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. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome1. Issue 1 (13th December 2012) Authors: Debost‐Legrand, Anne; Eymard‐Pierre, Eleonore; Pebrel‐Richard, Céline; Gouas, Laetitia; Goumy, Carole; Giollant, Michel; Ayed, Wiem; Tchirkov, Andreï; Francannet, Christine; Vago, Philippe Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. Issue 9 (27th June 2016) Authors: Goumy, Carole; Gay‐Bellile, Mathilde; Salaun, Gaelle; Kemeny, Stephan; Eymard‐Pierre, Eleonore; Biard, Marie; Pebrel‐Richard, Celine; Vanlieferinghen, Philippe; Francannet, Christine; Tchirkov, Andrei; Laurichesse, Helene; Rouzade, Charles; Gouas, Laetitia; Vago, Philippe Journal: Birth defects research Issue: Volume 106:Issue 9(2016) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. (25th November 2014) Authors: Goumy, Carole; Laffargue, Fanny; Eymard‐Pierre, Eléonore; Kemeny, Stéphen; Gay‐Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel‐Richard, Céline; Vago, Philippe Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate. Issue 6 (18th April 2014) Authors: Goumy, Carole; Gay‐Bellile, Mathilde; Eymard‐Pierre, Eléonore; Kemeny, Stephan; Gouas, Laetitia; Déchelotte, Pierre; Gallot, Denis; Véronèse, Lauren; Tchirkov, Andrei; Pebrel‐Richard, Céline; Vago, Philippe Journal: Birth defects research Issue: Volume 100:Issue 6(2014:Jun.) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis. (13th July 2016) Authors: Gay‐Bellile, Mathilde; Romero, Pierre; Cayre, Anne; Véronèse, Lauren; Privat, Maud; Singh, Shalini; Combes, Patricia; Kwiatkowski, Fabrice; Abrial, Catherine; Bignon, Yves‐Jean; Vago, Philippe; Penault‐Llorca, Frédérique; Tchirkov, Andreï Journal: Journal of pathology Issue: Volume 2:Number 4(2016) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature. (7th September 2022) Authors: Capron, Céline; Januel, Louis; Vieville, Gaëlle; Jaillard, Sylvie; Kuentz, Paul; Salaun, Gaëlle; Nadeau, Gwenaël; Clement, Patrice; Brechard, Marie Pierre; Herve, Bérénice; Dupont, Jean Michel; Gruchy, Nicolas; Chambon, Pascal; Abdelhedi, Fatma; Dahlen, Eric; Vago, Philippe; Harbuz, Radu; Plotton... Journal: Andrology Issue: Volume 10:Number 8(2022) Page Start: 1625 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study. (10th May 2016) Authors: Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly‐Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux‐Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel‐Roy, Camille; Carré‐Pigeon, Frédérique; Flori, E... Journal: Prenatal diagnosis Issue: Volume 36:Number 6(2016) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. (24th June 2015) Authors: 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; de la Vega, Alberto Gonzalez; Piotrowski, Krzysztof; Genesio, Rita; Queipo, Gloria; Malvestiti, Barbara; H... Journal: Prenatal diagnosis Issue: Volume 35:Number 8(2015:Aug.) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?. Issue 16 (4th March 2022) Authors: Goumy, Carole; Veronese, Lauren; Stamm, Rodrigue; Domas, Quentin; Hadjab, Kamil; Gallot, Denis; Laurichesse, Hélène; Delabaere, Amélie; Gouas, Laetitia; Salaun, Gaelle; Perbel-Richard, Céline; Vago, Philippe; Tchirkov, Andrei Journal: Human molecular genetics Issue: Volume 31:Issue 16(2022) Page Start: 2669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗