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List of works by Paolo M Fortina

A > 200 kb deletion removing the entire β-like globin gene cluster in a family of Irish Descent ⬇️

scientific article published on January 1, 1991

Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder ⬇️

scientific article published on September 1, 1998

Analytical Ancestry: Evolution of the Array in Analysis ⬇️

scientific article published on October 13, 2010

Association of RB/p16-pathway perturbations with DCIS recurrence: dependence on tumor versus tissue microenvironment ⬇️

scientific article published on July 12, 2011

Bridging genomics research between developed and developing countries: the Genomic Medicine Alliance

ChIP sequencing of cyclin D1 reveals a transcriptional role in chromosomal instability in mice

scientific article

Concordance Study of 3 Direct-to-Consumer Genetic-Testing Services ⬇️

scientific article published on December 15, 2010

Cyclin D1 induction of Dicer governs microRNA processing and expression in breast cancer.

scientific article published on January 2013

Degenerate Oligonucleotide Primed–Polymerase Chain Reaction and Capillary Electrophoretic Analysis of Human DNA on Microchip-Based Devices ⬇️

scientific article published on March 15, 1998

Detection and Characterization of Circulating Tumor Associated Cells in Metastatic Breast Cancer.

scientific article published on 30 September 2016

Detection of the most common mutations causing beta-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS)

scientific article published on November 1, 1992

Different hematological phenotypes caused by the interaction of triplicated α-globin genes and heterozygous β-thalassemia ⬇️

scientific article published on 01 June 1997

Epigenomic profiling of neuroblastoma cell lines

scientific article published on 14 April 2020

Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the delta F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

scientific article published on 01 August 1992

Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium ⬇️

scientific article published on March 24, 2011

Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

scientific article

Glucocorticoids paradoxically facilitate steroid resistance in T cell acute lymphoblastic leukemias and thymocytes

scientific article published on 01 February 2020

Hearts lacking caveolin-1 develop hypertrophy with normal cardiac substrate metabolism

scientific article

Integrated Cell Isolation and Polymerase Chain Reaction Analysis Using Silicon Microfilter Chambers ⬇️

scientific article published on March 15, 1998

International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16.

scientific article

Kinase-independent role of cyclin D1 in chromosomal instability and mammary tumorigenesis

scientific article

Loss of stromal caveolin-1 leads to oxidative stress, mimics hypoxia and drives inflammation in the tumor microenvironment, conferring the "reverse Warburg effect": a transcriptional informatics analysis with validation

scientific article published in June 2010

Mammary gland selective excision of c-jun identifies its role in mRNA splicing

scientific article

Melanoma adapts to RAF/MEK inhibitors through FOXD3-mediated upregulation of ERBB3 ⬇️

scientific article published on April 1, 2013

Microchip-based Devices for Molecular Diagnosis of Genetic Diseases

scientific article

NFκB activation and stimulation of chemokine production in normal human macrophages by the gadolinium-based magnetic resonance contrast agent Omniscan: possible role in the pathogenesis of nephrogenic systemic fibrosis ⬇️

scientific article published on November 1, 2010

Nanotechnology: Improving Clinical Testing? ⬇️

scientific article published on September 1, 2010

Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction

scientific article published on 01 December 1992

Novel oncogene-induced metastatic prostate cancer cell lines define human prostate cancer progression signatures

scientific article published on 30 November 2012

Parallel molecular genetic analysis ⬇️

scientific article published on 01 September 1998

RB loss contributes to aggressive tumor phenotypes in MYC-driven triple negative breast cancer

scientific article

RNA-Binding Protein HuR Promotes Th17 Cell Differentiation and Can Be Targeted to Reduce Autoimmune Neuroinflammation

scientific article published on 13 March 2020

Revealing genes associated with vitellogenesis in the liver of the zebrafish (Danio rerio) by transcriptome profiling

scientific article

Roles of β-catenin signaling in phenotypic expression and proliferation of articular cartilage superficial zone cells ⬇️

scientific article published on October 3, 2011

STAT5A/B Gene Locus Undergoes Amplification during Human Prostate Cancer Progression ⬇️

scientific article published on May 7, 2013

Sighting acute myocardial infarction through platelet gene expression

scientific article published on 20 December 2019

Structure-Based Screen Identifies a Potent Small Molecule Inhibitor of Stat5a/b with Therapeutic Potential for Prostate Cancer and Chronic Myeloid Leukemia.

scientific article published on 29 May 2015

Substrate uptake and metabolism are preserved in hypertrophic caveolin-3 knockout hearts

scientific journal article

Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy

scientific article published on 28 September 2016

The complex transcriptional landscape of the anucleate human platelet

scientific article

The reverse Warburg effect: aerobic glycolysis in cancer associated fibroblasts and the tumor stroma

scientific article

Use of linkage analysis, genome-wide association studies, and next-generation sequencing in the identification of disease-causing mutations

scientific article

Validation of a Miniaturized Permeability Assay Compatible with CRISPR-Mediated Genome-Wide Screen

scientific article published on 02 October 2019

Vestibular and hearing loss in genetic and metabolic disorders

scientific article

p21CIP1 attenuates Ras- and c-Myc-dependent breast tumor epithelial mesenchymal transition and cancer stem cell-like gene expression in vivo.

scientific article published on 26 October 2009

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