未登录.png)
分享.png)
收藏分享 收藏 分享 收藏 分享 收藏 From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation从苍白到白化病：OCA2外显子10跳读对色素减少的贡献
Mercier, Elina; Tregouet, David-Alexandre; Campagne, Sebastien; Michaud, Vincent; Green, David J.; Mesdaghi, Shahram; Le Gallais, Orane; Jouannigot-Castano, Orphee; Rigden, Daniel J.; Estay-Ahumada, Catherine; Hicks, David; Sergouniotis, Panagiotis I.; Arveiler, Benoit; Javerzat, Sophie 分享 收藏 分享 收藏 A patient with TPCN2-related hypopigmentation and ocular phenotypeCourdier, Cecile; Michaud, Vincent; Diallo, Modibo; Plaisant, Claudio; Lasseaux, Eulalie; Helot, Isabelle; Philippe, Elodie; Vrielynck, Els; Willems, Marjolaine; Arveiler, Benoit 分享 收藏 分享 收藏 分享 收藏 Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveCuinat, Silvestre; Quelin, Chloe; Effray, Claire; Dubourg, Christele; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Melie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurelien; Mace, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Helene; Attie-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raia; Nugues, Frederique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie 分享 收藏 Genotypic spectrum of albinism in MaliDiallo, Modibo; Sylla, Ousmane; Sidibe, Mohamed Kole; Plaisant, Claudio; Mercier, Elina; Sequeira, Angele; Javerzat, Sophie; Hadid, Abdelaziz; Lasseaux, Eulalie; Michaud, Vincent; Arveiler, Benoit 分享 收藏 The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinismFournier, Hugo; Hasdenteufel, Marie; Garrouteigt, Constance; Perie, Mathieu; Gliksohn, Antoine; Jouanne, Beatrice; Hadj-Rabia, Smail; Arveiler, Benoit; Morice-Picard, Fanny; Quintard, Bruno 分享 收藏 Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference CenterSeguy, Paul-Henri; Korobelnik, Jean-Francois; Delyfer, Marie-Noelle; Michaud, Vincent; Arveiler, Benoit; Lasseaux, Eulalie; Gattoussi, Sarra; Rougier, Marie-Benedicte; Trin, Kilian; Morice-Picard, Fanny; Ghomashchi, Nathalie; Coste, Valentine 分享 收藏 Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinismMichaud, Vincent; Sequeira, Angele; Mercier, Elina; Lasseaux, Eulalie; Plaisant, Claudio; Hadj-Rabia, Smail; Whalen, Sandra; Bonneau, Dominique; Dieux-Coeslier, Anne; Morice-Picard, Fanny; Coursimault, Juliette; Arveiler, Benoit; Javerzat, Sophie 分享 收藏 Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesAngelini, Chloe; Durand, Christelle Marie; Fergelot, Patricia; Deforges, Julie; Vital, Anne; Menegon, Patrice; Sarrazin, Elizabeth; Bellance, Remi; Mathis, Stephane; Gonzalez, Victoria; Renaud, Mathilde; Frismand, Solene; Schmitt, Emmanuelle; Rouanet, Marie; Burglen, Lydie; Chabrol, Brigitte; Desnous, Beatrice; Arveiler, Benoit; Stevanin, Giovanni; Coupry, Isabelle; Goizet, Cyril 分享 收藏 A multilayered approach to the analysis of genetic data from individuals with suspected albinismSergouniotis, Panagiotis I.; Michaud, Vincent; Lasseaux, Eulalie; Campbell, Christopher; Plaisant, Claudio; Javerzat, Sophie; Birney, Ewan; Ramsden, Simon C.; Black, Graeme C.; Arveiler, Benoit 分享 收藏 ARF1-related disorder: phenotypic and molecular spectrumARF1-related障碍: 表型和分子谱Agathe, Jean-Madeleine de Sainte; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Celine; Alkuraya, Fowzan S.; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L.; Bryant, Emily M.; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M.; Friedman, Jennifer R.; Iascone, Maria; Cereda, Anna; Miao, Terence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N.; Owens, Joshua W.; Husami, Ammar; Chaudhari, Bimal P.; Stone, Brandon S.; Burns, Katie; Li, Rachel; de Lange, Iris M.; Biehler, Margaux; Ginglinger, Emmanuelle; Gerard, Benedicte; Stottmann, Rolf W.; Trimouille, Aurelien 分享 收藏 The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinismMichaud, Vincent; Lasseaux, Eulalie; Green, David J.; Gerrard, Dave T.; Plaisant, Claudio; Fitzgerald, Tomas; Birney, Ewan; Arveiler, Benoit; Black, Graeme C.; Sergouniotis, Panagiotis, I 分享 收藏 Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter StudyKuht, Helen J.; Maconachie, Gail D. E.; Han, Jinu; Kessel, Line; van Genderen, Maria M.; McLean, Rebecca J.; Hisaund, Michael; Tu, Zhanhan; Hertle, Richard W.; Gronskov, Karen; Bai, Dayong; Wei, Aihua; Li, Wei; Jiao, Yonghong; Smirnov, Vasily; Choi, Jae-Hwan; Tobin, Martin D.; Sheth, Viral; Purohit, Ravi; Dawar, Basu; Girach, Ayesha; Strul, Sasha; May, Laura; Chen, Fred K.; Jeffery, Rachael C. Heath; Aamir, Abdullah; Sano, Ronaldo; Jin, Jing; Brooks, Brian P.; Kohl, Susanne; Arveiler, Benoit; Montoliu, Lluis; Engle, Elizabeth C.; Proudlock, Frank A.; Nishad, Garima; Pani, Prateek; Varma, Girish; Gottlob, Irene; Thomas, Mervyn G. 分享 收藏 The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesKruijt, Charlotte C.; Gradstein, Libe; Bergen, Arthur A.; Florijn, Ralph J.; Arveiler, Benoit; Lasseaux, Eulalie; Zanlonghi, Xavier; Bagdonaite-Bejarano, Laura; Fulton, Anne B.; Yahalom, Claudia; Blumenfeld, Anat; Perez, Yonatan; Birk, Ohad S.; de Wit, Gerard C.; Schalij-Delfos, Nicoline E.; van Genderen, Maria M. 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
