Lista de obras -

12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.

artículo científico publicado en 2003

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

artículo científico publicado en 2015

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

artículo científico publicado en 2003

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

artículo científico publicado en 2010

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

artículo científico publicado en 2003

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

artículo científico publicado en 2003

Diagnostic genome profiling in mental retardation

artículo científico publicado en 2005

Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).

artículo científico publicado en 2002

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

artículo científico publicado en 2007

Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene

artículo científico publicado en 2006

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

artículo científico publicado en 2006

Homozygosity mapping in outbred families with mental retardation

artículo científico publicado en 2011

Identification of disease genes by whole genome CGH arrays

artículo científico publicado en 2005

Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization

artículo científico

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

artículo científico publicado en 2005

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints

artículo científico publicado en 2002

Next generation sequencing in synovial sarcoma reveals novel gene mutations

artículo científico publicado en 2015

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

artículo científico publicado en 2009

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

artículo científico publicado en 2012

Lista de obras de

12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

Diagnostic genome profiling in mental retardation

Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Homozygosity mapping in outbred families with mental retardation

Identification of disease genes by whole genome CGH arrays

Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints

Next generation sequencing in synovial sarcoma reveals novel gene mutations

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.