5 documents found, page 1 of 1
Identification of novel genetic causes of Rett syndrome-like phenotypes
Lopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela; Sá, Joaquim de; Dias, Ana Isabel; Oliveira, GuiomarBackground The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach. Methods and results We studied a cohort of 19 Portuguese patients (16 girls, 3 boys) with a clinical presentation significantly overlapping Rett syndrome (RTT). Genetic analysis included filtering of the single nucleotide variants and ind...
Recurrent copy number variations as risk factors for neurodevelopmental disorde...
Torres, Fátima; Barbosa, Mafalda Fernanda Cabral Santos; Maciel, P.Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, in...
Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leadi...
Vieira, José Pedro; Lopes, Fátima Daniela Teixeira; Fernandes, Anabela Silva; Sousa, Maria Vânia; Moura, Sofia; Sousa, Susana; Costa, Bruno M.Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome -46,X,inv(X)(p22.1q28), with breakpoints in the cytobands where the MECP2 and CDKL5 genes are located. FISH analysis revealed that the MECP2 gene is not dislocated ...
Clinical, biochemical and molecular characterization of cystinuria in a cohort ...
Barbosa, Mafalda Fernanda Cabral Santos; Lopes, A.; Mota, C.; Martins, E.; Oliveira, J.; Alves, S.; Bonis, P. de; Mota, M. do Céu; Dias, C.Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal...
Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the P...
Barbosa, Mafalda Fernanda Cabral Santos; Henrique, Martinha; Pinto-Basto, Jorge; Claes, Kathleen; Soares, Gabriela(undefined)