Encontrados 7 documentos, a visualizar página 1 de 1
Patologia do neurodesenvolvimento por anomalia cromossómica da região crítica d...
Gomes, Sofia; Almeida, Joana; Ferrão, José; Matoso, Eunice; Carreira, Isabel Maria; Oliveira, GuiomarIntrodução: As perturbações do neurodesenvolvimento representam um grupo heterogéneo de doenças crónicas muito frequentes que se iniciam na idade pediátrica. As causas são variadas e numa taxa relevante de casos o diagnóstico etiológico é desconhecido. Nos outros, os rearranjos cromossómicos são as anomalias mais frequentemente identificadas. A região proximal do braço longo do cromossoma 15 (q11-q13), pela sua...
The Clinical Laboratory Genetics profession in Portugal
Ramos, Lina; Jorge, Paula; Marques, Bárbara; Avila, Madalena; Rendeiro, Paula; Quelhas, Maria Dulce; Melo, Joana B.; Marques Carreira, IsabelAbstrat publicado em: European Journal of Human Genetics. 2003;21(Suppl 2):413
Identification of a 0.4 Kb deletion region in 10q26 associated with endometrial...
Alves, Margarida; Carreira, Isabel; Liberato, Paulo; Ramos, Sância; Mafra, Manuela; Inverno, Alexandra S.; Maia, Ana T.; Martins, Ana PaulaWe have identified an allelic deletion common region in the q26 region of chromosome 10 in endometrial carcinomas, which has been reported previously as a potential target of genetic alterations related to this neoplasia. An allelotyping analysis of 19 pairs of tumoral and non-tumoral samples was accomplished using seven microsatellite polymorphic markers mapping in the 10q26 chromosomal region. Loss of heteroz...
Analytical Approaches toward Successful Human Cell Metabolome Studies by NMR Sp...
Duarte, Iola F.; Marques, Joana; Ladeirinha, Ana F.; Rocha, Cláudia; Lamego, Inês; Calheiros, Rita; Silva, Tânia M.; Marques, M. Paula M.The aim of this work was to investigate the effects of cell handling and storage on cell integrity and 1H high resolution magic angle spinning (HRMAS) NMR spectra. Three different cell types have been considered (lung tumoral, amniocytes, and MG-63 osteosarcoma cells) in order for sample-dependent effects to be identified. Cell integrity of fresh cells and cells frozen in cryopreservative solution was 70−80%, w...
Tetra-amelia and lung hypo/aplasia syndrome: New case report and review
Sousa, Sérgio B.; Pina, Raquel; Ramos, Lina; Pereira, Naigel; Krahn, Martin; Borozdin, Wiktor; Kohlhase, Jürgen; Amorim, Marta; Gonnet, KatiaTetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon mo...
Metabolite Profiling of Human Amniotic Fluid by Hyphenated Nuclear Magnetic Res...
Graça, Gonçalo; Duarte, Iola F.; Goodfellow, Brian J.; Carreira, Isabel M.; Couceiro, Ana Bela; Domingues, Maria do Rosário; Spraul, ManfredThe metabolic profiling of human amniotic fluid (HAF) is of potential interest for the diagnosis of disorders in the mother or the fetus. In order to build a comprehensive metabolite database for HAF, hyphenated NMR has been used, for the first time, for systematic HAF profiling. Experiments were carried out using reverse-phase (RP) and ion-exchange liquid chromatography (LC), in order to detect less and more p...
Partial Tetrasomy of Chromosome 3q and Mosaicism in a Child with Autism
Oliveira, Guiomar; Matoso, Eunice; Vicente, Astrid; Ribeiro, Patricia; Marques, Carla; Ataíde, Assunção; Miguel, Teresa; Saraiva, JorgeIn this report we describe the case of an 11-year-old male with autism and mental retardation, presenting a tetrasomy of chromosome 3q. Cytogenetic analysis showed a mosaic for an unbalanced karyotype consisting of mos46,XY,add(12)(p13.3)(56)/46,XY(45). FISH using WCP and subtelomeric probes identified the extra material on 12p to be an inverted duplication of the distal segment of chromosome 3q. Anomalies in c...
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