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List of works by Marco Venturin

A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndrome

scientific article published on 01 April 2010

ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome

scientific article published on 7 April 2014

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

scientific article published on 29 October 2013

Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.

scientific article

Centaurin-α₂ interacts with β-tubulin and stabilizes microtubules

scientific article

Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams–Beuren syndrome region in chromosomal rearrangements

scientific article published on 3 December 2005

Emerging Role of Genetic Alterations Affecting Exosome Biology in Neurodegenerative Diseases ⬇️

scientific article published on 23 August 2019

Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval

scientific article

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

scientific article published on 10 December 2015

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers

article

MicroRNA-23b mediates urokinase and c-met downmodulation and a decreased migration of human hepatocellular carcinoma cells.

scientific article

Multiple Layers of CDK5R1 Regulation in Alzheimer's Disease Implicate Long Non-Coding RNAs

scientific article published on 11 July 2018

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations

scientific article published on 01 September 2010

Psychiatric Disorders and lncRNAs: A Synaptic Match

scientific article published on 25 April 2020

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

article

The 3' untranslated region of human Cyclin-Dependent Kinase 5 Regulatory subunit 1 contains regulatory elements affecting transcript stability

scientific article

The Long Non-Coding RNAs in Neurodegenerative Diseases: Novel Mechanisms of Pathogenesis.

scientific article published on 22 June 2016

The Role of miR-103 and miR-107 in Regulation of CDK5R1 Expression and in Cellular Migration ⬇️

scientific article published on May 23, 2011

The miR-15/107 Family of microRNA Genes Regulates CDK5R1/p35 with Implications for Alzheimer's Disease Pathogenesis

scientific article published on 24 June 2016

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

article

hnRNPA2/B1 and nELAV proteins bind to a specific U-rich element in CDK5R1 3'-UTR and oppositely regulate its expression.

scientific article

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