Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum

Por Kringen, Marianne K, Stormo, Camilla, Berg, Jens Petter, Terry, Sharon F, Vocke, Christine M, Rizvi, Samar, Hendig, Doris, Piehler, Armin P
Publicado no Mol Genet Genomic Med (2015)

Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression

Por Maino, Eleonora, Wojtal, Daria, Evagelou, Sonia L, Farheen, Aiman, Wong, Tatianna W Y, Lindsay, Kyle, Scott, Ori, Rizvi, Samar Z, Hyatt, Elzbieta, Rok, Matthew, Visuvanathan, Shagana, Chiodo, Amanda, Schneeweiss, Michelle, Ivakine, Evgueni A, Cohn, Ronald D
Publicado no EMBO Mol Med (2021)

Clinical characteristics of SARS-CoV-2 infection in children with cystic fibrosis: An international observational study

Por Bain, Robert, Cosgriff, Rebecca, Zampoli, Marco, Elbert, Alexander, Burgel, Pierre-Régis, Carr, Siobhán B, Castaños, Claudio, Colombo, Carla, Corvol, Harriet, Faro, Albert, Goss, Christopher H, Gutierrez, Hector, Jung, Andreas, Kashirskaya, Nataliya, Marshall, Bruce C, Melo, Joel, Mondejar-Lopez, Pedro, de Monestrol, Isabelle, Naehrlich, Lutz, Padoan, Rita, Pastor-Vivero, Maria Dolores, Rizvi, Samar, Salvatore, Marco, Filho, Luiz Vicente Ribeiro Ferreira da Silva, Brownlee, Keith G, Haq, Iram J, Brodlie, Malcolm
Publicado no J Cyst Fibros (2021)

The global impact of SARS-CoV-2 in 181 people with cystic fibrosis

Por McClenaghan, Elliot, Cosgriff, Rebecca, Brownlee, Keith, Ahern, Susannah, Burgel, Pierre-Régis, Byrnes, Catherine A, Colombo, Carla, Corvol, Harriet, Cheng, Stephanie Y, Daneau, Géraldine, Elbert, Alexander, Faro, Albert, Goss, Christopher H, Gulmans, Vincent, Gutierrez, Hector, de Monestrol, Isabelle, Jung, Andreas, Justus, Lutz Nährlich, Kashirskaya, Nataliya, Marshall, Bruce C, McKone, Edward, Middleton, Peter G, Mondejar-Lopez, Pedro, Pastor-Vivero, M Dolores, Padoan, Rita, Rizvi, Samar, Ruseckaite, Rasa, Salvatore, Marco, Stephenson, Anne L., Filho, Luiz Vicente R da Silva, Melo, Joel, Zampoli, Marco, Carr, Siobhán B
Publicado no J Cyst Fibros (2020)

COVID-19 vaccine prioritisation for people with cystic fibrosis

Por Carr, Siobhán B, Cosgriff, Rebecca, Harutyunyan, Satenik, Middleton, Peter G, Ruseckaite, Rasa, Ahern, Susannah, Daneau, Géraldine, Filho, Luiz Vicente R F da Silva, Stephenson, Anne L, Cheng, Stephanie Y, Melo, Joel, Corvol, Harriet, Burgel, Pierre-Régis, Nährlich, Lutz, McKone, Edward, Colombo, Carla, Salvatore, Marco, Padoan, Rita, Abdrakhmanov, Olzhas, Gulmans, Vincent, Byrnes, Catherine A, Amelina, Elena, Kondratyeva, Elena, Zhekayte, Elena, Kashirskaya, Nataliya, Zampoli, Marco, Pastor-Vivero, M Dolores, Mondejar-Lopez, Pedro, de Monestrol, Isabelle, Jung, Andeas, McClenaghan, Elliot, Brownlee, Keith, Rizvi, Samar, Goss, Christopher H, Elbert, Alexander, Faro, Albert, Gutierrez, Hector, Marshall, Bruce C
Publicado no J Cyst Fibros (2021)