Rosário Santos

发表

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

A. Fortuna, A. D. de Brouwer, Nuno Maia, 2020, Clinical case reports.

Clinical and Genetic Analysis of Children with Kartagener Syndrome

R. Pereira, Jorge Oliveira, M. Sousa, 2019, Cells.

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

M. D'urso, C. Wadelius, A. Metspalu, 2002, European Journal of Human Genetics.

EMQN best practice guidelines for genetic testing in dystrophinopathies

R. Dalgleish, A. Ferlini, S. Abbs, 2020, European Journal of Human Genetics.

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

L. Belo, A. Santos-Silva, A. Quintanilha, 2012, Hemodialysis international. International Symposium on Home Hemodialysis.

Bilirubin Dependence on UGT1A1 Polymorphisms, Hemoglobin, Fasting Time and Body Mass Index

A. Santos-Silva, E. Bronze-da-Rocha, Rosário Santos, 2012, The American journal of the medical sciences.

Impact of UGT 1 A 1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects

A. Santos-Silva, E. Bronze-da-Rocha, Rosário Santos, 2012 .

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)

J. D. den Dunnen, Y. Ariyurek, Jorge Oliveira, 2021, International journal of molecular sciences.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

G. Soares, A. D. de Brouwer, Nuno Maia, 2020, Frontiers in Genetics.

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

Jorge Oliveira, Rosário Santos, Miguel Gonçalves-Rocha, 2011, Genetic testing and molecular biomarkers.

Development of NIPBL Locus‐Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome

J. D. den Dunnen, Jorge Oliveira, Rosário Santos, 2010, Human mutation.

Jorge Oliveira, T. Coelho, A. Gonçalves, 2017, Journal of neuromuscular diseases.

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

A. Munnich, S. Lyonnet, L. Vilarinho, 1992, Human Genetics.

Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions

Nuno Maia, I. Marques, Rosário Santos, 2020, Scientific Reports.

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.

Jorge Oliveira, M. Sousa, M. Vainzof, 2014, Journal of neuromuscular diseases.

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

Jorge Oliveira, A. Gonçalves, Rosário Santos, 2020, PloS one.

Hematologically important mutations: Shwachman-Diamond syndrome.

Rosário Santos, E. Costa, 2008, Blood cells, molecules & diseases.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

D. Koboldt, T. Kleefstra, H. van Bokhoven, 2022, American journal of medical genetics. Part A.

The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Domenica Taruscio, Emma Heslop, Jes Rahbek, 2013, Human mutation.

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

J. Hernández-Rivas, Jorge Oliveira, J. González-Porras, 2019, Annals of medicine.

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

J. L. Costa, M. Sousa, J. Machado, 2016, Journal of Human Genetics.

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

N. Lévy, Jorge Oliveira, F. Leturcq, 2011, Neuromuscular Disorders.

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

Jorge Oliveira, A. Fortuna, T. Evangelista, 2010, Journal of Human Genetics.

EMQN best practice guidelines for genetic testing in dystrophinopathies

R. Dalgleish, A. Ferlini, S. Abbs, 2020, European Journal of Human Genetics.

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

Jorge Oliveira, M. Sousa, T. Coelho, 2017, Genes.

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

A. Santos-Silva, E. Bronze-da-Rocha, Rosário Santos, 2012, Blood cells, molecules & diseases.

Mutation analysis in patients with total sperm immotility

R. Pereira, Jorge Oliveira, M. Sousa, 2015, Journal of Assisted Reproduction and Genetics.

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Christophe Béroud, Hanns Lochmüller, Petr Brabec, 2015, Human mutation.

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

Jorge Oliveira, T. Evangelista, J. P. Vieira, 2014, Journal of Human Genetics.

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

V. Cirigliano, G. Soares, Nuno Maia, 2018, BMC Medical Genetics.

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

R. Pereira, Jorge Oliveira, M. Sousa, 2019, Advances in medical sciences.

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

Rosário Santos, P. Jorge, Carina Rodrigues, 2005, European journal of endocrinology.

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

K. Bushby, K. Flanigan, C. Béroud, 2017, Journal of neuromuscular diseases.

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles

J. Tomaz, A. Gonçalves, Rosário Santos, 2022, International journal of molecular sciences.

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

J. T. Dunnen, H. Buermans, W. Kress, 2012, European Journal of Human Genetics.

Evaluating Runs of Homozygosity in Exome Sequencing Data - Utility in Disease Inheritance Model Selection and Variant Filtering

Mário Sousa, Jorge M. A. Oliveira, R. Pereira, 2017, BIOSTEC.

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

M. Sousa, A. Fortuna, C. Egas, 2015, Journal of Human Genetics.

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

J. D. den Dunnen, M. Sousa, T. Winder, 2018, Human mutation.

T E C H N I C a L a D V a N C E Open Access Development and Validation of a Multiplex-pcr Assay for X-linked Intellectual Disability

B. Oliveira, I. Marques, Rosário Santos, 2022 .

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

K. Friend, A. Fortuna, C. Shoubridge, 2015, Molecular genetics & genomic medicine.

Bilirubin Levels and Redox Status in a Young Healthy Population

A. Santos-Silva, E. Bronze-da-Rocha, S. Rocha, 2013, Acta Haematologica.

A Family With 2 Different Hereditary Diseases Leading to Early Cardiac Involvement

T. Evangelista, Rosário Santos, H. Nzwalo, 2013, Journal of clinical neuromuscular disease.

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.

Rosário Santos, M. Melo Pires, R. Taipa, 2014, Pediatric neurology.

Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases

Jorge Oliveira, Rosário Santos, Rute Pereira, 2017, BIOINFORMATICS.

Bilirubin _ Dependent on UGTJ A 1 Polymorph isms , Hemoglobin , Fasting Time and Body Mass Index

Rosário Santos, E. Costa, Carina Rodrigues, 2022 .

Variobox: Automatic Detection and Annotation of Human Genetic Variants

José Luís Oliveira, Paulo Gaspar, Pedro Lopes, 2014, Human mutation.

A NEW CASE OF (TA)8 ALLELE IN THE UGT1A1 GENE PROMOTER IN A CAUCASIAN GIRL WITH GILBERT’ SYNDROME

Rosário Santos, E. Costa, J. Barbot, 2004, Pediatric hematology and oncology.

Atypical phenotype in two patients with LAMA2 mutations

S. Duarte, T. Evangelista, E. Bronze-da-Rocha, 2014, Neuromuscular Disorders.

A Rare Disease Patient Manager

José Luís Oliveira, Pedro Lopes, Jorge Oliveira, 2012, Practical Applications of Computational Biology & Bioinformatics.

Gathering and Managing Genotype and Phenotype Information about Rare Diseases Patients

José Luís Oliveira, Pedro Lopes, Jorge Oliveira, 2012, HEALTHINF.

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

R. Margolis, A. Fortuna, P. Coutinho, 2011, Behavioral and Brain Functions.

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

B. Oliveira, Nuno Maia, I. Marques, 2016, Journal of Human Genetics.

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

A. D. de Brouwer, Nuno Maia, Rosário Santos, 2021, Genes.

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

A. Fortuna, G. Soares, Rosário Santos, 2014, Journal of clinical medicine.

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

F. Duque, L. Diogo, P. Garcia, 2007, Blood cells, molecules & diseases.

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2

A. Gonçalves, Rosário Santos, C. Lau, 2021, International Journal of Molecular Sciences.

Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant

Nuno Maia, Rosário Santos, I. Tavares, 2019, Amyloid: Journal of Protein Folding Disorders.

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

A. Fortuna, G. Soares, A. D. de Brouwer, 2017, Molecular Syndromology.

Atypical phenotype in two patients with LAMA2 mutations

S. Duarte, T. Evangelista, E. Bronze-da-Rocha, 2014, Neuromuscular Disorders.

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

S. Pascual-Pascual, C. Barbot, T. Coelho, 2008, Clinical genetics.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License the Treat-nmd Dmd Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

K. Bushby, K. Flanigan, C. Béroud, 2022 .

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

J. T. Dunnen, I. Fokkema, A. Gonçalves, 2008, Journal of Human Genetics.