Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

por Corton, Marta, Nishiguchi, Koji M., Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D., Ayuso, Carmen, Rivolta, Carlo
Publicado 2013

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

por Corton, Marta, Nishiguchi, Koji M., Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D., Ayuso, Carmen, Rivolta, Carlo
Publicado 2016

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome

por Panagiotou, Evangelia S., Papathomas, Thomas, Nikopoulos, Konstantinos, Koukoula, Stavrenia, Quinodoz, Mathieu, Rehman, Atta Ur, Giannopoulos, Theodoros, Rivolta, Carlo, Konstas, Anastasios G.
Publicado 2020

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

por Saqib, Muhammad Arif Nadeem, Nikopoulos, Konstantinos, Ullah, Ehsan, Sher Khan, Falak, Iqbal, Jamila, Bibi, Rabia, Jarral, Afeefa, Sajid, Sundus, Nishiguchi, Koji M., Venturini, Giulia, Ansar, Muhammad, Rivolta, Carlo
Publicado 2015

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

por Nikopoulos, Konstantinos, Avila-Fernandez, Almudena, Corton, Marta, Lopez-Molina, Maria Isabel, Perez-Carro, Raquel, Bontadelli, Lara, Di Gioia, Silvio Alessandro, Zurita, Olga, Garcia-Sandoval, Blanca, Rivolta, Carlo, Ayuso, Carmen
Publicado 2015

CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

por Gonçalves, André Brás, Hasselbalch, Sarah Kirstine, Joensen, Beinta Biskopstø, Patzke, Sebastian, Martens, Pernille, Ohlsen, Signe Krogh, Quinodoz, Mathieu, Nikopoulos, Konstantinos, Suleiman, Reem, Damsø Jeppesen, Magnus Per, Weiss, Catja, Christensen, Søren Tvorup, Rivolta, Carlo, Andersen, Jens S, Farinelli, Pietro, Pedersen, Lotte Bang
Publicado 2021

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

por Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride
Publicado 2016

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

por Nikopoulos, Konstantinos, Cisarova, Katarina, Quinodoz, Mathieu, Koskiniemi-Kuendig, Hanna, Miyake, Noriko, Farinelli, Pietro, Rehman, Atta Ur, Khan, Muhammad Imran, Prunotto, Andrea, Akiyama, Masato, Kamatani, Yoichiro, Terao, Chikashi, Miya, Fuyuki, Ikeda, Yasuhiro, Ueno, Shinji, Fuse, Nobuo, Murakami, Akira, Wada, Yuko, Terasaki, Hiroko, Sonoda, Koh-Hei, Ishibashi, Tatsuro, Kubo, Michiaki, Cremers, Frans P. M., Kutalik, Zoltán, Matsumoto, Naomichi, Nishiguchi, Koji M., Nakazawa, Toru, Rivolta, Carlo
Publicado 2019

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

por Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke
Publicado 2020

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

por Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, de la Cerda, Berta, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., Roosing, Susanne
Publicado 2023