Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Malena Daich Varela"'
Autor:
Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
Abstract Background 5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a
Externí odkaz:
https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff
Autor:
Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics ser
Externí odkaz:
https://doaj.org/article/a4196dab4d534e369ef825091e1bfe14
Autor:
Yoga Advaith Veturi, MSc, William Woof, PhD, Teddy Lazebnik, PhD, Ismail Moghul, PhD, Peter Woodward-Court, PhD, MBBS, Siegfried K. Wagner, BMBCh, Thales Antonio Cabral de Guimarães, PhD, MD, Malena Daich Varela, PhD, MD, Bart Liefers, PhD, Praveen J. Patel, MBBChir MD(Res), Stephan Beck, PhD, Andrew R. Webster, FRCOphth, Omar Mahroo, PhD, MBBChir, Pearse A. Keane, MD, MB BCH BAO, Michel Michaelides, MD, Konstantinos Balaskas, MD, Nikolas Pontikos, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 2, Pp 100258- (2023)
Purpose: Rare disease diagnosis is challenging in medical image-based artificial intelligence due to a natural class imbalance in datasets, leading to biased prediction models. Inherited retinal diseases (IRDs) are a research domain that particularly
Externí odkaz:
https://doaj.org/article/12ee7796b3234e6eaea51052d9cf4f74
Autor:
Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman
Publikováno v:
BMJ Open, Vol 13, Iss 3 (2023)
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients b
Externí odkaz:
https://doaj.org/article/5945d6aef20f41bfa056c55a51aabb6a
Autor:
Malena Daich Varela, Sagnik Sen, Thales Antonio Cabral De Guimaraes, Nathaniel Kabiri, Nikolas Pontikos, Konstantinos Balaskas, Michel Michaelides
Publikováno v:
Graefe's Archive for Clinical and Experimental Ophthalmology.
Retinal diseases are a leading cause of blindness in developed countries, accounting for the largest share of visually impaired children, working-age adults (inherited retinal disease), and elderly individuals (age-related macular degeneration). Thes
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:
Patricio Schlottmann, José Luna Pinto, Natalia Labat, Maria Belen Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Barbaro, Alejandro Álvarez Mendiara, Carolina Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, Maria Emilia Aucar, Daniel Martin, Gerardo Ormaechea, M. Inga, Anibal Francone, Martin Charles, Tamara Zompa, Pablo Pérez, Vanesa Lotersztein, Pedro Nuova, Ivana Canonero, Michel Michaelides, Gavin Arno, Malena Daich Varela
Background: To conduct the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describe the comprehensive genetic profile of a large cohort of patients. Methods: This is a retrospective study analyzing medical records
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85b4c78839dd7cbb107b31f600130661
https://doi.org/10.21203/rs.3.rs-2371280/v1
https://doi.org/10.21203/rs.3.rs-2371280/v1
Autor:
Nikolas Pontikos, William Woof, Thales Antonio Cabral de Guimarães, Malena Daich Varela, Saoud Al‐Khuzaei, Sagnik Sen, Yichen Liu, Bart Liefers, Jennifer Furman, Konstantinos Balaskas, Michel Michaelides
Publikováno v:
Acta Ophthalmologica. 100
Publikováno v:
Ophthalmic Genetics. 43:110-115
Background To describe a patient with a history of obesity, retinal dystrophy, type II diabetes, and mild cognitive impairment; found to harbour biallelic splice-site variants in VPS13B. Materials & methods A complete ophthalmic evaluation was perfor
Autor:
Nikolas Pontikos, William Woof, Advaith Veturi, Behnam Javanmardi, Miguel Ibarra-Arellano, Alexander Hustinx, Ismail Moghul, Yichen Liu, Kristina Heß, Michalis Georgiou, Maximilian Pfau, Mital Shah, Jing Yu, Saoud Al-Khuzaei, Siegfried Wagner, Malena Daich Varela, Thales Cabral de Guimarães, Sagnik Sen, Nathaniel Kabiri, Quang Nguyen, Jennifer Furman, Bart Liefers, Aaron Lee, Samantha De Silva, Caio Texeira, Fabiana Motta, Yu Fujinami-Yokokawa, Gavin Arno, Kaoru Fujinami, Juliana Sallum, Savita Madhusudhan, Susan Downes, Frank Holz, Konstantinos Balaskas, Andrew Webster, Omar Mahroo, Peter Krawitz, Michel Michaelides
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::984dbc3b763aed3cdc1f03becb82400b
https://doi.org/10.21203/rs.3.rs-2110140/v1
https://doi.org/10.21203/rs.3.rs-2110140/v1