 103, n. 2, p. 156, doi. 10.1111/cge.14247
By:
- Niceta, Marcello;
- Pizzi, Simone;
- Inzana, Francesca;
- Peron, Angela;
- Bakhtiari, Somayeh;
- Nizon, Mathilde;
- Levy, Jonathan;
- Mancini, Cecilia;
- Cogné, Benjamin;
- Radio, Francesca Clementina;
- Agolini, Emanuele;
- Cocciadiferro, Dario;
- Novelli, Antonio;
- Salih, Mustafa A.;
- Recalcati, Maria Paola;
- Arancio, Rosangela;
- Besnard, Marianne;
- Tabet, Anne‐Claude;
- Kruer, Michael C.;
- Priolo, Manuela
Publication type:
Article
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Published in:
Clinical Genetics, 2022, v. 101, n. 3, p. 364, doi. 10.1111/cge.14099
By:
- Lévy, Jonathan;
- Cogan, Guillaume;
- Maruani, Anna;
- Maillard, Arnaud;
- Dupont, Céline;
- Drunat, Séverine;
- Rachid, Myriam;
- Atzori, Paola;
- Delorme, Richard;
- Jeyarajah, Sabatini;
- Isidor, Bertrand;
- Pichon, Olivier;
- Moradkhani, Kamran;
- Verloes, Alain;
- Tabet, Anne‐Claude
Publication type:
Article
LEF1 haploinsufficiency causes ectodermal dysplasia.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714
By:
- Lévy, Jonathan;
- Capri, Yline;
- Rachid, Myriam;
- Dupont, Céline;
- Vermeesch, Joris R.;
- Devriendt, Koen;
- Verloes, Alain;
- Tabet, Anne‐Claude;
- Bailleul‐Forestier, Isabelle
Publication type:
Article
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
Published in:
Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6
By:
- Dupont, Celine;
- Bucourt, Martine;
- Guimiot, Fabien;
- Kraoua, Lilia;
- Smiljkovski, Daniel;
- Le Tessier, Dominique;
- Lebugle, Camille;
- Gerard, Benedicte;
- Spaggiari, Emmanuel;
- Bourdoncle, Pierre;
- Tabet, Anne-Claude;
- Benzacken, Brigitte;
- Dupont, Jean-Michel
Publication type:
Article
Expanding the phenotype of GTF2E2‐associated trichothiodystrophy.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 3, p. e222, doi. 10.1111/jdv.19545
By:
- Sperelakis‐Beedham, Brian;
- Ruaud, Lyse;
- Vial, Yoann;
- Rachid, Myriam;
- Ageorges, Faustine;
- Goujon, Louise;
- Verloes, Alain;
- Tabet, Anne‐Claude;
- Bourrat, Emmanuelle;
- Lévy, Jonathan
Publication type:
Article
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 6, p. 734, doi. 10.1002/pd.6340
By:
- Courdier, Cécile;
- Boudjarane, John;
- Malan, Valérie;
- Muti, Christine;
- Sperelakis‐Beedham, Brian;
- Odent, Sylvie;
- Jaillard, Sylvie;
- Quelin, Chloé;
- Le Caignec, Cédric;
- Patat, Olivier;
- Dubucs, Charlotte;
- Julia, Sophie;
- Schluth‐Bolard, Caroline;
- Goumy, Carole;
- Redon, Sylvia;
- Gaillard, Jean‐Baptiste;
- Huynh, Minh Tuan;
- Dupont, Céline;
- Tabet, Anne‐Claude;
- Cogan, Guillaume
Publication type:
Article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Published in:
Prenatal Diagnosis, 2022, v. 42, n. 1, p. 118, doi. 10.1002/pd.6074
By:
- Lesieur‐Sebellin, Marion;
- Till, Marianne;
- Khau Van Kien, Philippe;
- Herve, Bérénice;
- Bourgon, Nicolas;
- Dupont, Céline;
- Tabet, Anne‐Claude;
- Barrois, Mathilde;
- Coussement, Aurélie;
- Loeuillet, Laurence;
- Mousty, Eve;
- Ea, Vuthy;
- El Assal, Amal;
- Mary, Laura;
- Jaillard, Sylvie;
- Beneteau, Claire;
- Le Vaillant, Claudine;
- Coutton, Charles;
- Devillard, Françoise;
- Goumy, Carole
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
Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?
Published in:
Prenatal Diagnosis, 2005, v. 25, n. 3, p. 193, doi. 10.1002/pd.1102
By:
- Karmous-Benailly, Houda;
- Tabet, Anne-Claude;
- Thaly, Adeline;
- Dupuy, Olivier;
- Huten, Yolène;
- Luton, Dominique;
- Baumann, Clarisse;
- Delezoide, Anne-Lise
Publication type:
Article
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 473, doi. 10.1002/humu.24182
By:
- Franken, Gijs A. C.;
- Müller, Dominik;
- Mignot, Cyril;
- Keren, Boris;
- Lévy, Jonathan;
- Tabet, Anne‐Claude;
- Germanaud, David;
- Tejada, María‐Isabel;
- Kroes, Hester Y.;
- Nievelstein, Rutger A. J.;
- Brimble, Elise;
- Ruzhnikov, Maria;
- Claverie‐Martin, Felix;
- Szczepańska, Maria;
- Ćuk, Martin;
- Latta, Femke;
- Konrad, Martin;
- Martínez‐Cruz, Luis A.;
- Bindels, René J. M.;
- Hoenderop, Joost G. J.
Publication type:
Article
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Published in:
2015
By:
- Masliah-Planchon, Julien;
- Dupont, Céline;
- Vartzelis, George;
- Trimouille, Aurélien;
- Eymard-Pierre, Eléonore;
- Gay-Bellile, Mathilde;
- Renaldo, Florence;
- Dorboz, Imen;
- Pagan, Cécile;
- Quentin, Samuel;
- Elmaleh, Monique;
- Kotsogianni, Christina;
- Konstantelou, Elissavet;
- Drunat, Séverine;
- Tabet, Anne-Claude;
- Boespflug-Tanguy, Odile
Publication type:
Case Study

Found: 25