6 documents found, page 1 of 1
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and C...
Maia, N; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Celia A; Prior, Catarina; Tkachenko, Nataliya; Santos, RosárioWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance...
Development and Validation of a Mathematical Model to Predict the Complexity of...
Rodrigues, Bárbara; Vale-Fernandes, Emídio; Maia, N; Santos, Flávia; Marques, Isabel; Santos, Rosário; Nogueira, António J. A.; Jorge, PaulaThe polymorphic trinucleotide repetitive region in the FMR1 gene 5'UTR contains AGG interspersions, particularly in normal-sized alleles (CGG < 45). In this range repetitive stretches are typically interrupted once or twice, although alleles without or with three or more AGG interspersions can also be observed. AGG interspersions together with the total length of the repetitive region confer stability and hinde...
Usher syndrome and Nebulin‐associated myopathy in a single patient due to varia...
Maia, N; Soares, Ana Rita; Fortuna, Ana; Marques, Isabel; Gonçalves, Ana; Santos, Rosário; Pires, Manuel; De Brouwer, Arjan; Jorge, PaulaIn a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in ...
Maia, N; Soares, Gabriela; Silva, Cecília; Marques, Isabel; Rodrigues, Bárbara; Santos, Rosário; Melo-Pires, Manuel; de Brouwer, Arjan PMAutosomal Recessive Spinocerebellar Ataxia 20, SCAR20, is a rare condition characterized by intellectual disability, lack of speech, ataxia, coarse facies and macrocephaly, caused by SNX14 variants. While all cases described are due to homozygous variants that generally result in loss of protein, so far there are no other cases of reported compound heterozygous variants. Here we describe the first non-consangui...
Contraction of fully expanded FMR1 alleles to the normal range: predisposing ha...
Maia, N; Loureiro, JR; Oliveira, B; Marques, I; Santos, R; Jorge, P; Martins, SFragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). We have identified four FXS mosaic males: M1-(CGG)35/(CGG)>200; M2-(CGG)26/(CGG)>200; M3-(CGG)39/(CGG)>200; and M4-(CGG)18/(CGG)125/(CGG)>200. After genotyping their respective mothers, we sug...
Traumatologia renal nos HUC: experiência de treze anos
Nunes, P; Maia, N; Parada, B; Rolo, F; Mota, AOs autores fazem uma revisão da casuística de traumatologia renal da sua instituição. Analisam-se 152 traumatismos renais ocorridos em 13 anos avaliando-se a classificação, mecanismo causal, etiologia, sintomatologia, estudo imagiológico, lesões associadas, tratamento, complicações e evolução.