Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Célia Azevedo Soares"'
Autor:
Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-4 (2024)
Abstract Background Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous manifestations, is caused by heterozygous pathogenic variants in NF1 gene. While patients with NF1 often exhibit
Externí odkaz:
https://doaj.org/article/cfb400650cd94a818d9ff88d77034158
Autor:
Diogo Nogueira, Célia Azevedo Soares
Publikováno v:
Acta Médica Portuguesa (2024)
N/A.
Externí odkaz:
https://doaj.org/article/7de68538ba5748e6bd24fff8727bbcc0
Autor:
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan suppo
Externí odkaz:
https://doaj.org/article/9875a6d3f0cd430c869ea987bc399996
Autor:
Ana Marta, MD, MSc, Vasco Miranda, MD, MSc, Miguel Lume, MD, MSc, Ricardo Parreira, MD, MSc, Célia Azevedo Soares, MD, PhD, Maria João Menéres, MD, MSc, Carolina Lemos, PhD, João Melo Beirão, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 4, Iss 3, Pp 100443- (2024)
Purpose: To evaluate the visual impairment of patients with inherited retinal diseases (IRDs), as per the national table of disabilities (TNI). Design: Retrospective, single-center cohort study. Participants: Patients with a clinical diagnosis of IRD
Externí odkaz:
https://doaj.org/article/9b821dd5626c44c18a19fc0a93c9aad7
Publikováno v:
Acta Médica Portuguesa, Vol 33, Iss 9 (2020)
N/a.
Externí odkaz:
https://doaj.org/article/25426347d7974b42aa0b54d61bdd5391
Autor:
Célia Azevedo Soares, João Incio, Miguel Reis Ferreira, João Barbosa-Breda, Liliana Páris, José Luís Sandoval
Publikováno v:
Acta Médica Portuguesa, Vol 29, Iss 12 (2016)
N/A.
Externí odkaz:
https://doaj.org/article/18fed32885d64a5ab0e40326912fa615
Autor:
Célia Azevedo Soares, Manuela Ferreira Almeida, Gabriela Soares, Natália Tkachenko, Ana Maria Fortuna, Carla Carmona
Publikováno v:
American Journal of Medical Genetics Part A. 191:1525-1529
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f147a0a2b7c7a88c3c6a2b3917840d5
https://doi.org/10.1002/ajmg.a.63174
https://doi.org/10.1002/ajmg.a.63174
Autor:
Ricardo Machado Soares, Ana Luísa Carvalho, Sílvia Simão, Célia Azevedo Soares, Miguel Raimundo, C Henrique Alves, António Francisco Ambrósio, Joaquim Murta, Jorge Saraiva, Rufino Silva, João Pedro Marques
Publikováno v:
Ophthalmology Retina.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d09a4467809d15fd172071b6c2b33ec
https://doi.org/10.1016/j.oret.2023.02.001
https://doi.org/10.1016/j.oret.2023.02.001
Publikováno v:
Clinical Dysmorphology. 31:50-53
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c0f9ee207f011700ea2af3fc6ef0937
https://doi.org/10.1097/mcd.0000000000000398
https://doi.org/10.1097/mcd.0000000000000398
Autor:
Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira, Flávia Santos, Célia Azevedo Soares, Catarina Prior, Nataliya Tkachenko, Rosário Santos, Arjan P. M. de Brouwer, Ariana Jacome, Beatriz Porto, Paula Jorge
Publikováno v:
Genes, 13, 1
Genes, 13
Genes
Genes, Vol 13, Iss 78, p 78 (2022)
Genes; Volume 13; Issue 1; Pages: 78
Genes, 13
Genes
Genes, Vol 13, Iss 78, p 78 (2022)
Genes; Volume 13; Issue 1; Pages: 78
We describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ad36ef45ecf8a881e32066fe1664e9
https://repository.ubn.ru.nl/handle/2066/247113
https://repository.ubn.ru.nl/handle/2066/247113
