Search Results - "Cabral De Guimarães, Thales Antônio"

Stargardt misdiagnosis: How ocular genetics helps by Ibanez, Manuel Benjamin, Guimarães, Thales Antonio Cabral, Capasso, Jenina, Bello, Nicholas, Levin, Alex V.

“…Ocular Genetics at Wills Eye Hospital sees a wide range of rare disorders for accurate diagnosis. To demonstrate how focused consultation and genetic testing…”
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Treatments for dry age-related macular degeneration: therapeutic avenues, clinical trials and future directions by Cabral de Guimaraes, Thales Antonio, Daich Varela, Malena, Georgiou, Michalis, Michaelides, Michel

“…Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the developed world. The identification of the central role of…”
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Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials by Daich Varela, Malena, Cabral de Guimaraes, Thales Antonio, Georgiou, Michalis, Michaelides, Michel

“…Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. Given its monogenic nature and the immunological and anatomical…”
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Gene therapy for neovascular age-related macular degeneration: rationale, clinical trials and future directions by Guimaraes, Thales Antonio Cabral de, Georgiou, Michalis, Bainbridge, James W B, Michaelides, Michel

“…Age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness in the developed world. Antivascular endothelial growth factor…”
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Structural evaluation in inherited retinal diseases by Daich Varela, Malena, Esener, Burak, Hashem, Shaima A, Cabral de Guimaraes, Thales Antonio, Georgiou, Michalis, Michaelides, Michel

“…Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited…”
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Eye2Gene by Pontikos, Nikolas, Woof, William, Guimarães, Thales Antonio Cabral, Varela, Malena Daich, Al‐Khuzaei, Saoud, Sen, Sagnik, Liu, Yichen, Liefers, Bart, Furman, Jennifer, Balaskas, Konstantinos, Michaelides, Michel

“…Purpose: Inherited retinal diseases (IRDs) are single‐gene disorders caused by genetic mutations in any one of over 270 genes. Identifying the causative gene…”
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KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2 by Georgiou, Michalis, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, De Guimarães, Thales Antônio Cabral, Robson, Anthony G., Mahroo, Omar A., Pontikos, Nikolas, Arno, Gavin, Fujinami-Yokokawa, Yu, Leo, Shaun Michael, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jimenez-Rolando, Belen, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Carreño, Ester, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Wissinger, Bernd, Webster, Andrew R., Héon, Elise, Khan, Arif O., Zrenner, Eberhart, Michaelides, Michel

“…•KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes.•Disease course can be…”
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Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) by Nguyen, Quang, Woof, William, Kabiri, Nathaniel, Sen, Sagnik, Daich Varela, Malena, Cabral De Guimaraes, Thales Antonio, Shah, Mital, Sumodhee, Dayyanah, Moghul, Ismail, Al-Khuzaei, Saoud, Liu, Yichen, Hollyhead, Catherine, Tailor, Bhavna, Lobo, Loy, Veal, Carl, Archer, Stephen, Furman, Jennifer, Arno, Gavin, Gomes, Manuel, Fujinami, Kaoru, Madhusudhan, Savita, Mahroo, Omar A, Webster, Andrew R, Balaskas, Konstantinos, Downes, Susan M, Michaelides, Michel, Pontikos, Nikolas, Hollyhead, Catherine, Tailor, Bhavna, Lobo, Loy, Veal, Carl, Archer, Stephen

“…IntroductionInherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes…”
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SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease by Veturi, Yoga Advaith, Woof, William, Lazebnik, Teddy, Moghul, Ismail, Woodward-Court, Peter, Wagner, Siegfried K., Cabral de Guimarães, Thales Antonio, Daich Varela, Malena, Liefers, Bart, Patel, Praveen J., Beck, Stephan, Webster, Andrew R., Mahroo, Omar, Keane, Pearse A., Michaelides, Michel, Balaskas, Konstantinos, Pontikos, Nikolas

“…Rare disease diagnosis is challenging in medical image-based artificial intelligence due to a natural class imbalance in datasets, leading to biased prediction…”
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KCNV 2- Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course— KCNV 2 Study Group Report 1 by Georgiou, Michalis, Robson, Anthony G, Fujinami, Kaoru, Leo, Shaun M, Vincent, Ajoy, Nasser, Fadi, Thales Antônio Cabral De Guimarães, Khateb, Samer, Pontikos, Nikolas, Yu Fujinami-Yokokawa, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Vargas, Mauricio E, Thiadens, Alberta AHJ, de Carvalho, Emanuel R, Xuan-Thanh-An, Nguyen, Gavin, Arno, Mahroo, Omar A, Martin-Merida, Maria Inmaculada, Jimenez-Rolando, Belen, Gordo, Gema, Carreño, Ester, Ayuso, Carmen, Dror, Sharon, Kohl, Susanne, Huckfeldt, Rachel M, Wissinger, Bernd, Boon, Camiel JF, Banin, Eyal, Pennesi, Mark E, Khan, Arif O, Webster, Andrew R, Eberhart Zrenner, Héon, Elise, Michaelides, Michel

“…PurposeTo investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults.Study designThis was…”
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Best Vitelliform Macular Dystrophy Natural History Study Report 1 by Laich, Yannik, Georgiou, Michalis, Fujinami, Kaoru, Daich Varela, Malena, Fujinami-Yokokawa, Yu, Hashem, Shaima Awadh, Cabral de Guimaraes, Thales Antonio, Mahroo, Omar A., Webster, Andrew R., Michaelides, Michel

“…To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults…”
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KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1 by Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, Leo, Shaun M., Vincent, Ajoy, Nasser, Fadi, Cabral De Guimarães, Thales Antônio, Khateb, Samer, Pontikos, Nikolas, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, Arno, Gavin, Mahroo, Omar A., Martin-Merida, Maria Inmaculada, Jimenez-Rolando, Belen, Gordo, Gema, Carreño, Ester, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Wissinger, Bernd, Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Khan, Arif O., Webster, Andrew R., Zrenner, Eberhart, Héon, Elise, Michaelides, Michel

“…To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. This was a multicenter…”
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Artificial intelligence in retinal disease: clinical application, challenges, and future directions by Daich Varela, Malena, Sen, Sagnik, De Guimaraes, Thales Antonio Cabral, Kabiri, Nathaniel, Pontikos, Nikolas, Balaskas, Konstantinos, Michaelides, Michel

“…Retinal diseases are a leading cause of blindness in developed countries, accounting for the largest share of visually impaired children, working-age adults…”
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Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings by Laich, Yannik, Georgiou, Michalis, Fujinami, Kaoru, Daich Varela, Malena, Fujinami-Yokokawa, Yu, Hashem, Shaima Awadh, Cabral de Guimaraes, Thales Antonio, Mahroo, Omar A, Webster, Andrew R, Michaelides, Michel

“…To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults…”
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Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects by Sen, Sagnik, de Guimaraes, Thales Antonio Cabral, Filho, Aluisio Gameiro, Fabozzi, Lorenzo, Pearson, Rachael A., Michaelides, Michel

“…Stem cell-based therapy has gained importance over the past decades due to huge advances in science and technology behind the generation and directed…”
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