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Diogo Ribeiro
University of Porto
MutationGeneticsGenetic variationComputational biologyBiology
51Publications
4H-index
79Citations
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Publications 62
Newest
Last. Sandra AlvesH-Index: 2
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Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the “diagnostic odyssey”, which frequently afflicts affected families, the proband’s sample was simultaneously screened for mutations in a number of lysosomal function-related genes with targeted next-generation sequen...
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#1A.J. Duarte (University of the Algarve)
#2Diogo Ribeiro (Instituto Nacional de Saúde Dr. Ricardo Jorge)H-Index: 4
Last. O. Amaral (Instituto Nacional de Saúde Dr. Ricardo Jorge)H-Index: 5
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Abstract Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Mutations in glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, heterozygosity is a genetic risk factor for Parkinson's disease. This work describes the use of a non-integrative approach using Sendai Virus delivery to establish iPSCs from fibroblasts from a GD type 3 patient. Differentiation of induced Pluripotent Ste...
1 CitationsSource
#1Teresa Sá Marques (University of Porto)H-Index: 3
#2Miguel Saraiva (University of Porto)H-Index: 5
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ABSTRACTToday, major planning agendas in Europe steer the future of territorial organization towards an urban polycentric perspective. The accessibility to services of general interest (SGI), a sig...
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#1Teresa Sá MarquesH-Index: 2
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#1Luciana Moreira (University of Porto)H-Index: 3
#2A.J. Duarte (University of Porto)
Last. O. Amaral (University of Porto)H-Index: 5
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Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) were found as an immune adaptive mechanism in bacteria and quickly were applied to various fields as a promising tool for gene editing. Lysosomal storage diseases (LSDs) are a group of metabolic disorders caused by defects in lysosomal proteins leading to accumulation of undigested macromolecules within the cells. The lack of good in vitro models hinders research of the pathophysiologic mechanisms and the development of new thera...
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#2Teresa Sá MarquesH-Index: 2
Last. Diogo RibeiroH-Index: 4
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Refletir a descentralizacao e o desenvolvimento passa, invariavelmente, por analisar as atuais oportunidades de vida que os diferentes territorios proporcionam aos seus residentes. Proporcionar igualdade de oportunidade significa reduzir as atuais disparidades geograficas e sociais atraves de mecanismos de politica que garantam direitos iguais a todos os cidadaos, independentemente do local de residencia.Esta investigacao visa identificar as disparidades geograficas a nivel nacional tendo em vis...
#1Teresa Sá MarquesH-Index: 2
#2Miguel SaraivaH-Index: 5
Last. Ana AmanteH-Index: 1
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#2Paula GuerraH-Index: 1
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#1Teresa Sá MarquesH-Index: 2
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#2Teresa Sá MarquesH-Index: 2
Last. Diogo RibeiroH-Index: 4
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