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Lista de obras de Carla Sustek D'Angelo

Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

artículo científico publicado en 2014

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

artículo científico publicado en 2007

Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches

artículo científico publicado en 2012

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

artículo científico publicado en 2016

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

artículo científico publicado en 2013

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

artículo científico publicado en 2009

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

article

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

artículo científico publicado en 2014

Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion

scientific article published on 01 December 2010

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

artículo científico publicado en 2013

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

artículo científico publicado en 2006

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.

artículo científico publicado en 2015

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