Search

Your search keyword '"Gonçalves, Ana R."' showing total 28 results
Start Over Author "Gonçalves, Ana R."
28 results on '"Gonçalves, Ana R."'

9. Reply

Author

Fernandes, Samuel R., Rodrigues, Rita V., Bernardo, Sónia, Cortez-Pinto, João, Rosa, Isadora, Pereira da Silva, João, Gonçalves, Ana R., Valente, Ana, Baldaia, Cilénia, Moura Santos, Paula, Correia, Luís A., Venâncio, José, Campos, Paula, Dias Pereira, António, and Velosa, José

Published
2017
Full Text
View/download PDF

10. Polar marine biology science in Portugal and Spain: Recent advances and future perspectives

Author

Xavier, José C., Barbosa, Andrés, Agustí, Susana, Alonso-Sáez, Laura, Alvito, Pedro, Ameneiro, Julia, Ávila, Conxita, Baeta, Alexandra, Canário, João, Carmona, Raquel, Catry, Paulo, Ceia, Filipe, Clark, Melody S., Cristobo, Francisco J., Cruz, Bruno, Duarte, Carlos M., Figuerola, Blanca, Gili, Josep-Maria, Gonçalves, Ana R., Gordillo, Francisco J.L., Granadeiro, José P., Guerreiro, Miguel, Isla, Enrique, Jiménez, Carlos, López-González, Pablo J., Lourenço, Sílvia, Marques, João C., Moreira, Elena, Mota, Ana M., Nogueira, Marta, Núñez-Pons, Laura, Orejas, Covadonga, Paiva, Vitor H., Palanques, Albert, Pearson, Gareth A., Pedrós-Alió, Carlos, Peña Cantero, Álvaro L., Power, Deborah M., Ramos, Jaime A., Rossi, Sergi, Seco, José, Sañé, Elisabet, Serrão, Ester A., Taboada, Sergi, Tavares, Sílvia, Teixidó, Núria, Vaqué, Dolors, Valente, Tiago, Vázquez, Elsa, Vieira, Rui P., and Viñegla, Benjamin

Published
2013
Full Text
View/download PDF

11. EP1288: TRANSMURAL REMISSION IMPROVES CLINICAL OUTCOMES UP TO 5 YEARS IN PATIENTS WITH CROHN'S DISEASE

Author

Serrazina, Juliana, primary, Botto, Inês, additional, Fernandes, Samuel R., additional, Garcia, Joana Lemos, additional, Neves, João A. Cunha, additional, Campelo, Pedro, additional, Carvalho, Diana, additional, Bernardo, Sónia, additional, Gonçalves, Ana R., additional, Valente, Ana, additional, Moura-Santos, Paula, additional, Rosa, Isadora, additional, Sousa, Helena Tavares, additional, Ramos, Jaime, additional, Venâncio, José M., additional, Leitão, João, additional, Claro, Isabel, additional, Correia, Luís Araujo, additional, and Marinho, Rui T., additional

Published
2022
Full Text
View/download PDF

18. The InBIO Barcoding Initiative Database: DNA barcodes of Portuguese Diptera 01.

Author

Ferreira, Sonia A., Andrade, Rui, Gonçalves, Ana R., Sousa, Pedro, Paupério, Joana, Fonseca, Nuno A., and Beja, Pedro

Subjects
GENETIC barcoding, DIPTERA, INSECT morphology, SPECIES diversity, COLLECTION & preservation of biological specimens
Abstract

Background The InBIO Barcoding Initiative (IBI) Diptera 01 dataset contains records of 203 specimens of Diptera. All specimens have been morphologically identified to species level, and belong to 154 species in total. The species represented in this dataset correspond to about 10% of continental Portugal dipteran species diversity. All specimens were collected north of the Tagus river in Portugal. Sampling took place from 2014 to 2018, and specimens are deposited in the IBI collection at CIBIO, Research Center in Biodiversity and Genetic Resources. New information This dataset contributes to the knowledge on the DNA barcodes and distribution of 154 species of Diptera from Portugal and is the first of the planned IBI database public releases, which will make available genetic and distribution data for a series of taxa. All specimens have their DNA barcodes made publicly available in the Barcode of Life Data System (BOLD) online database and the distribution dataset can be freely accessed through the Global Biodiversity Information Facility (GBIF). [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

21. Transmural Healing Is Associated with Improved Long-term Outcomes of Patients with Crohnʼs Disease

Author

Fernandes, Samuel R., primary, Rodrigues, Rita V., additional, Bernardo, Sónia, additional, Cortez-Pinto, João, additional, Rosa, Isadora, additional, da Silva, João P., additional, Gonçalves, Ana R., additional, Valente, Ana, additional, Baldaia, Cilénia, additional, Santos, Paula M., additional, Correia, Luís, additional, Venâncio, José, additional, Campos, Paula, additional, Pereira, António D., additional, and Velosa, José, additional

Published
2017
Full Text
View/download PDF

22. Transmural Healing is Better than Mucosal Healing in Crohn's Disease

Author

Fernandes, Samuel, primary, Rodrigues, Rita Vale, additional, Bernardo, Sónia, additional, Cortez-Pinto, João, additional, Rosa, Isadora, additional, Correia, Luís, additional, Baldaia, Cilénia, additional, Moura-Santos, Paula, additional, Gonçalves, Ana R., additional, Valente, Ana, additional, da Silva, João Pereira, additional, Pereira, António Dias, additional, and Velosa, José, additional

Published
2017
Full Text
View/download PDF

28. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Author

Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD, Wang K, Timmers HTM, and Lyon GJ

Abstract

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity, and molecular modelling was performed for those variants falling within structurally characterized domains of TAF1. A novel phenotypic clustering approach was also applied, in which the phenotypes of affected individuals were classified using 51 standardized Human Phenotype Ontology (HPO) terms. Phenotypes associated with TAF1 variants show considerable pleiotropy and clinical variability, but prominent among previously unreported effects were brain morphological abnormalities, seizures, hearing loss, and heart malformations. Our allelic series broadens the phenotypic spectrum of TAF1/MRXS33 intellectual disability syndrome and the range of TAF1 molecular defects in humans. It also illustrates the challenges for determining the pathogenicity of inherited missense variants, particularly for genes mapping to chromosome X. This article is protected by copyright. All rights reserved., (This article is protected by copyright. All rights reserved.)

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results