Pedro Louro


AuthID: R-00K-SPD

Confirmed Publications: 19



1
TITLE: ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
AUTHORS: Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S.; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; Louro, Pedro ; Dias, Patricia; Neves, Mariana Tomasio; Sousa, Sergio B.; Weksberg, Rosanna;
PUBLISHED: 2022, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 32, ISSUE: 9
INDEXED IN: Scopus WOS
2
TITLE: KBG SYNDROME IN THE PORTUGUESE POPULATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF 41 PATIENTS  Full Text
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; Ramos, Lina; Soares, Ana Rita; Soares, Celia; Soares, Gabriela; Tkachenko, Nataliya; Amorim, Marta; Antunes, Diana; Freixo, Joao; Fortuna, Ana Maria; Reis, Claudia Falcao; Saraiva, Jorge; Sousa, Ana Berta; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
3
TITLE: Challenges and Considerations on Risk-Reducing Surgery in BRCA1/2 Patients with Advanced Breast Cancer  Full Text
AUTHORS: de Matos, LV; Fernandes, L; Louro, P ; Placido, A; Barros, M; Vaz, F;
PUBLISHED: 2021, SOURCE: CURRENT ONCOLOGY, VOLUME: 28, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
4
TITLE: Characteristics of a Portuguese cohort of Li-Fraumeni patients  Full Text
AUTHORS: Fernandes, S; Fragoso, S; Filipe, B; Santos, S; Opiniao, A; Clara, A; Bento, S; Luis, A; Miguel, I; Moura, C; Louro, P ; Vaz, F;
PUBLISHED: 2020, SOURCE: MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
5
TITLE: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
AUTHORS: Uira Souto Melo; Robert Schoepflin; Rocio Acuna Hidalgo; Martin Atta Mensah; Bjoern Fischer Zirnsak; Manuel Holtgrewe; Marius Konstantin Klever; Seval Tuerkmen; Verena Heinrich; Ilina Datkhaeva Pluym; Eunice Matoso; Sergio Bernardo de Sousa; Pedro Louro ; Wiebke Huelsemann; Monika Cohen; Andreas Dufke; Anna Latos Bielenska; Martin Vingron; Vera Kalscheuer; Fabiola Quintero Rivera; Malte Spielmann; Stefan Mundlos; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 106, ISSUE: 6
INDEXED IN: Scopus WOS
6
TITLE: Secondary findings identified in broad-scale sequencing in a Portuguese 915 patient cohort  Full Text
AUTHORS: Joana Rosmaninho Salgado; Sergio B Sousa; Rita Cerqueira; Maria Margarida Venancio; Joaquim Sa; Pedro Louro ; Sofia Maia; Ana Luisa Carvalho; Pedro Almeida; Jorge Pinto Basto; Jorge M Saraiva;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
7
TITLE: Uptake of preventive surgeries in a prospective cohort of BRCA1/2 healthy women
AUTHORS: Nejo, P; Bexiga, C; Fragoso, S; Mayer, A; Santos, S; Louro, P ; Luis, A; Moura, C; Clara, A; Vaz, F;
PUBLISHED: 2020, SOURCE: San Antonio Breast Cancer Symposium in CANCER RESEARCH, VOLUME: 80, ISSUE: 4
INDEXED IN: WOS CrossRef
IN MY: ORCID
8
TITLE: When BRCA2-breast cancer is more prevalent than BRCA1-breast cancer: Prospective follow-up data from a multidisciplinary program
AUTHORS: Bexiga, C; Nejo, P; Oliveira, I; Rodrigues, P; Pereira, P; Fragoso, S; Mayer, A; Parreira, J; Santos, S; Louro, P ; Luis, A; Bento, S; Miguel, I; Moura, C; Clara, A; Vaz, F;
PUBLISHED: 2020, SOURCE: San Antonio Breast Cancer Symposium in CANCER RESEARCH, VOLUME: 80, ISSUE: 4
INDEXED IN: WOS CrossRef: 1
IN MY: ORCID
9
TITLE: 16p11.2 microdeletion: The most common chromosomal anomaly associated with obesity  Full Text
AUTHORS: Joana Rosmaninho salgado; Luis Miguel Pires; Isabel M Carreira; Joana Barbosa Melo; Pedro Louro ; Joaquim Sa; Maria Margarida Venancio; Pedro Almeida; Sara Ribeiro; Jorge M Saraiva; Sergio B Sousa;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 49
INDEXED IN: WOS
10
TITLE: 16q22.1 microdeletion and anticipatory guidance  Full Text
AUTHORS: Abdullah, S; Helal, M; Dupuis, L; Stavropoulos, DJ; Louro, P ; Ramos, L; Mendoza Londono, R;
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 179, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
Page 1 of 2. Total results: 19.

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