Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Karolina Kaminska"'
Autor:
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 230-237 (2024)
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disord
Externí odkaz:
https://doaj.org/article/0860ff5ddc024d86ada8fe8cf5af697c
Autor:
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w
Externí odkaz:
https://doaj.org/article/95febfe0764a45129e5a016236db8fd5
Autor:
Cristina Santos, Andreia Almeida, Rita Pinto, Karolina Kaminska, Virginie G. Peter, Ana-Berta Sousa, Carlo Rivolta, Luísa Coutinho-Santos
Publikováno v:
Ophthalmic Genetics. 43:576-580
Autor:
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Publikováno v:
Human molecular genetics, vol 32, iss 4
The purpose of this paper is to identify likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37b
https://escholarship.org/uc/item/4z14k3r2
https://escholarship.org/uc/item/4z14k3r2
Autor:
Cristina, Santos, Andreia, Almeida, Rita, Pinto, Karolina, Kaminska, Virginie G, Peter, Ana-Berta, Sousa, Carlo, Rivolta, Luísa, Coutinho-Santos
Publikováno v:
Ophthalmic genetics. 43(4)
Publikováno v:
Case Reports in Dermatology, Vol 5, Iss 2, Pp 203-209 (2013)
Hand, foot and mouth disease (HFMD) is a highly contagious viral infection characterized by typical maculopapular or vesicular eruptions on the hands and feet and in the oral cavity. It affects predominantly children and/or immunocompromised adults.
Externí odkaz:
https://doaj.org/article/c5a6cca4e7f443a1bab37413db2d740e
Autor:
Andrea Grosso, Lawrence A. Yannuzzi, Stephen H. Tsang, Piero Ceruti, David Sarraf, Ehud Zamir, Karolina Kaminska, Mathieu Quinodoz, Antonio Amoroso, Silvia Deaglio, Jasmine H. Francis, Mauro Fioretto, Carlo Rivolta, Giacomo Calzetti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea30eac9d1690afc902615d9408646ca
https://hdl.handle.net/11562/1086166
https://hdl.handle.net/11562/1086166
Autor:
Obiora Chukwujama, Friederike Fenski, Aigul Kuttumuratova, Martin Weber, Karolina Kaminska, Sophia Backhaus, Christoph Henking, Lisa L Siebers, Aixa Y Aleman-Diaz
Publikováno v:
The Lancet Child & Adolescent Health. 2:891-904
To promote children's health in Europe, the WHO Regional Office for Europe developed a strategy for child and adolescent health for the period 2015-20, which was adopted by all 53 European member states. The priorities of the strategy are broad and i
Autor:
Conti, Giovanni Marco1,2 (AUTHOR), Cancellieri, Francesca3,4 (AUTHOR), Quinodoz, Mathieu3,4,5 (AUTHOR), Kaminska, Karolina3,4 (AUTHOR), Vaclavik, Veronika1 (AUTHOR), Rivolta, Carlo3,4,5 (AUTHOR), Tran, Hoai Viet1,2,6 (AUTHOR)
Publikováno v:
Case Reports in Ophthalmology. Jan-Dec2024, Vol. 15 Issue 1, p230-237. 8p.
Publikováno v:
Gene Therapy Weekly; 823/2024, p868-868, 1p