Lista de obras - Paola Riva - Dominio Público Uruguay

19p Deletion in Recurring Leiomyosarcoma Lesions from the Same Patient

artículo científico publicado en 2000

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

artículo científico publicado en 1995

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

artículo científico publicado en 1996

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Centaurin-α₂ interacts with β-tubulin and stabilizes microtubules

artículo científico publicado en 2012

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 18 de octubre de 2011

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 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.

artículo científico publicado en 1997

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado el 30 de julio de 1992

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 1999

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2000

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado el 23 de mayo de 2011

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

artículo científico publicado en 2016

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

article

Update on the cytogenetics and molecular genetics of chordoma

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Lista de obras de 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 Role of miR-103 and miR-107 in Regulation of CDK5R1 Expression and in Cellular Migration ⬇️

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.