Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Fernanda Belga Ottoni Porto"'
Autor:
Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark E Pennesi, Paul Yang, Molly Marra, Robert K Koenekoop, Irma Lopez, Anna Matynia, Michael Gorin, Ruifang Sui, Fengxia Yao, Kerry Goetz, Fernanda Belga Ottoni Porto, Rui Chen
Publikováno v:
bioRxiv
Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In this study, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2a510ea44ca1aa3db229beb79e4483
https://doi.org/10.1101/2023.01.02.522522
https://doi.org/10.1101/2023.01.02.522522
Autor:
Chinthana Thangavel, Gavin Arno, Renae Elaine Bertrand, Rui Chen, Anthony G. Robson, Renata T Simões, Qingnan Liang, Jun Wang, Kaitlyn H. Xiong, Fernanda Belga Ottoni Porto, Xinye Qian, Rola Ba-Abbad, Keren J. Carss, F. Lucy Raymond, Andrew R. Webster, Shirley Aparecida Madureira Sampaio
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Previous studies suggest that ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. However, no pathogenic variant in ceramide synthases has been identified in human pa
Autor:
Bart P. Leroy, Fernanda Belga Ottoni Porto, Byron L. Lam, Robert K. Koenekoop, Jacque L. Duncan, Stephen R. Russell, Aniz Girach, David G. Birch
Publikováno v:
Retina (Philadelphia, Pa.)
Retina (Philadelphia, Pa.), vol 41, iss 5
Retina (Philadelphia, Pa.), vol 41, iss 5
Supplemental Digital Content is Available in the Text. In this article, we review the clinical characteristics of Leber congenital amaurosis due to CEP290 mutations (LCA10) and its impact on patients and society. We discuss the challenges associated
Publikováno v:
Revista Médica de Minas Gerais. 32
Autor:
Pedro Luiz Lage Bodour Danielian, Luciene Chaves Fernandes, Daniel Bodour Danielian Filho, Fernanda Belga Ottoni Porto
Publikováno v:
eOftalmo. 8
Autor:
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Publikováno v:
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
Autor:
Gavin Arno, Rubens Belfort, Fernanda Belga Ottoni Porto, Juliana Maria Ferraz Sallum, Rosane Guazi Resende, Fabiana Louise Motta
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:728-752
Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Cl
Autor:
Fernanda Belga Ottoni Porto, João Bosco Pesquero, Fabiana Louise Motta, Rosane Guazi Resende, Renan Paulo Martin, Elizabeth Wohler, Juliana Maria Ferraz Sallum, Caio Perez Gomes
Publikováno v:
Genes, Vol 11, Iss 1, p 24 (2019)
Genes
Volume 11
Issue 1
Genes
Volume 11
Issue 1
A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of new variants is important for the conclusion of molecular diagnosis and the medical manageme
Autor:
Mingchu Xu, Hui Li, Yumei Li, Peiquan Zhao, Irma Lopez-Solache, Radwan Ajlan, Fabiana Louise Motta, Robert K. Koenekoop, Juliana Maria Ferraz Sallum, Lavan Rajan, Keqing Wang, Shijing Wu, Rui Chen, David G. Birch, Justin Branch, Renata T Simões, Ruifang Sui, Zachry T. Soens, Fernanda Belga Ottoni Porto, Zhisheng Yuan
Publikováno v:
Human Mutation. 38:1521-1533
The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here we evaluated how many