Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Elena Vallespín"'
Autor:
Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, Marta Guerrero-Carretero, Ángela del Pozo, Victoria E. F. Montaño, Fernando Santos-Simarro, Emi Rikeros-Orozco, Luna Delgado-Mora, Elena Vallespín, Susana Noval
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 1, Pp 465-478 (2023)
A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families. Ele
Externí odkaz:
https://doaj.org/article/06c0461c3cf14cbaa18b8f4345a23a21
Autor:
Eloísa Sánchez-Cazorla, Carmen González-Atienza, Ana López-Vázquez, Natalia Arruti, María Nieves-Moreno, Susana Noval, Rocío Mena, Carmen Rodríguez-Jiménez, Patricia Rodríguez-Solana, Eva González-Iglesias, Marta Guerrero-Carretero, Oriana D’Anna Mardero, Javier Coca-Robinot, Juan Carlos Acal, Joana Blasco, Carlos Castañeda, Jesús Fraile Maya, Ángela Del Pozo, María V. Gómez-Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Carlos Rodríguez-Antolín, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Elena Vallespín
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 21, p 15676 (2023)
High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds –6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high
Externí odkaz:
https://doaj.org/article/1ad9657f955a4f74b9d6e21b136eb219
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
Autor:
Patricia Rodríguez-Solana, Natalia Arruti, María Nieves-Moreno, Rocío Mena, Carmen Rodríguez-Jiménez, Marta Guerrero-Carretero, Juan Carlos Acal, Joana Blasco, Jesús M. Peralta, Ángela Del Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Celia Fernández-Alcalde, Carmen González-Atienza, Eloísa Sánchez-Cazorla, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Susana Noval, Elena Vallespín
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11429 (2023)
Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in ch
Externí odkaz:
https://doaj.org/article/0f5b167e93394fbca7496fda8af9de17
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57
Autor:
Eva Fernández-Gutiérrez, Pedro Fernández-Pérez, Ana Boto-De-Los-Bueis, Laura García-Fernández, Patricia Rodríguez-Solana, Mario Solís, Elena Vallespín
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 1, p 209 (2022)
Posterior polymorphous corneal dystrophy (PPCD), a rare, bilateral, autosomal-dominant, inherited corneal dystrophy, affects the Descemet membrane and corneal endothelium. We describe an unusual presentation of PPCD associated with a previously unkno
Externí odkaz:
https://doaj.org/article/45ad95a439ca43f7b904e127cc017cc7
Autor:
Eva Gálvez, Elena Vallespín, Elena G. Arias-Salgado, Carmen Sánchez-Valdepeñas, Yari Giménez, Susana Navarro, Paula Río, Massimo Bogliolo, Roser Pujol, Montserrat Peiró, Julián Nevado, Josune Zubicaray, Elena Sebastián, Albert Catalá, Cristina Beléndez, Cristina Díaz de Heredia, Ana Galera, Isabel Badell, Luis Madero, Rosario Perona, Leandro Sastre, Jordi Surrallés, Juan Bueren, Pablo Lapunzina, Julián Sevilla
Publikováno v:
HemaSphere, Vol 5, Iss 4, p e539 (2021)
Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment and cancer surveillan
Externí odkaz:
https://doaj.org/article/7171cad4d97c4e6b9d227d6066cf270c
Autor:
Eva González-Iglesias, Ana López-Vázquez, Susana Noval, María Nieves-Moreno, María Granados-Fernández, Natalia Arruti, Irene Rosa-Pérez, Marta Pacio-Míguez, Victoria E. F. Montaño, Patricia Rodríguez-Solana, Angela del Pozo, Fernando Santos-Simarro, Elena Vallespín
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4233 (2022)
Early-onset high myopia (EoHM) is a disease that causes a spherical refraction error of ≥−6 diopters before 10 years of age, with potential multiple ocular complications. In this article, we report a clinical and genetic study of 43 families with
Externí odkaz:
https://doaj.org/article/ecc2b3ab61bd4baa883e3a816f5ec27e
Autor:
Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 52-55 (2017)
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation S
Externí odkaz:
https://doaj.org/article/42b7d79a56724aa28834d2e0366ea0f1
Autor:
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0172363 (2017)
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements,
Externí odkaz:
https://doaj.org/article/b119cafd3da346d182c782bf4ee6023c
Autor:
Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum
Externí odkaz:
https://doaj.org/article/6101bc0de0dd4288ba9efef3ffc10c8e