Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Nuno, Maia"'
Autor:
Nuno Maia Neves, Ana Pestana Lopes, Susana Carvalho Coelho, Anabela Raimundo, Maria Manuela Mafra, Alexandra Bayão Horta
Publikováno v:
European Journal of Case Reports in Internal Medicine (2023)
Primary splenic lymphoma (PSL) is a rare disease and an improbable cause of splenomegaly or splenic nodules. On the contrary, splenic secondary involvement as part of an advanced lymphoproliferative disorder is more common. The authors present the ca
Externí odkaz:
https://doaj.org/article/c41443a3ea7646338e1072060c8c5035
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:
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
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:
Cureus.
Autor:
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
Publikováno v:
American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Genotype; Intellectual disability; Phenotype Genotipo; Discapacidad intelectual; Fenotipo Genotip; Discapacitat intel·lectual; Fenotip We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226
Autor:
Filipa Duarte, Osvaldo Correia, João Nuno Maia e Silva, Cecília Moura, Ricardo Vieira, António Picoto
Publikováno v:
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 75, Iss 4 (2018)
Introdução: A incidência dos cancros da pele tem vindo a aumentar nos últimos anos em todo o mundo. O alerta das populações para a prevenção primária, promovendo o conhecimento sobre factores de risco e incentivando melhores comportamentos d
Externí odkaz:
https://doaj.org/article/92d98585ccac4eea8d9cd4fdd391c5bf