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List of works by Jorge Oliveira

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene

scientific article

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

scientific article published on 03 January 2020

Birth After Electroejaculation Coupled to Intracytoplasmic Sperm Injection in a Gun-Shot Spinal Cord-Injured Man

scientific article published in January 1998

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction

scientific article published on 29 June 2019

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility

scientific article published in 2023

Clinical and Genetic Analysis of Children with Kartagener Syndrome

scientific article published on 15 August 2019

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

scientific article published on 14 February 2011

Comparative study of gene expression in patients with varicocele by microarray technology.

scientific article published on 16 August 2011

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

Embryological, clinical and ultrastructural study of human oocytes presenting indented zona pellucida

scientific article published on 2 September 2013

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

High-energy diets: a threat for male fertility?

scientific article

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

scientific article published in 2017

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

article

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

scientific article published on 01 March 2019

Intracellular pH regulation in human Sertoli cells: role of membrane transporters

scientific article published on 21 November 2008

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

scientific article published on 10 August 2018

MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes

scientific article published on 08 September 2020

Metformin and male reproduction: effects on Sertoli cell metabolism

scientific article published on February 2014

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

Molecular basis of bicarbonate membrane transport in the male reproductive tract.

scientific article published on January 2013

Molecular mechanisms beyond glucose transport in diabetes-related male infertility.

scientific article published on 21 January 2013

Mutation analysis in patients with total sperm immotility

scientific article published on 16 April 2015

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia

scientific article published on 23 October 2009

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

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

scientific article published on 10 July 2014

Novel Drug Therapies for Fertility Preservation in Men Undergoing Chemotherapy: Clinical Relevance of Protector Agents.

scientific article published on 20 August 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

Pioglitazone increases the glycolytic efficiency of human Sertoli cells with possible implications for spermatogenesis

scientific article published on 8 August 2016

Predictive value of testicular histology in secretory azoospermic subgroups and clinical outcome after microinjection of fresh and frozen-thawed sperm and spermatids

scientific article published in July 2002

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

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

scientific article published on January 2017

Regucalcin is broadly expressed in male reproductive tissues and is a new androgen-target gene in mammalian testis ⬇️

scientific article published in September 2011

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

scientific article published on 28 April 2014

Sperm parameters and epididymis function in transgenic rats overexpressing the Ca2+-binding protein regucalcin: a hidden role for Ca2+ in sperm maturation?

scientific journal article

Structural and molecular analysis of the cancer prostate cell line PC3: Oocyte zona pellucida glycoproteins

scientific article published on 03 November 2018

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

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children

scientific article published on 23 June 2014

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

scientific article published on 10 December 2019

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