Francisco Eduardo da Rocha Laranjeira


AuthID: R-00K-FKB

Confirmed Publications: 18



11
TITLE: Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
AUTHORS: Coutinho, MF; Encarnacao, M; Laranjeira, F ; Lacerda, L; Prata, MJ ; Alves, S;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 3 Handle
IN MY: ORCID
12
TITLE: Data insupport of a functional analysis of splicing mutations in the <i>IDS</i> gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II
AUTHORS: Matos, L; Gonçalves, V; Pinto, E; Laranjeira, F ; Prata, MJ ; Jordan, P; Desviat, LR; Pérez, B; Alves, S;
PUBLISHED: 2015, SOURCE: DATA IN BRIEF, VOLUME: 5
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
13
TITLE: Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II  Full Text
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID | CIÊNCIAVITAE
14
TITLE: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations  Full Text
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F ; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; Miller, N; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 112, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
15
TITLE: Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.  Full Text
AUTHORS: Glória Isidro; Francisco Laranjeira ; Ana Pires; Júlio Leite; Fernando Regateiro; Castro e Sousa F.; José Soares; Clara Castro; João Giria; Maria J Brito; Ana Medeira; Ricardo Teixeira; Henrique Morna; Isabel Gaspar; Carla Marinho; Rosa Jorge; António Brehm; Silva S Ramos; Maria Guida Boavida;
PUBLISHED: 2004, SOURCE: Human mutation, VOLUME: 24, ISSUE: 4
INDEXED IN: Scopus CrossRef: 65
IN MY: ORCID
16
TITLE: HLA-B27 in patients with a permanent pacemaker
AUTHORS: Bruges Armas, J ; Lima, C; Lopes, DS; Schneider, V; Lopes, JPP; Gomes, AF; Gil, JGC; Barreiros, MJ; Peixoto, MJ; Garrett, F; Laranjeira, F ; Couto, AR ; O'Neill, TW; Herrero Beaumont, G;
PUBLISHED: 2003, SOURCE: ANNALS OF THE RHEUMATIC DISEASES, VOLUME: 62, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores  Full Text
AUTHORS: Couto, AR ; Peixoto, MJ; Garrett, F; Laranjeira, F ; Cipriano, T; Armas, JB ;
PUBLISHED: 2003, SOURCE: HUMAN IMMUNOLOGY, VOLUME: 64, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
18
TITLE: Susceptibility to ankylosing spondylitis is independent of the Bw4 and Bw6 epitopes of HLA-B27 alleles  Full Text
AUTHORS: Armas, JB ; Gonzalez, S; Martinez Borra, J; Laranjeira, F ; Ribeiro, E; Correia, J; Ferreira, ML; Toste, M; Lopez Vazquez, A; Lopez Larrea, C;
PUBLISHED: 1999, SOURCE: TISSUE ANTIGENS, VOLUME: 53, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
Page 2 of 2. Total results: 18.

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