1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia. Issue 11 (1st November 2001) Authors: Siffroi, Jean Pierre; Benzacken, Brigitte; Angelopoulou, Roxani; Le Bourhis, Corine; Berthaut, Isabelle; Kanafani, Samia; Smahi, Asmae; Wolf, Jean Philippe; Dadoune, Jean Pierre Journal: Journal of medical genetics Issue: Volume 38:Issue 11(2001) Page Start: 802 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018) Authors: Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromosomal microarray analysis in ocular developmental anomalies. (June 2012) Authors: Delahaye, Andrée; Pipiras, Eva; Benzacken, Brigitte Journal: Expert review of molecular diagnostics Issue: Volume 12:Number 5(2012) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Chromosomal microarray analysis in ocular developmental anomalies. (June 2012) Authors: Delahaye, Andrée; Pipiras, Eva; Benzacken, Brigitte Journal: Expert review of molecular diagnostics Issue: Volume 12:Number 5(2012) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome. Issue 10 (5th August 2013) Authors: Dupont, Céline; Baumann, Clarisse; Le Du, Nathalie; Schaefer, Elise; Guimiot, Fabien; Boutaud, Lucile; Capri, Yline; Spaggiari, Emmanuel; Aboura, Azzedine; Benzacken, Brigitte; Tabet, Anne‐Claude Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability. Issue 9 (28th May 2014) Authors: Tabet, Anne‐Claude; Leroy, Camille; Dupont, Céline; Serrano, Emilie; Hernandez, Karen; Gallard, Jennifer; Pouvreau, Nathalie; Gadisseux, Jean‐François; Benzacken, Brigitte; Verloes, Alain Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2335 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. Issue 8 (1st June 2017) Authors: 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 Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2081 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability. Issue 4 (7th January 2020) Authors: Larcher, Lise; Buratti, Julien; Héron‐Longe, Bénédicte; Benzacken, Brigitte; Pipiras, Eva; Keren, Boris; Delahaye‐Duriez, Andrée Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 639 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype‐genotype correlations. (16th September 2014) Authors: 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; Be... Journal: Prenatal diagnosis Issue: Volume 35:Number 1(2015:Jan.) Page Start: 35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗