Célia Azevedo Soares - Search Results

Year	Number of Results
2016	1
2020	1
2021	2
2022	2
2023	6
2024	3

1

The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.

Riccardi F, Marcinkute R, Azevedo Soares C, Calapod PS, Cerqueira JM, Avram E, Ding C; ESHG-Young committee. Riccardi F, et al. Among authors: azevedo soares c. Eur J Hum Genet. 2022 Mar;30(3):252-255. doi: 10.1038/s41431-021-01019-0. Epub 2022 Jan 14. Eur J Hum Genet. 2022. PMID: 35027647 Free PMC article. No abstract available.

2

Predicting factors of neurodevelopmental performance in children with phenylketonuria.

Azevedo Soares C, Ferreira Almeida M, Soares G, Tkachenko N, Fortuna AM, Carmona C. Azevedo Soares C, et al. Am J Med Genet A. 2023 Jun;191(6):1525-1529. doi: 10.1002/ajmg.a.63174. Epub 2023 Mar 5. Am J Med Genet A. 2023. PMID: 36872876

3

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP. Cortinhal T, et al. Among authors: soares ca. Graefes Arch Clin Exp Ophthalmol. 2024 Jun;262(6):1883-1897. doi: 10.1007/s00417-023-06360-2. Epub 2024 Jan 8. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38189974 Free PMC article.

4

The socioeconomic epidemiology of inherited retinal diseases in Portugal.

Marta A, Marques JP, Santos C, Coutinho-Santos L, Vaz-Pereira S, Costa J, Arede P, Félix R, Geada S, Gouveia N, Silva R, Baptista M, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J. Marta A, et al. Among authors: azevedo soares c. Orphanet J Rare Dis. 2024 Apr 9;19(1):151. doi: 10.1186/s13023-024-03161-6. Orphanet J Rare Dis. 2024. PMID: 38594754 Free PMC article.

5

Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.

Soares RM, Carvalho AL, Simão S, Soares CA, Raimundo M, Alves CH, Ambrósio AF, Murta J, Saraiva J, Silva R, Marques JP. Soares RM, et al. Among authors: soares ca. Ophthalmol Retina. 2023 Jul;7(7):628-638. doi: 10.1016/j.oret.2023.02.001. Epub 2023 Feb 9. Ophthalmol Retina. 2023. PMID: 36764454 Free article.

6

Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

Da Silva JD, Pereira Â, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Soares CA, Nunes IS, Fortuna AM, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Da Silva JD, et al. Among authors: soares ca. Pediatr Res. 2023 Dec 5. doi: 10.1038/s41390-023-02943-1. Online ahead of print. Pediatr Res. 2023. PMID: 38052860

7

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Uguen K, et al. Among authors: soares ca. Clin Genet. 2021 Oct;100(4):386-395. doi: 10.1111/cge.14015. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34164801

8

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.

Soares CA, Tkachenko N, Vale-Fernandes E, Barreiro M, Abreu M, Reis CF, Soares G, Fortuna AM, Soares AR. Soares CA, et al. JBRA Assist Reprod. 2023 Jun 22;27(2):180-184. doi: 10.5935/1518-0557.20220012. JBRA Assist Reprod. 2023. PMID: 35916466 Free PMC article.

9

Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.

Sá Silva J, Alves JE, Azevedo Soares C, Tkachenko N, Garrido C. Sá Silva J, et al. Among authors: azevedo soares c. Clin Dysmorphol. 2022 Jan 1;31(1):50-53. doi: 10.1097/MCD.0000000000000398. Clin Dysmorphol. 2022. PMID: 34693919 No abstract available.

10

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Maia N, Nabais Sá MJ, Oliveira C, Santos F, Soares CA, Prior C, Tkachenko N, Santos R, de Brouwer APM, Jacome A, Porto B, Jorge P. Maia N, et al. Among authors: soares ca. Genes (Basel). 2021 Dec 28;13(1):78. doi: 10.3390/genes13010078. Genes (Basel). 2021. PMID: 35052418 Free PMC article.

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