OpenURL Connection Search

Select item for more details and to access through your institution.

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
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
High frequency of x chromosome abnormalities in women with short stature and elevated liver enzymes.
Published in:
2014
By:
- Roulot, Dominique;
- Malan, Valérie;
- Ziol, Marianne;
- Linglart, Agnès;
- Bourcier, Valérie;
- Beaugrand, Michel;
- Benzacken, Brigitte
Publication type:
Journal Article
Obesity leads to higher risk of sperm DNA damage in infertile patients.
Published in:
Asian Journal of Andrology, 2013, v. 15, n. 5, p. 622, doi. 10.1038/aja.2013.65
By:
- Dupont, Charlotte;
- Faure, Céline;
- Sermondade, Nathalie;
- Boubaya, Marouane;
- Eustache, Florence;
- Clément, Patrice;
- Briot, Pascal;
- Berthaut, Isabelle;
- Levy, Vincent;
- Cedrin-Durnerin, Isabelle;
- Benzacken, Brigitte;
- Chavatte-Palmer, Pascale;
- Levy, Rachel
Publication type:
Article
Spontaneous conception after autologous hematopoietic stem cell transplantation: a case report.
Published in:
Asian Journal of Andrology, 2013, v. 15, n. 1, p. 155, doi. 10.1038/aja.2012.119
By:
- Dupont, Charlotte;
- Bally, Cécile;
- Eustache, Florence;
- Sermondade, Nathalie;
- Benzacken, Brigitte;
- Fenaux, Pierre;
- Lévy, Rachel
Publication type:
Article
Acrocentric chromosome polymorphisms: beware of cryptic translocations.
Published in:
Prenatal Diagnosis, 2001, v. 21, n. 2, p. 96, doi. 10.1002/1097-0223(200102)21:2<96::AID-PD986>3.0.CO;2-O
By:
- Benzacken, Brigitte;
- Monier-Gavelle, Frédérique;
- Pierre Siffroi, Jean;
- Agbo, Placide;
- Chalvon, Arnaud;
- Philippe Wolf, Jean
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
Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q.
Published in:
2007
By:
- Cohen, David;
- Martel, Claire;
- Wilson, Anna;
- Déchambre, Nicole;
- Amy, Céline;
- Duverger, Ludovic;
- Guile, Jean-Marc;
- Pipiras, Eva;
- Benzacken, Brigitte;
- Cavé, Hélène;
- Cohen, Laurent;
- Héron, Delphine;
- Plaza, Monique
Publication type:
Correction Notice
Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q.
Published in:
Journal of Autism & Developmental Disorders, 2007, v. 37, n. 8, p. 1585, doi. 10.1007/s10803-006-0228-5
By:
- Cohen, David;
- Martel, Claire;
- Wilson, Anna;
- Déchambre, Nicole;
- Amy, Céline;
- Duverger, Ludovic;
- Guile, Jean-Marc;
- Pipiras, Eva;
- Benzacken, Brigitte;
- Cavé, Hélène;
- Cohen, Laurent;
- Héron, Delphine;
- Plaza, Monique
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
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
By:
- Schneider, Anouck;
- Benzacken, Brigitte;
- Guichet, Agnès;
- Verloes, Alain;
- Bonneau, Dominique;
- Collot, Nathalie;
- Dastot-Le-Moal, Florence;
- Goossens, Michel;
- Taine, Laurence;
- Landais, Emilie;
- Gaillard, Dominique;
- Doco-Fenzy, Martine
Publication type:
Article
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 4, p. 409, doi. 10.1038/sj.ejhg.5201358
By:
- Brémond-Gignac, Dominique;
- Crolla, John A.;
- Copin, Henri;
- Guichet, Agnès;
- Bonneau, Dominique;
- Taine, Laurence;
- Lacombe, Didier;
- Baumann, Clarisse;
- Benzacken, Brigitte;
- Verloes, Alain
Publication type:
Article
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 6, p. 452, doi. 10.1038/sj.ejhg.5200984
By:
- Dupont, Celine;
- Pipiras, Eva;
- Chantot-Bastaraud, Sandra;
- Verloes, Alain;
- Baumann, Clarisse;
- Wolf, Jean-Philippe;
- Benzacken, Brigitte
Publication type:
Article
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 639, doi. 10.1111/cge.13688
By:
- Larcher, Lise;
- Buratti, Julien;
- Héron‐Longe, Bénédicte;
- Benzacken, Brigitte;
- Pipiras, Eva;
- Keren, Boris;
- Delahaye‐Duriez, Andrée
Publication type:
Article
Familial sperm polyploidy induced by genetic spermatogenesis failure: case report.
Published in:
2001
By:
- Benzacken, Brigitte;
- Gavelle, Frédérique Monier;
- Martin-Pont, Brigitte;
- Dupuy, Olivier;
- Lièvre, Nicole;
- Hugues, Jean-Noël;
- Wolf, Jean-Philippe;
- Benzacken, B;
- Gavelle, F M;
- Martin-Pont, B;
- Dupuy, O;
- Lièvre, N;
- Hugues, J N;
- Wolf, J P
Publication type:
journal 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
An auto-controlled prospective comparison of two embryos culture media (G III series versus ISM) for IVF and ICSI treatments.
Published in:
Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 11/12, p. 575, doi. 10.1007/s10815-009-9357-z
By:
- Sifer, Christophe;
- Handelsman, Deborah;
- Grange, Emilie;
- Porcher, Raphael;
- Poncelet, Christophe;
- Martin-Pont, Brigitte;
- Benzacken, Brigitte;
- Wolf, Jean-Philippe
Publication type:
Article
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Published in:
Prenatal Diagnosis, 2015, v. 35, n. 8, p. 801, doi. 10.1002/pd.4613
By:
- Grati, Francesca Romana;
- Molina Gomes, Denise;
- Ferreira, Jose Carlos Pinto B.;
- Dupont, Celine;
- Alesi, Viola;
- Gouas, Laetitia;
- Horelli‐Kuitunen, Nina;
- Choy, Kwong Wai;
- García‐Herrero, Sandra;
- Vega, Alberto Gonzalez;
- Piotrowski, Krzysztof;
- Genesio, Rita;
- Queipo, Gloria;
- Malvestiti, Barbara;
- Hervé, Bérénice;
- Benzacken, Brigitte;
- Novelli, Antonio;
- Vago, Philippe;
- Piippo, Kirsi;
- Leung, Tak Yeung
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
Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array.
Published in:
Fetal Diagnosis & Therapy, 2006, v. 21, n. 6, p. 485, doi. 10.1159/000095658
By:
- Delahaye, Andrée;
- Pipiras, Eva;
- Delorme-Vincent, Catherine;
- Benkhalifa, Moncef;
- Kasakyan, Serdar;
- Devisme, Louise;
- Wolf, Jean-Philippe;
- Benzacken, Brigitte
Publication type:
Article
Usefulness of fluorescence in situ hybridization for the diagnosis of Turner mosaic fetuses with small ring X chromosomes.
Published in:
2000
By:
- Siffroi, Jean Pierre;
- Dupuy, Olivier;
- Joye, Nicole;
- Le Bourhis, Corine;
- Benzacken, Brigitte;
- Portnoi, Marie-France;
- Berkane, Nadia;
- Franco, Jean Claude;
- Studer, Christophe;
- Carbonne, Bruno;
- Gonzales, Marie;
- Bucourt, Martine;
- Uzan, Serge;
- Uzan, Michèle;
- Milliez, Jacques;
- Wolf, Jean Philippe;
- Taillemite, Jean-Louis;
- Dadoune, Jean Pierre;
- Siffroi, J P;
- Dupuy, O
Publication type:
journal article
Unexpected inherited chromosomal translocation during prenatal diagnosis for maternal age: risk for a nondetectable karyotype imbalance in offspring.
Published in:
1998
By:
- Siffroi, Jean-Pierre;
- Heim, Nazbanou;
- Benzacken, Brigitte;
- Franco, Jean-Claude;
- Le Bourhis, Corine;
- Siffroi, J P;
- Heim, N;
- Benzacken, B;
- Franco, J C;
- Le Bourhis, C
Publication type:
journal article
PML/RARα rearrangement in acute promyelocytic leukaemia with t(1;17) elucidated using fluorescence in situ hybridization.
Published in:
British Journal of Haematology, 1997, v. 98, n. 2, p. 440, doi. 10.1046/j.1365-2141.1997.2253042.x
By:
- Eclache, Virginie;
- Benzacken, Brigitte;
- Le Roux, Genevieve;
- Casassus, Philippe;
- Chomienne, Christine
Publication type:
Article

Found: 29