Lista de obras - Jorge Oliveira - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

High-energy diets: a threat for male fertility?

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Metformin and male reproduction: effects on Sertoli cell metabolism

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Mutation analysis in patients with total sperm immotility

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

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

artículo científico publicado en 2014

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

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

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

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

artículo científico publicado en 2014

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

scientific article published on 10 December 2019

Lista de obras de Jorge Oliveira

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

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

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

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

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

Clinical and Genetic Analysis of Children with Kartagener Syndrome

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

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

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.

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

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

High-energy diets: a threat for male fertility?

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

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

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

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

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

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

Metformin and male reproduction: effects on Sertoli cell metabolism

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

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

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

Mutation analysis in patients with total sperm immotility

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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