Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Isabel Llano Rivas"'
Autor:
Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Since the advent of new generation sequencing, professionals are aware of the possibility of obtaining findings unrelated to the pathology under study. However, this possibility is usually forgotten in the case of studies aimed at a sin
Externí odkaz:
https://doaj.org/article/6d6d6e263f2c43be969b0f09df225b77
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:
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SR
Externí odkaz:
https://doaj.org/article/250a2e1e493d4eebb1acf7c8e58d9c14
Autor:
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
Autor:
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
SUMMARYBackgroundKBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involving ANKRD11 hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772e2630b0edef5f7aa24d37fceea547
https://doi.org/10.1101/2022.04.11.22271283
https://doi.org/10.1101/2022.04.11.22271283
Publikováno v:
Frontiers in pediatrics. 10
Sotos 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 (Genomic DNA was extracted f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::446169e4cb773d81bf5509f7b4b1041c
https://pubmed.ncbi.nlm.nih.gov/35186810
https://pubmed.ncbi.nlm.nih.gov/35186810
Publikováno v:
Journal of clinical lipidology. 16(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a20a947061acc0583c13daf5017f243e
https://pubmed.ncbi.nlm.nih.gov/34852964
https://pubmed.ncbi.nlm.nih.gov/34852964
Publikováno v:
Piel. 37:59-60
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1031a91e87d857063c6878b7cb24f1da
https://doi.org/10.1016/j.piel.2021.02.008
https://doi.org/10.1016/j.piel.2021.02.008
Autor:
Nerea Gorria-Redondo, Arrate Pereda, Isabel Llano-Rivas, Guiomar Perez de Nanclares, Ignacio Díez, Yerai Vado
Publikováno v:
Genes, Vol 11, Iss 1461, p 1461 (2020)
Genes
Genes
Silver–Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd42f95ee21a2a8168e635f78bcdf3ac
https://www.mdpi.com/2073-4425/11/12/1461
https://www.mdpi.com/2073-4425/11/12/1461
Autor:
Laura Lorente-Grandoso, Gloria Fraga, Andrea Domingo-Gallego, Roser Torra, Juan Alberto Piñero-Fernández, Elisabet Ars, Isabel Llano-Rivas, Raquel Sáez, Gemma Bullich, Gema Ariceta, Lidia Rodríguez-Peña, Mónica Furlano, Mercedes González, Marc Pybus, Guirado Lluis, Laia Ejarque-Vila, Anna Bujons-Tur, Patricia Ruiz
Publikováno v:
NEPHROLOGY DIALYSIS TRANSPLANTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Background Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early-onset CKD is complicated due to the high phenotypic overlap, but genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0235ec4a1281a31aea374f8ab9eb117e
https://pubmed.ncbi.nlm.nih.gov/33532864
https://pubmed.ncbi.nlm.nih.gov/33532864