Items where Author is "Andréasson, Sten"

2022

Schroeder, Marion and Peter, Virginie G. and Gränse, Lotta and Andréasson, Sten and Rivolta, Carlo and Kjellström, Ulrika. (2022) A novel phenotype associated with the R162W variant in the KCNJ13 gene. Ophthalmic genetics, 43 (4). pp. 500-507.

2019

Peter, Virginie G. and Nikopoulos, Konstantinos and Quinodoz, Mathieu and Granse, Lotta and Farinelli, Pietro and Superti-Furga, Andrea and Andréasson, Sten and Rivolta, Carlo. (2019) A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic Genetics, 40 (2). pp. 177-181.

2016

Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776.

Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555.