Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Pedro, Louro"'
Publikováno v:
Revista Portuguesa de Medicina Geral e Familiar, Vol 39, Iss 1 (2023)
Neste momento, Portugal está a implementar um projeto piloto para rastreio de casos de drepanocitose no âmbito do Programa Nacional de Rastreio Neonatal. Este projeto iniciou-se na região de Lisboa e Vale do Tejo onde reside, comparativamente com
Externí odkaz:
https://doaj.org/article/e06f2b8ab4f8434ebeb532057b4346e2
Autor:
Leonor Vasconcelos de Matos, Leonor Fernandes, Pedro Louro, Ana Plácido, Manuel Barros, Fátima Vaz
Publikováno v:
Current Oncology, Vol 28, Iss 1, Pp 485-490 (2021)
Cancer survivors harboring inherited pathogenic variants in the breast cancer (BC) susceptibility genes BRCA1 or BRCA2 are at increased risk of ovarian cancer (OC) and also of contralateral BC. For these women, risk-reducing surgery (RRS) may contrib
Externí odkaz:
https://doaj.org/article/3aaf2b6a1cf541a2bc86f8994bf5b568
Autor:
Pedro Louro, Susana Sá, João Pascoinho, Laurentino Guimarães, Eusébio Costa, Agostinho Sousa Pinto, Manuel Trigueiro da Rocha
Publikováno v:
Perspectives and Trends in Education and Technology ISBN: 9789811965845
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a52cc9918d0ea8c9d96de9afce301b0
https://doi.org/10.1007/978-981-19-6585-2_72
https://doi.org/10.1007/978-981-19-6585-2_72
Autor:
Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S Alkuraya, Stephen Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Tomásio Neves, Sérgio B Sousa, Rosanna Weksberg
Publikováno v:
Human molecular genetics.
Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a5e25c1a9314d82c2b3bf55319c04f
https://pubmed.ncbi.nlm.nih.gov/36440975
https://pubmed.ncbi.nlm.nih.gov/36440975
Autor:
Zoe, Valero-Ramon, Pedro, Louro, Luis, Irio, Ilias, Dimitriadis, Marinos, Poiitis, Theodoros, Toliopoulos, Paraskevas, Lagakis, Georgios, Petridis, Nikolaos, Papachristou, Francisco J, Núñez-Benjumea, Santiago, Hors-Fraile, Athena, Vakali, Anastasios, Gounaris, Dany, Shapiro, Juan-Carlos, Naranjo, Sofia, Levva, Antonis, Billis, Vicente, Traver, Panagiotis, Bamidis
Publikováno v:
Studies in health technology and informatics. 290
Within the most recent years, most of the cancer patients are older age, which implies the necessity to a better understanding of aging and cancer connection. This work presents the LifeChamps solution built on top of cutting-edge Big Data architectu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea08588a8ee8fa038a351171d3f2bb46
https://pubmed.ncbi.nlm.nih.gov/35673179
https://pubmed.ncbi.nlm.nih.gov/35673179
Autor:
Wiebke Hülsemann, Sérgio B. Sousa, Seval Türkmen, Pedro Louro, Vera M. Kalscheuer, Martin Vingron, Anna Latos-Bielenska, Marius-Konstantin Klever, Stefan Mundlos, Manuel Holtgrewe, Andreas Dufke, Björn Fischer-Zirnsak, Malte Spielmann, Fabiola Quintero-Rivera, Martin A. Mensah, Rocio Acuna-Hidalgo, Verena Heinrich, Eunice Matoso, Ilina D. Pluym, Uirá Souto Melo, Monika Cohen, Robert Schöpflin
Publikováno v:
Am J Hum Genet
American journal of human genetics, vol 106, iss 6
American journal of human genetics, vol 106, iss 6
Genome-wide analysis methods, such as array comparative genomic hybridization (CGH) and whole-genome sequencing (WGS), have greatly advanced the identification of structural variants (SVs) in the human genome. However, even with standard high-through
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4f6505d31271c4902a5868465e7a14
https://doi.org/10.1016/j.ajhg.2020.04.016
https://doi.org/10.1016/j.ajhg.2020.04.016
Autor:
Sofia Fernandes, Sofia Fragoso, Bruno Filipe, Sidonia Santos, Teresa Duarte, Sandra Bento, Beatriz Mira, Ana Luis, Isalia Miguel, Cecilia Moura, Jose Marques, Isabel Claro, Ines Carvalho, Pedro Louro, Joana Parreira, Paula Rodrigues, Fatima Vaz
Publikováno v:
Medical Research Archives. 10
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome. Germline pathogenic/likely pathogenic variants (P/LPVs) in the TP53 gene are the only known genetic cause of this entity. Due to the severe phenotype and controversy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b15988b1336f3a9e5665c300e9a1cb56
https://doi.org/10.18103/mra.v10i7.2846
https://doi.org/10.18103/mra.v10i7.2846
Autor:
Pedro Caldeira, Ana Correia, Daniel Ferraz, Nelson Santos, Nuno Gaibino, Rui Massena, Pedro Louro
Publikováno v:
Resuscitation. 175:S21-S22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cbcefd0989e9c884e17d7039549c55a4
https://doi.org/10.1016/s0300-9572(22)00402-6
https://doi.org/10.1016/s0300-9572(22)00402-6
Autor:
Fátima Vaz, Catarina Bexiga, Cecília Moura, J. Parreira, Pedro Louro, S. Bento, Patrícia Pereira, I.C. Oliveira, Priscila Nejo, Ana Clara, S. Santos, Paula Rodrigues, A. Luís, Alexandra Mayer, S. Fragoso, I. Miguel
Publikováno v:
Cancer Research. 80:P6-08
PURPOSERecent studies questioned the role of BRCA2 as a prognostic factor. Although differences between clinicopathological characteristics of BRCA1-breast cancer (BC) and BRCA2-BC have been described, long-term follow-up data related to prognosis an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b62ba8821b46675bac18cf3ee839a48c
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-17
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-17
Autor:
Priscila Nejo, S. Fragoso, Catarina Bexiga, Ana T. Luís, Ana Clara, Pedro Louro, Fátima Vaz, Conceição Souto Moura, S. Santos, Alexandra Mayer
Publikováno v:
Cancer Research. 80:P6-08
PURPOSE Previous studies referred to uptake of preventive surgeries (PS) in BRCA1/2 healthy carriers in ages older than recommended (35yrs). Since our population has a higher prevalence of BRCA2 mutations (usually associated with an older age at Brea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1c99dd39ebcc7ff17a275bfa47897a3
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-36
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-36