about
Calcium release channel RyR2 regulates insulin release and glucose homeostasisPericentromeric organization at the fusion point of mouse Robertsonian translocation chromosomes.The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyClinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationIn situ RT-PCR allows the detection of ornithine decarboxylase mRNA in paraffin embedded archival human hyperplastic breast tissues.Modeled gravitational unloading triggers differentiation and apoptosis in preosteoclastic cells.Rapid and portable, lab-on-chip, point-of-care genotyping for evaluating clopidogrel metabolism.EDG3 and SHC3 on chromosome 9q22 are co-amplified in human ependymomas.Detection of Epstein Barr virus in formalin-fixed paraffin tissues by fluorescent direct in situ PCR.Gene symbol: BMPR2. Disease: Pulmonary hypertension, primary.Direct in situ PCR allows rapid and sensitive detection of high risk human papillomavirus in cytologic specimens and formalin-fixed paraffin tissues by fluorescent labelling.Novel human pathological mutations. Gene symbol: LMNA. Disease: cardiomyopathy, dilated with conduction defects.A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency.Five mutations in the GABA A alpha6 gene 5' flanking region are associated with a reduced basal and ethanol-induced alpha6 upregulation in mutated Sardinian alcohol non-preferring rats.Changing place, changing future: Repositioning a subcutaneous implantable cardioverter-defibrillator can resolve inappropriate shocks secondary to myopotential oversensing.Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.Assignment of the mouse Vegfb gene to mouse chromosome 19 B by in situ hybridization.Development and loss of the ability of mouse oolemma to fuse with spermatozoa.EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL).The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease.Calcium release channel RyR2 regulates insulin release and glucose homeostasis.Visual arts and genetics: lessons from the past.Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermographyHigh-dose erythropoietin in patients with acute myocardial infarction: A pilot, randomised, placebo-controlled studyThe first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantationLetter by Maurizia Grasso et al. regarding article, “Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation”Gene symbol: LDB3Gene symbol: LDB3Gene symbol: LMNAGene symbol: LMNAAneurysm Syndromes and TGF-β Receptor MutationsαB-Crystallin mutation in dilated cardiomyopathies: Low prevalence in a consecutive series of 200 unrelated probandsGene symbol: KCNQ1. Disease: LQT1Simulated hypogravity impairs the angiogenic response of endothelium by up-regulating apoptotic signalsRole of cardiac imaging in Anderson-Fabry cardiomyopathyComparative localization of the mannose-binding lectin-2 (MBL2) gene in non-human primates
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P50
description
researcher
@en
wetenschapper
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name
Marziliano N
@nl
Nicola Marziliano
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type
label
Marziliano N
@nl
Nicola Marziliano
@en
altLabel
Marziliano N
@en
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Marziliano N
@nl
Nicola Marziliano
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P106
P31
P496
0000-0001-6800-089X