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Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy

International journal of molecular sciences, 2024-07, Vol.25 (14), p.7604

2024

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Long-Term Outcome of Biopsy-Proven, Frequently Relapsing Minimal-Change Nephrotic Syndrome in Children

Clinical journal of the American Society of Nephrology, 2009-10, Vol.4 (10), p.1593-1600

2009

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From gut to kidney: Transporting and metabolizing calcineurin-inhibitors in solid organ transplantation

International journal of pharmaceutics, 2013-08, Vol.452 (1-2), p.14-35

2013

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Placental passage of eculizumab and complement blockade in a newborn

Kidney international, 2019-04, Vol.95 (4), p.996-996

2019

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Conditionally immortalized human proximal tubular epithelial cells isolated from the urine of a healthy subject express functional calcium-sensing receptor

American journal of physiology. Renal physiology, 2015-06, Vol.308 (11), p.F1200-F1206

2015

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Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory

American journal of hematology, 2016-12, Vol.91 (12), p.E482-E490

2016

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SuO036APOL1 RISK VARIANTS (G1 AND G2) ARE ASSOCIATED WITH RENAL DISEASE IN HIV INFECTED CHILDREN THAN IN APPARENTLY HEALTHY CHILDREN FROM CENTRAL AFRICA

Nephrology, dialysis, transplantation, 2018-05, Vol.33 (suppl_1), p.i630-i630

2018

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

JIMD reports, 2019-09, Vol.49 (1), p.70-79

2019

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Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair

Nephron (2015), 2019-01, Vol.141 (2), p.133-146

2019

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18F-FDG-PET/CT for the detection of disease in patients with head and neck cancer treated with radiotherapy

PloS one, 2017, Vol.12 (8), p.e0182350-e0182350

2017

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Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies

Human molecular genetics, 2004-10, Vol.13 (20), p.2461-2472

2004

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Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

American journal of human genetics, 2006-11, Vol.79 (5), p.869-877

2006

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Antibody Response Against the Glomerular Basement Membrane Protein Agrin in Patients with Transplant Glomerulopathy

American journal of transplantation, 2005-02, Vol.5 (2), p.383-393

2005

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A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy

Pediatric neurology, 2010-03, Vol.42 (3), p.227-230

2010

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Platelet abnormalities in nephrotic syndrome

Pediatric nephrology (Berlin, West), 2016-08, Vol.31 (8), p.1267-1279

2016

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Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study

Journal of inherited metabolic disease, 2023-01, Vol.46 (1), p.43-54

2023

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2200 Kidney stem/progenitor cells can be isolated from the urine of neonates independently of their gestational age at birth

Nephrology, dialysis, transplantation, 2024-05, Vol.39 (Supplement_1)

2024

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sup.18F-FDG-PET/CT for the detection of disease in patients with head and neck cancer treated with radiotherapy

PloS one, 2017-08, Vol.12 (8), p.e0182350

2017

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SP781THE EFFECT OF IN VITRO TACROLIMUS EXPOSURE AND PHARMACOGENETIC VARIATION ON MULTILEVEL CYP3A5, ABCB1 EXPRESSION AND CTGF PRODUCTION IN HUMAN PROXIMAL TUBULE CELLS

Nephrology, dialysis, transplantation, 2017-05, Vol.32 (suppl_3), p.iii407-iii407

2017

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Detection of convertase-stabilizing factors in patients with complement-mediated renal diseases: Translation to a diagnostic approach

Molecular immunology, 2017-09, Vol.89, p.174-175

2017

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SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

Biochimica et biophysica acta. Molecular basis of disease, 2023-12, Vol.1869 (8), p.166808-166808, Article 166808

2023

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SP899OCCURRENCE OF ATYPICAL HEMOLYTIC UREMIC SYNDROME FOLLOWING INFLUENZA B INFECTION

Nephrology, dialysis, transplantation, 2015-05, Vol.30 (suppl_3), p.iii673-iii673

2015

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Recovery of renal function after long-term dialysis and resolution of cardiomyopathy in a patient with aHUS receiving eculizumab

BMJ case reports, 2016-02, Vol.2016, p.bcr2015213928

2016

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Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography

Journal of investigative dermatology, 2019-10, Vol.139 (10), p.2242-2245.e5

2019

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Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy

Long-Term Outcome of Biopsy-Proven, Frequently Relapsing Minimal-Change Nephrotic Syndrome in Children

From gut to kidney: Transporting and metabolizing calcineurin-inhibitors in solid organ transplantation

Placental passage of eculizumab and complement blockade in a newborn

Conditionally immortalized human proximal tubular epithelial cells isolated from the urine of a healthy subject express functional calcium-sensing receptor

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory

SuO036APOL1 RISK VARIANTS (G1 AND G2) ARE ASSOCIATED WITH RENAL DISEASE IN HIV INFECTED CHILDREN THAN IN APPARENTLY HEALTHY CHILDREN FROM CENTRAL AFRICA

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair

18F-FDG-PET/CT for the detection of disease in patients with head and neck cancer treated with radiotherapy

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

Antibody Response Against the Glomerular Basement Membrane Protein Agrin in Patients with Transplant Glomerulopathy

A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Platelet abnormalities in nephrotic syndrome

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study

2200 Kidney stem/progenitor cells can be isolated from the urine of neonates independently of their gestational age at birth

sup.18F-FDG-PET/CT for the detection of disease in patients with head and neck cancer treated with radiotherapy

SP781THE EFFECT OF IN VITRO TACROLIMUS EXPOSURE AND PHARMACOGENETIC VARIATION ON MULTILEVEL CYP3A5, ABCB1 EXPRESSION AND CTGF PRODUCTION IN HUMAN PROXIMAL TUBULE CELLS

Detection of convertase-stabilizing factors in patients with complement-mediated renal diseases: Translation to a diagnostic approach

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

SP899OCCURRENCE OF ATYPICAL HEMOLYTIC UREMIC SYNDROME FOLLOWING INFLUENZA B INFECTION

Recovery of renal function after long-term dialysis and resolution of cardiomyopathy in a patient with aHUS receiving eculizumab

Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography

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