11. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. (2nd November 2022) Authors: Holt, Richard; Goudie, David; Verde, Alejandra Damián; Gardham, Alice; Ramond, Francis; Putoux, Audrey; Sarkar, Ajoy; Clowes, Virginia; Clayton-Smith, Jill; Banka, Siddharth; Cortazar Galarza, Laura; Thuret, Gilles; Ubeda Erviti, Marta; Zurutuza Ibarguren, Ane; Sáez Villaverde, Raquel; Tamayo Dur... Journal: Ophthalmic genetics Issue: Volume 43:Number 6(2022) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. 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) ↗
13. 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) ↗
14. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (7th October 2013) Authors: Chassaing, N.; Causse, A.; Vigouroux, A.; Delahaye, A.; Alessandri, J.‐L.; Boespflug‐Tanguy, O.; Boute‐Benejean, O.; Dollfus, H.; Duban‐Bedu, B.; Gilbert‐Dussardier, B.; Giuliano, F.; Gonzales, M.; Holder‐Espinasse, M.; Isidor, B.; Jacquemont, M.‐L.; Lacombe, D.; Martin‐Coignard, D.; Mathieu‐Dram... Journal: Clinical genetics Issue: Volume 86:Number 4(2014:Oct.) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia12. Issue 4 (7th February 2013) Authors: Plaisancié, Julie; Bailleul‐Forestier, Isabelle; Gaston, Véronique; Vaysse, Fréderic; Lacombe, Didier; Holder‐Espinasse, Muriel; Abramowicz, Marc; Coubes, Christine; Plessis, Ghislaine; Faivre, Laurence; Demeer, Bénédicte; Vincent‐Delorme, Catherine; Dollfus, Hélène; Sigaudy, Sabine; Guillén‐Nava... Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. 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) ↗
17. 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) ↗
18. 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) ↗
19. 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) ↗