1. Identification of PITX3 mutations in individuals with various ocular developmental defects. (4th May 2018) Authors: Zazo Seco, Celia; Plaisancié, Julie; Lupasco, Tatiana; Michot, Caroline; Pechmeja, Jacmine; Delanne, Julian; Cottereau, Edouard; Ayuso, Carmen; Corton, Marta; Calvas, Patrick; Ragge, Nicola; Chassaing, Nicolas Journal: Ophthalmic genetics Issue: Volume 39:Number 3(2018) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Extreme myopia in a family with a missense PAX6 mutation: extended phenotype. (2nd January 2019) Authors: Smirnov, Vasily M.; Calvas, Patrick; Drumare, Isabelle; Marks, Caroline; Defoort-Dhellemmes, Sabine Journal: Ophthalmic genetics Issue: Volume 40:Number 1(2019) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. OTX2 mutations contribute to the otocephaly-dysgnathia complex. Issue 6 (10th May 2012) Authors: Chassaing, Nicolas; Sorrentino, Susanna; Davis, Erica E; Martin-Coignard, Dominique; Iacovelli, Anthony; Paznekas, William; Webb, Bryn D; Faye-Petersen, Ona; Encha-Razavi, Férechté; Lequeux, Leopoldine; Vigouroux, Adeline; Yesilyurt, Ahmet; Boyadjiev, Simeon A; Kayserili, Hülya; Loget, Philippe; ... Journal: Journal of medical genetics Issue: Volume 49:Issue 6(2012) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Issue 7 (22nd April 2016) Authors: Chassaing, Nicolas; Ragge, Nicola; Plaisancié, Julie; Patat, Oliver; Geneviève, David; Rivier, François; Malrieu‐Eliaou, Claudie; Hamel, Christian; Kaplan, Josseline; Calvas, Patrick Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial. Issue 3 (March 2022) Authors: Coarelli, Giulia; Heinzmann, Anna; Ewenczyk, Claire; Fischer, Clara; Chupin, Marie; Monin, Marie-Lorraine; Hurmic, Hortense; Calvas, Fabienne; Calvas, Patrick; Goizet, Cyril; Thobois, Stéphane; Anheim, Mathieu; Nguyen, Karine; Devos, David; Verny, Christophe; Ricigliano, Vito A G; Mangin, Jean-Fr... Journal: Lancet neurology Issue: Volume 21:Issue 3(2022) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022) Authors: Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta... Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. No evidence of allelic heterogeneity in theDYT1 gene of European patients with early onset torsion dystonia. Issue 10 (1st October 2001) Authors: Tuffery-Giraud, Sylvie; Cavalier, Laurent; Roubertie, Agathe; Guittard, Caroline; Carles, Soukeyna; Calvas, Patrick; Echenne, Bernard; Coubes, Philippe; Claustres, Mireille Journal: Journal of medical genetics Issue: Volume 38:Issue 10(2001) Page Start: e35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lessons learned from 40 novel PIGA patients and a review of the literature. (26th May 2020) Authors: Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Céc... Journal: Epilepsia Issue: Volume 61:issue 6(2020) Page Start: 1142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. Issue 4 (24th January 2013) Authors: Soler, Vincent José; Tran-Viet, Khanh-Nhat; Galiacy, Stéphane D; Limviphuvadh, Vachiranee; Klemm, Thomas Patrick; St Germain, Elizabeth; Fournié, Pierre R; Guillaud, Céline; Maurer-Stroh, Sebastian; Hawthorne, Felicia; Suarez, Cyrielle; Kantelip, Bernadette; Afshari, Natalie A; Creveaux, Isabelle... Journal: Journal of medical genetics Issue: Volume 50:Issue 4(2013) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. Issue 12 (2nd September 2016) Authors: Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean‐Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz‐Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha‐Boukbiza, Ouhaïd; Mutez, Eug... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗