Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Inmaculada Rueda Arenas"'
Autor:
Marta Pacio‐Miguez, Manuel Parrón‐Pajares, Christopher T. Gordon, Fernando Santos‐Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F. Montaño, María Fernández, Mario Solís, Ángela del Pozo, Jeanne Amiel, Sixto García‐Miñaur, María Palomares‐Bralo
Publikováno v:
American Journal of Medical Genetics Part A. 188:2819-2824
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3acb808758b578b17f39fd98d2d207a
https://doi.org/10.1002/ajmg.a.62883
https://doi.org/10.1002/ajmg.a.62883
Autor:
Leila Cabral de Almeida Cardoso, Lara Rodriguez-Laguna, María Del Carmen Crespo, Elena Vallespín, María Palomares-Bralo, Rubén Martin-Arenas, Inmaculada Rueda-Arenas, Paulo Antonio Silvestre de Faria, GT-CSGP Working Group, Purificación García-Miguel, Pablo Lapunzina, Fernando Regla Vargas, Hector N Seuanez, Víctor Martínez-Glez
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0136812 (2015)
Wilms tumor (WT), the most common cancer of the kidney in infants and children, has a complex etiology that is still poorly understood. Identification of genomic copy number variants (CNV) in tumor genomes provides a better understanding of cancer de
Externí odkaz:
https://doaj.org/article/d5f78e64bad84958bd1dde6c74ae53c5
Autor:
Maria V. Gomez, Kristina Ibáñez, Fernando Santos-Simarro, Hector Gonzalez-Pecellin, Lara Rodriguez-Laguna, Ana Bustamante, Juan Carlos López-Gutiérrez, Cristina Villaverde, Elena Vallespín, Gema Gordo, Noelia Agra, Angela del Pozo, Pablo Lapunzina, Victor L. Ruiz-Perez, Julián Nevado, Victoria E. Fernandez-Montano, Sixto García-Miñaur, Carmen Ayuso, Rubén Martín-Arenas, Rocío Mena, Victor Martinez-Glez, Inmaculada Rueda-Arenas
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
[Purpose]: CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650b41c7c89879fd045c7aa85fa20ea0
https://doi.org/10.1101/154591
https://doi.org/10.1101/154591
Autor:
Samia A. Temtamy, Mona Aglan, José A. Caparrós-Martín, Victor L. Ruiz-Perez, Chantal Farra, María Valencia, Khalda Amr, Pablo Lapunzina, Veronica Pulido, Victor Martinez-Glez, Inmaculada Rueda-Arenas
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
et al.
Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations
Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c1b7daa871b2c4affa039bff5385ad
https://doi.org/10.1002/ajmg.a.35938
https://doi.org/10.1002/ajmg.a.35938
Autor:
Ghada A. Otaify, Samia A. Temtamy, Bruno Dallapiccola, Pleasantine Mill, Maria Cristina Digilio, Alessandro De Luca, Laura Vázquez, Victor L. Ruiz-Perez, José A. Caparrós-Martín, Karen E. Heath, Julián Nevado, Judith A. Goodship, Mennat I Mehrez, María Valencia, Pablo Lapunzina, François Cartault, Inmaculada Rueda-Arenas, Mona Aglan, Jean Luc Alessandri
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
instname
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
instname
et al.
Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encodin
Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encodin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d6af04777fec58ff35139539b7883e
http://hdl.handle.net/10261/125107
http://hdl.handle.net/10261/125107
Autor:
Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda0a94c6bcf36efa06bb9657b508d7
https://pubmed.ncbi.nlm.nih.gov/25853300
https://pubmed.ncbi.nlm.nih.gov/25853300