1. Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. (4th March 2019) Authors: Michaud, Vincent; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Pennamen, Perrine; Plaisant, Claudio; Lasseaux, Eulalie; Arveiler, Benoit Journal: Ophthalmic genetics Issue: Volume 40:Number 2(2019) Page Start: 161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible. Issue 5 (30th March 2017) Authors: Hinzpeter, Alexandre; Reboul, Marie‐Pierre; Callebaut, Isabelle; Zordan, Cécile; Costes, Bruno; Guichoux, Julie; Iron, Albert; Lacombe, Didier; Martin, Natacha; Arveiler, Benoit; Fanen, Pascale; Fergelot, Patricia; Girodon, Emmanuelle Journal: Clinical case reports Issue: Volume 5:Issue 5(2017) Page Start: 658 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations. Issue 3 (11th January 2019) Authors: Van‐Gils, Julien; Naudion, Sophie; Toutain, Jérôme; Lancelot, Gwenaelle; Attié‐Bitach, Tania; Blesson, Sophie; Demeer, Bénédicte; Doray, Bérénice; Gonzales, Marie; Martinovic, Jelena; Whalen, Sandra; Taine, Laurence; Arveiler, Benoit; Lacombe, Didier; Fergelot, Patricia Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 420 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1. Issue 6 (23rd March 2019) Authors: Bonnemason‐Carrere, Paul; Morice‐Picard, Fanny; Pennamen, Perrine; Arveiler, Benoit; Fergelot, Patricia; Goizet, Cyril; Hellegouarch, Mélanie; Lacombe, Didier; Plaisant, Claudio; Raclet, Virginie; Rooryck, Caroline; Lasseaux, Eulalie; Trimouille, Aurélien Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1030 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. Issue 9 (24th November 2018) Authors: Monfermé, Solene; Lasseaux, Eulalie; Duncombe-Poulet, Catherine; Hamel, Christian; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Zanlonghi, Xavier; Dollfus, Hélène; Perdomo, Yaurama; Bonneau, Dominique; Korobelnik, Jean-François; Plaisant, Claudio; Michaud, Vincent; Pennamen, Perrine; Rooryck-Th... Journal: British journal of ophthalmology Issue: Volume 103:Issue 9(2019) Page Start: 1239 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. (3rd April 2021) Authors: Michaud, Vincent; Fiore, Mathieu; Coste, Valentine; Huguenin, Yoann; Bordet, Jean-Claude; Plaisant, Claudio; Lasseaux, Eulalie; Morice-Picard, Fanny; Arveiler, Benoit Journal: Platelets Issue: Volume 32:Number 3(2021) Page Start: 420 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations. Issue 12 (20th September 2016) Authors: Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M.; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B. A.; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christ... Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Typical facial gestalt in X‐linked Kabuki syndrome. Issue 12 (2nd August 2016) Authors: Margot, Henri; Geneviève, David; Gatinois, Vincent; Arveiler, Benoit; Moutton, Sébastien; Touitou, Isabelle; Lacombe, Didier Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. Issue 11 (29th June 2016) Authors: Lopez, Estelle; Berenguer, Marie; Tingaud-Sequeira, Angèle; Marlin, Sandrine; Toutain, Annick; Denoyelle, Françoise; Picard, Arnaud; Charron, Sabine; Mathieu, Guilaine; de Belvalet, Harmony; Arveiler, Benoit; Babin, Patrick J; Lacombe, Didier; Rooryck, Caroline Journal: Journal of medical genetics Issue: Volume 53:Issue 11(2016) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome. Issue 12 (17th August 2007) Authors: Nava, Caroline; Hanna, Nadine; Michot, Caroline; Pereira, Sabrina; Pouvreau, Nathalie; Niihori, Tetsuya; Aoki, Yoko; Matsubara, Yoichi; Arveiler, Benoit; Lacombe, Didier; Pasmant, Eric; Parfait, Béatrice; Baumann, Clarisse; Héron, Delphine; Sigaudy, Sabine; Toutain, Annick; Rio, Marlène; Goldenbe... Journal: Journal of medical genetics Issue: Volume 44:Issue 12(2007) Page Start: 763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗