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List of works by Rosário Santos

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

scientific article published on 24 July 2014

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

scientific article published in June 2013

Atypical phenotype in two patients with LAMA2 mutations

scientific article published on 25 January 2014

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

scientific article published in February 2012

Bilirubin levels and redox status in a young healthy population.

scientific article

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

scientific article published on 10 November 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?

scientific article published on 27 October 2016

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

scientific article

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

scientific article

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

scientific article published on July 2011

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

scientific article published on 3 October 2017

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

scientific article

Hematologically important mutations: Shwachman–Diamond syndrome

scientific article published on 04 October 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.

scientific article

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

scientific article published on 01 March 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

scientific article published in April 1992

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

scientific article published in April 2009

Mutation analysis in patients with total sperm immotility

scientific article published on 16 April 2015

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

scientific article

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

scientific article published on 4 February 2016

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

scientific article published on 5 March 2015

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

scientific article published on 09 March 2011

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

scientific article published on 11 March 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.

scientific article published on 20 April 2012

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

scientific article published on 10 June 2010

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients

scientific article published on January 2014

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

scientific article published in June 2011

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

scientific article published on March 2002

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

scientific article published on 17 March 2015

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

scientific article published on 26 August 2013

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

scientific article published on 20 February 2017

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

scientific article published on 29 August 2017

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

scientific article published in February 1993

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

scientific article published on 25 February 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>

scientific article published on 30 July 2020

Variobox: automatic detection and annotation of human genetic variants

scientific article

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