about
Inherited platelet disorders: toward DNA-based diagnosisDefects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture.The Human Phenotype Ontology in 2017Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells.BGX: a Bioconductor package for the Bayesian integrated analysis of Affymetrix GeneChips.A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Flexible analysis of RNA-seq data using mixed effects models.Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.Induction of p16(INK4a) is the major barrier to proliferation when Epstein-Barr virus (EBV) transforms primary B cells into lymphoblastoid cell lines.ontologyX: a suite of R packages for working with ontological dataA multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia.A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arraysExtensive co-operation between the Epstein-Barr virus EBNA3 proteins in the manipulation of host gene expression and epigenetic chromatin modification.Platelet function is modified by common sequence variation in megakaryocyte super enhancersHybrid mice reveal parent-of-origin and Cis- and trans-regulatory effects in the retinaTranscriptional diversity during lineage commitment of human blood progenitors.The South Asian genome.Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads.Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape.Extensive compensatory cis-trans regulation in the evolution of mouse gene expression.Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare DiseasesA high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersAltered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.A comparative study of RNA-seq analysis strategies.PIGO deficiency: palmoplantar keratoderma and novel mutationsAbnormal differentiation of B cells and megakaryocytes in Roifman syndrome.High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized miceA mutation of the human EPHB2 gene leads to a major platelet functional defectvariants causing autosomal recessive macrothrombocytopenia without associated muscle wastingStatistical Analysis of Mapped Reads from mRNA-Seq DataTranscription Factor Levels after Forward Programming of Human Pluripotent Stem Cells with GATA1, FLI1, and TAL1 Determine Megakaryocyte versus Erythroid Cell Fate DecisionA novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in plateletsSphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Ernest Turro
@ast
Ernest Turro
@en
Ernest Turro
@es
Ernest Turro
@nl
type
label
Ernest Turro
@ast
Ernest Turro
@en
Ernest Turro
@es
Ernest Turro
@nl
prefLabel
Ernest Turro
@ast
Ernest Turro
@en
Ernest Turro
@es
Ernest Turro
@nl
P106
P21
P2456
P31
P496
0000-0002-1820-6563