Publicacións nas que colabora con Ángel Carracedo Álvarez (27)

2023

  1. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

  2. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

2021

  1. Development and evaluation of the ancestry informative marker panel of the visage basic tool

    Genes, Vol. 12, Núm. 8

2019

  1. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

  2. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294

  3. Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation

    Forensic Science International: Genetics, Vol. 43

2018

  1. Congenital hyperinsulinism in two siblings with ABCC8 mutation: Same genotype, different phenotypes

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 5, pp. 560-565

2017

  1. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

2016

  1. Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

    Scientific Reports, Vol. 6

2015

  1. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1315-1322

  2. Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la region de los síndromes de microdeleción/microduplicación 3q29

    Revista de Neurologia, Vol. 61, Núm. 6, pp. 255-260

  3. Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1369-1373

  4. Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo

    Revista de Neurologia, Vol. 61, Núm. 2, pp. 94-96

  5. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

  6. Mosaic maternal ancestry in the Great Lakes region of East Africa

    Human Genetics, Vol. 134, Núm. 9, pp. 1013-1027

  7. The multiethnic ancestry of Bolivians as revealed by the analysis of Y-chromosome markers

    Forensic Science International: Genetics, Vol. 14, pp. 210-218

2014

  1. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

    Journal of Medical Genetics, Vol. 51, Núm. 7, pp. 475-478

2013

  1. Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians

    Forensic Science International: Genetics, Vol. 7, Núm. 5, pp. 537-542

  2. The Genetic Legacy of the Pre-Colonial Period in Contemporary Bolivians

    PLoS ONE, Vol. 8, Núm. 3

2012

  1. Reconstructing ancient mitochondrial DNA links between Africa and Europe

    Genome Research, Vol. 22, Núm. 5, pp. 821-826