Luís Miguel Lopes Marques Pires


AuthID: R-00G-WKT

Confirmed Publications: 8



1
TITLE: A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases  Full Text
AUTHORS: Sara O Vaz; Renato Pires; Luis M Pires ; Isabel M Carreira; Rui Anjos; Paula Maciel; Luisa Mota Vieira;
PUBLISHED: 2015, SOURCE: BMC PEDIATRICS, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
2
3
TITLE: Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
AUTHORS: Ana Beleza-Meireles; Rachel Hart; Jill Clayton-Smith; Renata Oliveira; Cláudia Falcão Reis; Margarida Venâncio; Fabiana Ramos; Joaquim Sá; Lina Ramos; Elizabete Cunha; Luís Miguel Pires ; Isabel Marques Carreira; Rachel Scholey; Ronnie Wright; Jill E Urquhart; Tracy A Briggs; Bronwyn Kerr; Helen Kingston; Kay Metcalfe; Dian Donnai; William G Newman; Jorge Manuel Saraiva; May Tassabehji; ...More
PUBLISHED: 2015, SOURCE: European Journal of Medical Genetics, VOLUME: 58, ISSUE: 9
INDEXED IN: CrossRef
IN MY: ORCID
4
5
TITLE: Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplication  Full Text
AUTHORS: Pires, R; Pires, LM ; Vaz, SO; Maciel, P; Anjos, R; Moniz, R; Branco, CC; Cabral, R; Carreira, IM; Mota Vieira, L;
PUBLISHED: 2014, SOURCE: BMC Genetics in BMC GENETICS, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
6
TITLE: Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event  Full Text
AUTHORS: Susana Isabel Ferreira; Luis Miguel Pires ; Jose Ferrao; Joaquim Sa; Armando Serra; Isabel Marques Carreira ;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 527, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
7
TITLE: Two new cases of de novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis  Full Text
AUTHORS: Jardim, A; Melo, JB ; Matoso, E; Pires, LM ; Ramos, L; Carreira, IM ;
PUBLISHED: 2007, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 27, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
8
TITLE: Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA  Full Text
AUTHORS: Santos, C; Lima, M ; Montiel, R; Angles, N; Pires, L ; Abade, A; Aluja, MP;
PUBLISHED: 2003, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 67, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 30
IN MY: ORCID

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