Lista de obras - Lídia Feliubadaló - Dominio Público Uruguay

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

artículo científico publicado en 2017

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

artículo científico publicado en 2012

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

artículo científico publicado en 2015

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

artículo científico publicado en 2010

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

artículo científico publicado en 2018

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

artículo científico publicado en 2017

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

scientific article published on 19 June 2020

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

artículo científico publicado en 2011

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

article

Functional and structural analysis of C-terminal BRCA1 missense variants

artículo científico publicado en 2013

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

artículo científico publicado en 2019

ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing

artículo científico publicado en 2014

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

artículo científico publicado en 2009

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

artículo científico publicado en 1999

Identification of a founder BRCA1 mutation in the Moroccan population.

artículo científico publicado en 2016

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

artículo científico publicado en 2011

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

artículo científico publicado en 2019

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

artículo científico publicado en 2010

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

scientific article published on 16 January 2016

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

artículo científico publicado en 2012

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

artículo científico publicado en 1999

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

scientific article published on 15 April 2019

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

artículo científico publicado en 2018

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

artículo científico publicado en 1999

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies

artículo científico publicado en 2007

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

artículo científico publicado en 2003

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

artículo científico publicado en 2018

The genetics of heteromeric amino acid transporters

artículo científico publicado en 2005

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

artículo científico publicado en 2013

Lista de obras de Lídia Feliubadaló

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

Functional and structural analysis of C-terminal BRCA1 missense variants

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Identification of a founder BRCA1 mutation in the Moroccan population.

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

The genetics of heteromeric amino acid transporters

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.