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Lista de obras de João Paulo Oliveira

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

artículo científico publicado en 2014

Angiokeratomas of Fabry successfully treated with intense pulsed light

artículo científico publicado en 2008

Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients

scientific article published on 01 November 2008

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis

artículo científico

Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients

artículo científico publicado en 2012

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.

artículo científico publicado en 2013

Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy.

artículo científico publicado en 2010

Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

artículo científico publicado en 2008

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

artículo científico publicado en 2009

Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease

scientific article published on 01 September 2004

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene

artículo científico publicado en 2011

Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease

artículo científico publicado en 2020

Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males

artículo científico publicado en 2019

Fabry disease: Detection of Alu-mediated exon duplication by NGS

scientific article published on 29 March 2019

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

artículo científico publicado en 2007

Formal recognition of the speciality of medical genetics in Portugal

artículo científico publicado en 2000

Functional transcranial Doppler: presymptomatic changes in Fabry disease

artículo científico publicado en 2012

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

article

Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction

artículo científico publicado en 2014

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

artículo científico publicado en 2010

Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections

artículo científico publicado en 2011

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy

artículo científico publicado en 2008

Kidney histologic alterations in α-Galactosidase-deficient mice

scientific article published on 16 February 2011

More on noncompaction in Fabry's disease

artículo científico publicado en 2015

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations

artículo científico publicado en 2019

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

artículo científico publicado en 2010

Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations

artículo científico publicado en 2009

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy

artículo científico publicado en 2008

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination

artículo científico publicado en 2009

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

artículo científico publicado en 2010

Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults

artículo científico publicado en 2008

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

artículo científico publicado en 2015

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease

artículo científico publicado en 2008

Staging of Fabry disease using renal biopsies

artículo científico publicado en 2007

The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific

artículo científico publicado en 2015

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

artículo científico publicado en 2014

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

artículo científico publicado en 2016

Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.

artículo científico publicado en 2017

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

artículo científico publicado en 2015

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