List of works - Paola Riva

19p Deletion in Recurring Leiomyosarcoma Lesions from the Same Patient

scientific article published in June 2000

A 12-bp deletion ( 7818del12 ) in the c-kit protooncogene in a large Italian kindred with piebaldism

scientific article published in 1995

A novel potentially diagnostic polymorphism (4894 A/C) in exon 10 of the human c-kitproto-oncogene

scientific article published in October 1996

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

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

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes

scientific article published in 2022

Current therapeutic options and novel molecular markers in skull base chordomas

scientific article

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

scientific article published on June 2009

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

scientific article

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

scientific article published on 08 June 2020

Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population

scientific article published in December 1999

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

scientific article published on 15 November 2007

Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.

scientific article

Evaluation of 1p36 markers and clinical outcome in a skull base chordoma study

scientific article

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

scientific article

Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2).

scientific article

Expression of c-sis and c-fos genes in human meningiomas and neurinomas

scientific article published on July 30, 1992

Expression study of the target receptor tyrosine kinase of Imatinib mesylate in skull base chordomas

scientific article

FAS/FASL are dysregulated in chordoma and their loss-of-function impairs zebrafish notochord formation

scientific article

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

scientific article published on 10 December 2015

Hyper conserved elements in vertebrate mRNA 3'-UTRs reveal a translational network of RNA-binding proteins controlled by HuR.

scientific article published on February 2013

Identification of a small supernumerary marker chromosome, r(2)(p10q11.2), and the problem of determining prognosis

scientific article published in October 2001

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

scientific article published on 3 August 2017

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

article

Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis

scientific article

Mapping of human WHN gene in a 17q11.2 YAC contig and identification of an intragenic STR

scientific article published in June 1999

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

scientific article

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

scientific article

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

scientific article

Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients

scientific article published on 05 November 2019

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

scientific article published on 01 September 2010

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

scientific article

Satellite DNA sequences flank amplified DHFR domains in marker chromosomes of mouse fibrosarcoma cells.

scientific article published on January 1994

Skull base chordomas: clinical outcome in a consecutive series of 45 patients with long-term follow-up and evaluation of clinical and biological prognostic factors

scientific article

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 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

Update on the cytogenetics and molecular genetics of chordoma

scientific article

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

scientific article

List of works by Paola Riva

19p Deletion in Recurring Leiomyosarcoma Lesions from the Same Patient

A 12-bp deletion ( 7818del12 ) in the c-kit protooncogene in a large Italian kindred with piebaldism

A novel potentially diagnostic polymorphism (4894 A/C) in exon 10 of the human c-kitproto-oncogene

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

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

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

Centaurin-α₂ interacts with β-tubulin and stabilizes microtubules

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

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes

Current therapeutic options and novel molecular markers in skull base chordomas

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.

Evaluation of 1p36 markers and clinical outcome in a skull base chordoma study

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

Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2).

Expression of c-sis and c-fos genes in human meningiomas and neurinomas

Expression study of the target receptor tyrosine kinase of Imatinib mesylate in skull base chordomas

FAS/FASL are dysregulated in chordoma and their loss-of-function impairs zebrafish notochord formation

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

Hyper conserved elements in vertebrate mRNA 3'-UTRs reveal a translational network of RNA-binding proteins controlled by HuR.

Identification of a small supernumerary marker chromosome, r(2)(p10q11.2), and the problem of determining prognosis

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

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

Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis

Mapping of human WHN gene in a 17q11.2 YAC contig and identification of an intragenic STR

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

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients

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

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

Satellite DNA sequences flank amplified DHFR domains in marker chromosomes of mouse fibrosarcoma cells.

Skull base chordomas: clinical outcome in a consecutive series of 45 patients with long-term follow-up and evaluation of clinical and biological prognostic factors

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

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

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

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

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

Update on the cytogenetics and molecular genetics of chordoma

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