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Pedro Louro
AuthID:
R-00K-SPD
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (8)
Abstract (8)
Article in Press (1)
Review (1)
Correction (1)
Year Start - End:
2015
2016
2017
2018
2019
2020
2021
2022
2023
2024
-
2024
2023
2022
2021
2020
2019
2018
2017
2016
2015
Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
20
30
40
50
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
IN MY:
ORCID
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:
Melo, US; Schopflin, R; Acuna Hidalgo, R; Mensah, MA; Fischer Zirnsak, B; Holtgrewe, M; Klever, MK; Turkmen, S; Heinrich, V; Pluym, ID; Matoso, E; de Sousa, SB;
Louro, P
; Hulsemann, W; Cohen, M; Dufke, A; Latos Bielenska, A; Vingron, M; Kalscheuer, V; Quintero Rivera, F;
Spielmann, M;
Mundlos, S;
...More
PUBLISHED:
2020
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
106,
ISSUE:
6
INDEXED IN:
Scopus
WOS
CrossRef
:
90
IN MY:
ORCID
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
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