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2019

Brun A, Yu X, Obringer C, Ajoy D, Haser E, Stoetzel C, Roux MJ, Messaddeq N, Dollfus H, Marion V. In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies. Exp Eye Res 2019;:107721.

Chou H-T, Apelt L, Farrell DP, White SR, Woodsmith J, Svetlov V, Goldstein JS, Nager AR, Li Z, Muller J, Dollfus H, Nudler E, Stelzl U, DiMaio F, Nachury MV, Walz T. The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach. Structure Published Online First: 2 July 2019. doi:10.1016/j.str.2019.06.006

Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Hum Mutat Published Online First: 22 May 2019. doi:10.1002/humu.23799

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez M-J, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J. Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. Clin Genet 2019;95:384–97.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine J-P, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res 2019;47:D1018–27.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva J-P, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze J-F, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel J-A, Audo I. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Hum Mutat 2019;40:765–87.

Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H, ERN-EYE Ontology Study Group. An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet J Rare Dis 2019;14:8.

Schaefer E, Delvallée C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, Holder-Espinasse M, Ghoumid J, Dollfus H, Muller J. Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. Front Genet 2019;10:21.

Rey T, Tarabeux J, Gerard B, Delbarre M, Le Béchec A, Stoetzel C, Prasad M, Laugel-Haushalter V, Kawczynski M, Muller J, Chelly J, Dollfus H, Manière M-C, Bloch-Zupan A. Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement. Methods Mol Biol 2019;1922:407–52.

Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière M-C, Friant S, Dollfus H, Bloch-Zupan A. A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. Front Genet 2019;10:504.