4 documents found, page 1 of 1
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
Quelhas, D; Martins, E; Azevedo, L; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonça, CObjective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, a...
Clinical and Molecular Characterization of Diastrophic Dysplasia in the Portugu...
Barbosa, M; Sousa, AB; Medeira, A; Lourenço, T; Saraiva, J; Pinto-Basto, J; Soares, G; Fortuna, AM; Superti-Furga, A; Mittaz, L; Reis-Lima, M; Bonafé, LSLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related ...
Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Rela...
Santos, M; Temudo, T; Kay, T; Carrilho, I; Medeira, A; Cabral, H; Gomes, R; Lourenço, T; Venâncio, M; Calado, E; Moreira, A; Oliveira, G; Maciel, PRett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbation...
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorect...
Isidro, G; Laranjeira, F; Pires, A; Leite, J; Regateiro, FJ; Castro e Sousa, F; Soares, J; Castro, C; Giria, J; Brito, MJ; Medeira, A; Teixeira, RGerminal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH poly...