Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Nekane Ibarluzea"'
Autor:
Olatz Villate, Nekane Ibarluzea, Hiart Maortua, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2020)
There are four classes of CGG repeat alleles in the FMR1 gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200 repeats; those between 55 and 200 CGGs are considered FMR1 premutation alleles, because they are
Externí odkaz:
https://doaj.org/article/c95194a56d3c4910b4cbcc4712ce9efa
Autor:
Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, Andrés R. Ordóñez-Castillo, Olivia Busto-Crespo, Olatz Villate, María Asunción Ibiricu-Yanguas, María E. Yoldi-Petri, Iñaki García de Gurtubay, Guiomar Perez de Nanclares, Arrate Pereda, María Isabel Tejada
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment. A growing number of loci and g
Externí odkaz:
https://doaj.org/article/928125b5ba684bcfa70ca9f0a961ddad
Autor:
María Isabel Tejada, Olatz Villate, Nekane Ibarluzea, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Francisco Barros
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual disability is the only clinically consistent manifestation have been described. While link
Externí odkaz:
https://doaj.org/article/56ae2420d6cf4cb5acd371187b0309c5
Autor:
Jennifer Munkley, Teresa M. Maia, Nekane Ibarluzea, Karen E. Livermore, Daniel Vodak, Ingrid Ehrmann, Katherine James, Prabhakar Rajan, Nuno L. Barbosa-Morais, David J. Elliott
Publikováno v:
F1000Research, Vol 7 (2018)
Background: Androgen steroid hormones are key drivers of prostate cancer. Previous work has shown that androgens can drive the expression of alternative mRNA isoforms as well as transcriptional changes in prostate cancer cells. Yet to what extent and
Externí odkaz:
https://doaj.org/article/2bc77023a6054a83bbf4109346d9c6a2
Autor:
Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability relat
Externí odkaz:
https://doaj.org/article/874715fc58564df0a90263bad61671ec
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:
Nekane Ibarluzea, Maria-Isabel Tejada
Publikováno v:
Clinical Genetics. 97:677-687
Since the discovery of the FMR1 gene and the clinical and molecular characterization of Fragile X Syndrome in 1991, more than 141 genes have been identified in the X-chromosome in these 28 years thanks to applying continuously evolving molecular tech
Autor:
Olatz, Villate, Nekane, Ibarluzea, Eugenia, Fraile-Bethencourt, Alberto, Valenzuela, Eladio A, Velasco, Detelina, Grozeva, F L, Raymond, María P, Botella, María-Isabel, Tejada
Publikováno v:
Frontiers in Genetics
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability relat