Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
31
TITLE: MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes
AUTHORS: Malaquias, MJ; Martins, RC; Oliveira, J; Freixo, JP; Magalhaes, M;
PUBLISHED: 2020, SOURCE: CLINICAL GENETICS, VOLUME: 98, ISSUE: 5
AUTHORS: Malaquias, MJ; Martins, RC; Oliveira, J; Freixo, JP; Magalhaes, M;
PUBLISHED: 2020, SOURCE: CLINICAL GENETICS, VOLUME: 98, ISSUE: 5
32
TITLE: Correction to: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 (Neurological Sciences, (2020), 10.1007/s10072-020-04895-4) Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P; Coelho, CR; Damásio, J; Vila Chã, N; Magalhães, M;
PUBLISHED: 2020, SOURCE: Neurological Sciences
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P; Coelho, CR; Damásio, J; Vila Chã, N; Magalhães, M;
PUBLISHED: 2020, SOURCE: Neurological Sciences
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID33
TITLE: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 (November, 10.1007/s10072-020-04895-4, 2020) Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2020, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2020, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
34
TITLE: alpha IIb beta 3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum Full Text
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12
35
TITLE: Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Lau, C; Martin Izquierdo, M; Couto, E; Ruiz Pividal, JF; Vicente, V; ...More
PUBLISHED: 2019, SOURCE: ANNALS OF MEDICINE, VOLUME: 51, ISSUE: 2
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Lau, C; Martin Izquierdo, M; Couto, E; Ruiz Pividal, JF; Vicente, V; ...More
PUBLISHED: 2019, SOURCE: ANNALS OF MEDICINE, VOLUME: 51, ISSUE: 2
36
TITLE: Identifying novel genetic causes for hereditary myopathies: from conventional approaches to next-generation sequencing
AUTHORS: Jorge M d S M de Oliveira;
PUBLISHED: 2019
AUTHORS: Jorge M d S M de Oliveira;
PUBLISHED: 2019
INDEXED IN: 
Handle
Handle37
TITLE: Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Hortal, A; Garcia, VV; Hernandez Rivas, JM; Lozano, ML; Gonzalez Porras, JR; ...More
PUBLISHED: 2018, SOURCE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, ISSUE: Supplement 1
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Hortal, A; Garcia, VV; Hernandez Rivas, JM; Lozano, ML; Gonzalez Porras, JR; ...More
PUBLISHED: 2018, SOURCE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, ISSUE: Supplement 1
38
TITLE: Epididymal metastasis from prostate adenocarcinoma: An unusual and challenging diagnosis suspected in gallium-68 prostate-specific membrane antigen-positron emission tomography/computed tomography and histologically confirmed Full Text
AUTHORS: Sofia Santos Lopes; Joao Lobo; Rui Henrique ; Jorge Oliveira;
PUBLISHED: 2017, SOURCE: UROLOGY ANNALS, VOLUME: 9, ISSUE: 1
AUTHORS: Sofia Santos Lopes; Joao Lobo; Rui Henrique ; Jorge Oliveira;
PUBLISHED: 2017, SOURCE: UROLOGY ANNALS, VOLUME: 9, ISSUE: 1
39
TITLE: MicroRNA promoter methylation: a new tool for accurate detection of urothelial carcinoma Full Text
AUTHORS: Nuno Andre Padrao; Sara Monteiro Reis; Jorge Torres Ferreira; Luis Antunes; Luis Leca; Diana Montezuma; Joao Ramalho Carvalho; Paula C Dias; Paula Monteiro; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2017, SOURCE: BRITISH JOURNAL OF CANCER, VOLUME: 116, ISSUE: 5
AUTHORS: Nuno Andre Padrao; Sara Monteiro Reis; Jorge Torres Ferreira; Luis Antunes; Luis Leca; Diana Montezuma; Joao Ramalho Carvalho; Paula C Dias; Paula Monteiro; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2017, SOURCE: BRITISH JOURNAL OF CANCER, VOLUME: 116, ISSUE: 5
40
TITLE: Exonization of an intronic LINE-1 element causing becker muscular dystrophy as a novel mutational mechanism in dystrophin gene Full Text
AUTHORS: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: Genes, VOLUME: 8, ISSUE: 10
AUTHORS: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: Genes, VOLUME: 8, ISSUE: 10
