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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

PLoS genetics, 2022-12, Vol.18 (12), p.e1010504

2022

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Functional characterization of novel variants found in patients with suspected Fabry disease

Clinica chimica acta, 2022-09, Vol.534, p.156-160

2022

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Distinct roles of angiotensin receptors in autonomic dysreflexia following high-level spinal cord injury in mice

Experimental neurology, 2019-01, Vol.311, p.173-181

2019

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Kinin B1 receptor deficiency promotes enhanced adipose tissue thermogenic response to β3-adrenergic stimulation

Inflammation research, 2024-07

2024

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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.365-365, Article 365

2021

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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.30-30, Article 30

2020

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Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Genes, 2020-01, Vol.11 (1), p.24

2020

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Relative frequency of inherited retinal dystrophies in Brazil

Scientific reports, 2018-10, Vol.8 (1), p.15939-9, Article 15939

2018

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Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Genes, 2019-12, Vol.11 (1), p.24

2019

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Germline ERBB2 / HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms

Cancers, 2021-06, Vol.13 (13), p.3246

2021

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P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant

Genetics in Medicine Open, 2023, Vol.1 (1), p.100734, Article 100734

2023

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The role of N-terminal and C-terminal Arg residues from BK on interaction with kinin B2 receptor

Biological chemistry, 2016-04, Vol.397 (4), p.305

2016

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A fluorimetric binding assay for angiotensin II and kinin receptors

Journal of pharmacological and toxicological methods, 2016-05, Vol.79, p.55-59

2016

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The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Scientific reports, 2017-08, Vol.7 (1), p.8654-9, Article 8654

2017

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An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq

BMC medical genomics, 2023-05, Vol.16 (1), p.94-94, Article 94

2023

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Evidence that kinin B2 receptor expression is upregulated by endothelial overexpression of B1 receptors

Peptides (New York, N.Y. : 1980), 2013-04, Vol.42, p.1-7

2013

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Angiotensin II binding to angiotensin I-converting enzyme triggers calcium signaling

Hypertension (Dallas, Tex. 1979), 2011-05, Vol.57 (5), p.965-972

2011

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Integrating Whole Blood Transcriptomic Collection Procedures Into the Current Anti-Doping Testing System, Including Long-Term Storage and Re-Testing of Anti-Doping Samples

Frontiers in molecular biosciences, 2021-10, Vol.8, p.728273-728273

2021

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Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema

Frontiers in medicine, 2019-02, Vol.6, p.28-28

2019

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Cross talk between kinin and angiotensin II receptors in mouse abdominal aorta

Biological chemistry, 2009-09, Vol.390 (9), p.907-913

2009

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Tenascin C down regulation in a neuron model of Fabry disease

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S123-S123

2022

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ROLE OF BRAIN EXTRACELLULAR MATRIX GLYCOPROTEINS IN THE PSYCHIATRIC SYMPTOMS IN FABRY DISEASE

European neuropsychopharmacology, 2022-10, Vol.63, p.e284-e285

2022

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The impact of GeneMatcher on international data sharing and collaboration

Human mutation, 2022-06, Vol.43 (6), p.668-673

2022

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Variant‐level matching for diagnosis and discovery: Challenges and opportunities

Human mutation, 2022-06, Vol.43 (6), p.782-790

2022

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De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63501-n/a

2024

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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

Functional characterization of novel variants found in patients with suspected Fabry disease

Distinct roles of angiotensin receptors in autonomic dysreflexia following high-level spinal cord injury in mice

Kinin B1 receptor deficiency promotes enhanced adipose tissue thermogenic response to β3-adrenergic stimulation

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Relative frequency of inherited retinal dystrophies in Brazil

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Germline ERBB2 / HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms

P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant

The role of N-terminal and C-terminal Arg residues from BK on interaction with kinin B2 receptor

A fluorimetric binding assay for angiotensin II and kinin receptors

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq

Evidence that kinin B2 receptor expression is upregulated by endothelial overexpression of B1 receptors

Angiotensin II binding to angiotensin I-converting enzyme triggers calcium signaling

Integrating Whole Blood Transcriptomic Collection Procedures Into the Current Anti-Doping Testing System, Including Long-Term Storage and Re-Testing of Anti-Doping Samples

Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema

Cross talk between kinin and angiotensin II receptors in mouse abdominal aorta

Tenascin C down regulation in a neuron model of Fabry disease

ROLE OF BRAIN EXTRACELLULAR MATRIX GLYCOPROTEINS IN THE PSYCHIATRIC SYMPTOMS IN FABRY DISEASE

The impact of GeneMatcher on international data sharing and collaboration

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

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