Lista de obras -

A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1).

artículo científico publicado en 2006

A novel FISH assay for SS18-SSX fusion type in synovial sarcoma

artículo científico publicado en 2004

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

artículo científico publicado en 2015

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6 ⬇️

artículo científico publicado el 11 de febrero de 2013

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

artículo científico publicado en 2011

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome. ⬇️

artículo científico publicado en 2011

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

artículo científico

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

artículo científico publicado en 2016

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma

artículo científico publicado en 2013

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.

artículo científico publicado en 2017

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

artículo científico publicado en 2009

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

artículo científico publicado en 2009

Molecular cytogenetic characterization of an ins(4;X) occurring as the sole abnormality in an aggressive, poorly differentiated soft tissue sarcoma

scientific article published on 26 August 2005

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment

artículo científico publicado en 2019

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.