Lista de obras - Rosário Santos - Dominio Público Uruguay

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.

artículo científico publicado en 2014

A family with 2 different hereditary diseases leading to early cardiac involvement.

artículo científico publicado en 2013

Atypical phenotype in two patients with LAMA2 mutations

artículo científico publicado en 2014

Bilirubin dependence on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index.

artículo científico publicado en 2012

Bilirubin levels and redox status in a young healthy population.

artículo científico publicado en 2013

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

artículo científico publicado en 2017

Clinical and Genetic Analysis of Children with Kartagener Syndrome

scientific article published on 15 August 2019

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

artículo científico publicado en 2016

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

artículo científico publicado en 2013

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

artículo científico publicado en 2010

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

artículo científico publicado en 2011

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

artículo científico publicado en 2017

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

artículo científico publicado en 2011

Hematologically important mutations: Shwachman–Diamond syndrome

artículo científico publicado en 2007

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome

article

Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.

artículo científico publicado en 2009

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

artículo científico publicado en 2019

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects

article

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

artículo científico publicado en 1992

Lipoprotein(a) levels in obese Portuguese children and adolescents: contribution of the pentanucleotide repeat (TTTTA)n polymorphism in the apolipoprotein(a) gene.

artículo científico publicado en 2009

Mutation analysis in patients with total sperm immotility

artículo científico publicado en 2015

New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.

artículo científico publicado en 2011

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies

artículo científico publicado en 2016

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

artículo científico publicado en 2015

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

artículo científico publicado en 2011

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

artículo científico publicado en 2008

Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene.

artículo científico publicado en 2012

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

artículo científico publicado en 2010

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients

artículo científico publicado en 2014

Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening

artículo científico publicado en 2011

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

artículo científico publicado en 2002

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

artículo científico publicado en 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

artículo científico

The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement

artículo científico publicado en 2017

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

artículo científico publicado en 2017

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

artículo científico publicado en 1993

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

artículo científico publicado en 2015

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough

scientific article published on 10 December 2019

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>

artículo científico publicado en 2020

Variobox: automatic detection and annotation of human genetic variants

artículo científico publicado en 2013

Lista de obras de Rosário Santos

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.

A family with 2 different hereditary diseases leading to early cardiac involvement.

Atypical phenotype in two patients with LAMA2 mutations

Bilirubin dependence on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index.

Bilirubin levels and redox status in a young healthy population.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Clinical and Genetic Analysis of Children with Kartagener Syndrome

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Hematologically important mutations: Shwachman–Diamond syndrome

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome

Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

Lipoprotein(a) levels in obese Portuguese children and adolescents: contribution of the pentanucleotide repeat (TTTTA)n polymorphism in the apolipoprotein(a) gene.

Mutation analysis in patients with total sperm immotility

New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene.

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients

Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>

Variobox: automatic detection and annotation of human genetic variants