Publications by authors named "Olaya Villa"

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Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
María I Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs

Sci Rep· April 2021

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MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
María I Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs

Sci Rep· January 2021

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Olaya Villa

Am J Hum Genet· December 2017

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Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.
Laura Barranco, Marta Costa, Elisabet Lloveras, Elena Ordóñez, Nerea Maiz, Olaya Villa

Cytogenet Genome Res· February 2017

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Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
Elisabet Lloveras, Teresa Vendrell, Asunción Fernández, Neus Castells, Ana Cueto, Olaya Villa

Cytogenet Genome Res· June 2015

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Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, María Hernández-Marcos, María-Esperanza Teresa-Rodrigo, Alicia Vicente-Gabas, Olaya Villa

Eur J Med Genet· September 2014

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De novo duplication and deletions at 7q in a three-generation family.
Bertrand Isidor, Olaya Villa, Olivier Pichon, Annaig Briand, Damien Poulain

Am J Med Genet A· June 2012

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Detectable clonal mosaicism and its relationship to aging and cancer.
Kevin B Jacobs, Meredith Yeager, Weiyin Zhou, Sholom Wacholder, Zhaoming Wang, Olaya Villa

Nat Genet· May 2012

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Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Lluís Armengol, Julián Nevado, Clara Serra-Juhé, Alberto Plaja, Carmen Mediano, Olaya Villa

Hum Genet· March 2012

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Deletion of TET2 gene in an acute myeloid leukemia case with a t(4;15)(q24;q26) characterized by glass needle based chromosome microdissection and oligonucleotide array.
Olaya Villa, Mar Mallo, Nadezda Kosyakova, Marta Salido, Thomas Liehr

Leuk Res· September 2011

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Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
Benjamín Rodríguez-Santiago, Núria Malats, Nathaniel Rothman, Lluís Armengol, Montse Garcia-Closas, Olaya Villa

Am J Hum Genet· July 2010

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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Ivon Cuscó, Andrés Medrano, Blanca Gener, Mireia Vilardell, Fátima Gallastegui, Olaya Villa

Hum Mol Genet· May 2009

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Direct tandem duplication in chromosome 19q characterized by array CGH.
Maria Palomares Bralo, Alicia Delicado, Pablo Lapunzina, Ramón Velázquez Fragua, Olaya Villa

Eur J Med Genet· August 2008

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Blast cells with nuclear extrusions in the form of micronuclei are associated with MYC amplification in acute myeloid leukemia.
Olaya Villa, Marta Salido, María Encarnación Pérez-Vila, Ana Ferrer, Leonor Arenillas

Cancer Genet Cytogenet· August 2008

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Complex chromosome 8;21 translocation with associated hyperdiploidy in acute myeloid leukemia (FAB-M2).
María del Pilar Corral, Olaya Villa, Elizabeth M Alfaro, Cristina N Alonso, Cristina Baro

Pediatr Blood Cancer· March 2008

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Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.
Olaya Villa, Miguel Del Campo, Marta Salido, Blanca Gener, Laura Astier

Am J Med Genet A· May 2007

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Methotrexate resistance in vitro is achieved by a dynamic selectionprocess of tumor cell variants emerging during treatment.
Josep M de Anta, Clara Mayo, Francesc Solé, Marta Salido, Blanca Espinet, Olaya Villa

Int J Cancer· October 2006

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Detection of abnormalities of PRV-1, TPO, and c-MPL genes detected by fluorescence in situ hybridization in essential thrombocythemia.
Eulàlia Puigdecanet, Blanca Espinet, Olaya Villa, Lourdes Florensa, Carles Besses

Cancer Genet Cytogenet· May 2006

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Insertion (8;11) in a renal oncocytoma with multifocal transformation to chromophobe renal cell carcinoma.
Marta Salido, Josep Lloreta, Carme Melero, Mar García, José Placer, Olaya Villa

Cancer Genet Cytogenet· December 2005

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