Olaya Villa

发表

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

L. Armengol, L. Pérez-Jurado, P. Lapunzina, 2011, Human Genetics.

De novo duplication and deletions at 7q in a three‐generation family

L. Pérez-Jurado, C. Le Caignec, B. Isidor, 2012, American journal of medical genetics. Part A.

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.

L. Arenillas, F. Solé, M. Salido, 2011, Leukemia research.

Detection of abnormalities of PRV-1, TPO, and c-MPL genes detected by fluorescence in situ hybridization in essential thrombocythemia.

S. Serrano, F. Solé, B. Espinet, 2006, Cancer genetics and cytogenetics.

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

F. Solé, M. Salido, B. Gener, 2007, American journal of medical genetics. Part A.

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

M. Del Campo, A. Plaja, E. Lloveras, 2015, Cytogenetic and Genome Research.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

L. Armengol, B. Puisac, M. Teresa-Rodrigo, 2014, European journal of medical genetics.

Insertion (8;11) in a renal oncocytoma with multifocal transformation to chromophobe renal cell carcinoma.

S. Serrano, J. Lloreta, F. Solé, 2005, Cancer genetics and cytogenetics.

Short communication Insertion (8;11) in a renal oncocytoma with multifocal transformation to chromophobe renal cell carcinoma

S. Serrano, J. Lloreta, M. Salido, 2005 .

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

B. Gener, M. Vilardell, B. Rodríguez-Santiago, 2009, Human molecular genetics.

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

L. Armengol, L. Pérez-Jurado, P. Lapunzina, 2011, Human Genetics.

Detectable clonal mosaicism and its relationship to aging and cancer

William Wheeler, Nan Hu, Peter Kraft, 2012, Nature Genetics.

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.

A. Valencia, L. Armengol, N. Malats, 2010, American journal of human genetics.

MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

J. González, L. Armengol, Olaya Villa, 2021, Scientific Reports.

Blast cells with nuclear extrusions in the form of micronuclei are associated with MYC amplification in acute myeloid leukemia.

L. Arenillas, S. Serrano, F. Solé, 2008, Cancer genetics and cytogenetics.

Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region

V. Cirigliano, N. Maiz, A. Plaja, 2016, Cytogenetic and Genome Research.

Direct tandem duplication in chromosome 19q characterized by array CGH.

P. Lapunzina, Olaya Villa, L. Fernández, 2008, European journal of medical genetics.

Complex chromosome 8;21 translocation with associated hyperdiploidy in acute myeloid leukemia (FAB‐M2)

F. Solé, J. Rossi, Olaya Villa, 2008, Pediatric blood & cancer.

Methotrexate resistance in vitro is achieved by a dynamic selectionprocess of tumor cell variants emerging during treatment

S. Serrano, F. Real, F. Solé, 2006, International journal of cancer.

Euchromatic variant 16p+. Implications in prenatal diagnosis

M. Salido, P. Lapunzina, I. L. Pajares, 2006, Prenatal diagnosis.