Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Paula Jorge"'
Autor:
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge
Publikováno v:
Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-7 (2024)
Abstract Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carrie
Externí odkaz:
https://doaj.org/article/3377385c90104102a02fb3c4967bb34b
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-17 (2021)
Abstract Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establis
Externí odkaz:
https://doaj.org/article/0a4d4fd750a641f78178fc03356d28d2
Autor:
Cecília Silva, Nuno Maia, Flávia Santos, Bárbara Rodrigues, Isabel Marques, Rosário Santos, Paula Jorge
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Abstract Over 100 X-linked intellectual disability genes have been identified, with triplet repeat expansions at the FMR1 (FRAXA) and AFF2 (FRAXE) genes being the causative agent in two of them. The absence of FRAXE pathognomonic features hampers ear
Externí odkaz:
https://doaj.org/article/5a452c4bee714738bbc9f8c6b99a4bca
Autor:
Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 2476-2482 (2020)
Abstract In 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
Externí odkaz:
https://doaj.org/article/f75c94edd07a4f6a98db04deb6d7e5fe
Autor:
Paula Salgado, Rui Carvalho, Ana Filipa Brandão, Paula Jorge, Cristina Ramos, Daniel Dias, Isabel Alonso, Marina Magalhães
Publikováno v:
eNeurologicalSci, Vol 14, Iss , Pp 9-12 (2019)
Background: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in PNPLA6 gene. Aims of the study: Describe one Portuguese family with GHS due to compound he
Externí odkaz:
https://doaj.org/article/9cdaf573057c44aa8bcf3036636cbc03
Autor:
Bárbara Rodrigues, Emídio Vale-Fernandes, Nuno Maia, Flávia Santos, Isabel Marques, Rosário Santos, António J. A. Nogueira, Paula Jorge
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
The 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 withou
Externí odkaz:
https://doaj.org/article/a168ece48d8345b8a75851c83f408b75
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 10 (2020)
Modern medicine is currently facing huge setbacks concerning infection therapeutics as microorganisms are consistently knocking down every antimicrobial wall set before them. The situation becomes more worrying when taking into account that, in both
Externí odkaz:
https://doaj.org/article/36fc64a63c80456ea38dcbb76ee922b8
Autor:
Nuno Maia, Gabriela Soares, Cecília Silva, Isabel Marques, Bárbara Rodrigues, Rosário Santos, Manuel Melo-Pires, Arjan PM de Brouwer, Teresa Temudo, Paula Jorge
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Autosomal 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 var
Externí odkaz:
https://doaj.org/article/7dcc05e669a64345b8af9e5218a42811
Autor:
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importanc
Externí odkaz:
https://doaj.org/article/3cdab0b3122447c0befa5760c7536697
Publikováno v:
Life, Vol 11, Iss 11, p 1138 (2021)
Gene therapy and DNA vaccination are among the most expected biotechnological and medical advances for the coming years. However, the lack of cost-effective large-scale production and purification of pharmaceutical-grade plasmid DNA (pDNA) still hamp
Externí odkaz:
https://doaj.org/article/3933f99fe1864318b7a9707462897032