3 documents found, page 1 of 1
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Az...
Rosa, Joana; Gaspar-Silva, Patrícia; Pacheco, Paula; Silva, Conceição; Branco, Cláudia C.; Vieira, Barbara S.; Carreiro, Alexandra; Gonçalves, JuanBackground: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations. Methods: We performed a retrospective cross-sectional study of CF patients from the island of São Mig...
A unique phenotype in a patient with a rare triplication of the 22q11.2 region ...
Vaz, Sara O.; Pires, Renato; Pires, Luís M.; Carreira, Isabel M.; Anjos, Rui; Maciel, Paula; Mota-Vieira, LuisaBackground: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abnormalities, thym...
Screening of copy number variants in the 22q11.2 region of congenital heart dis...
Pires, Renato; Pires, Luís M.; Vaz, Sara O.; Maciel, Paula; Anjos, Rui; Moniz, Raquel; Branco, Claudia C.; Cabral, Rita; Carreira, Isabel M.Background The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region. These structural variants were...