Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Olatz, Villate"'
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
Autor:
Piedad Alba-Pavón, Lide Alaña, Miriam Gutierrez-Jimeno, Susana García-Obregón, Teresa Imízcoz, Elena Panizo, Paula González-Urdiales, Aizpea Echebarria-Barona, Ricardo Lopez Almaraz, Laura Zaldumbide, Itziar Astigarraga, Ana Patiño-García, Olatz Villate
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric cancers, sarcomas
Externí odkaz:
https://doaj.org/article/7606fb96c3924139bf9bc42a708d0fc4
Akademický článek
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Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundSotos syndrome is an autosomal dominant disorder characterized by overgrowth, macrocephaly, distinctive facial features and learning disabilities. Haploinsufficiency of the nuclear receptor SET domain-containing protein 1 (NSD1) gene locate
Externí odkaz:
https://doaj.org/article/dd57914c2f834927a94255085544a46e
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:
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:
Cristina, Epalza, Luis, Prieto-Tato, Rosa, Pino, Paula, Escartín-Paredes, Inés, Leoz, Carlos, Grasa, Ana, Vivanco-Allende, Jacques G, Rivière, Jaume, Carrasco-Colom, Olatz, Villate, Victoria, Fumadó, Concepción, Hermoso-Ibañez, Blanca, Herrero, David, Aguilera-Alonso, Alfredo, Tagarro, Cinta, Moraleda
Publikováno v:
Journal of the Pediatric Infectious Diseases Society. 11(10)
In this cohort of 42 adolescents with a previous multisystem inflammatory syndrome (MIS-C) diagnosis, 32 (76.2%) were vaccinated with COVID-19 vaccines, with a low incidence of relevant adverse events. More importantly, no new MIS-C or myocarditis oc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0218560be5432a65d240fc5aeadc8b7
https://pubmed.ncbi.nlm.nih.gov/35904132
https://pubmed.ncbi.nlm.nih.gov/35904132
Autor:
Lide Alaña, Caroline E. Nunes-Xavier, Laura Zaldumbide, Idoia Martin-Guerrero, Lorena Mosteiro, Piedad Alba-Pavón, Olatz Villate, Susana García-Obregón, Hermenegildo González-García, Raquel Herraiz, Itziar Astigarraga, Rafael Pulido, Miguel García-Ariza
Publikováno v:
Cancers
Cancers, Vol 14, Iss 421, p 421 (2022)
Addi. Archivo Digital para la Docencia y la Investigación
instname
Cancers; Volume 14; Issue 2; Pages: 421
Cancers, Vol 14, Iss 421, p 421 (2022)
Addi. Archivo Digital para la Docencia y la Investigación
instname
Cancers; Volume 14; Issue 2; Pages: 421
Simple Summary We have analyzed a panel of 88 pediatric medulloblastoma tumors for exon 3 mutations from the CTNNB1 gene and identified eight missense point-mutations and one in-frame deletion. We describe and functionally characterize a novel CTNNB1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76eb5d5665c4b54b1c2e3ca8c9add719
http://europepmc.org/articles/PMC8773623
http://europepmc.org/articles/PMC8773623