Lista de obras - Judy Savige - Dominio Público Uruguay

A comparison of commercial and in-house ELISAs for antineutrophil cytoplasmic antibodies directed against proteinase 3 and myeloperoxidase

scientific article published on 01 February 1999

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.

artículo científico publicado en 2013

A study of long-term morbidity associated with autosomal recessive polycystic kidney disease

scientific article published on 01 January 1999

Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure

artículo científico publicado en 2009

Alport syndrome: About time--treating children with Alport syndrome

artículo científico publicado en 2012

Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment

artículo científico publicado en 2014

Anti-glomerular basement membrane (GBM)-antibody-mediated disease with normal renal function

artículo científico publicado en 1998

Anti-neutrophil cytoplasmic antibodies (ANCA): their detection and significance: report from workshops

artículo científico publicado en 1994

Anti-neutrophil cytoplasmic antibodies associated with atrial myxoma

artículo científico publicado en 1988

Anti-neutrophil cytoplasmic antibody (ANCA)-associated microscopic polyangiitis following a suppurative wound infection

scientific article published on 03 August 2006

Antigen-specific ANCA ELISAs have different sensitivities for active and treated vasculitis and for nonvasculitic disease

scientific article published on 01 January 2008

Antineutrophil cytoplasmic antibody (ANCA) testing of routine sera varies in different laboratories but concordance is greater for cytoplasmic fluorescence (C-ANCA) and myeloperoxidase specificity (MPO-ANCA)

scientific article published on 31 May 2009

Antithyroid and antiadrenal autoantibodies in antiglomerular basement membrane disease, thin basement membrane disease and Alport syndrome

artículo científico publicado en 1998

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

artículo científico publicado en 2008

Autosomal Dominant Polycystic Kidney Disease: A Path Forward.

artículo científico publicado en 2015

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

artículo científico publicado en 2013

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

artículo científico publicado en 2001

Cardiac injury and troponin testing after orthopaedic surgery.

artículo científico

Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.

artículo científico publicado en 2006

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

artículo científico publicado en 2013

Clinical associations and characterisation of antineutrophil cytoplasmic antibodies directed against bactericidal/permeability-increasing protein and azurocidin

artículo científico publicado en 2000

Detection of autoantibodies to neutrophil cytoplasmic antigens.

artículo científico publicado en 1995

Diabetic pyomyositis: an uncommon cause of a painful leg

artículo científico publicado en 2004

Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

artículo científico publicado en 2007

Does cardiology intervention improve mortality for post-operative troponin elevations after emergency orthopaedic-geriatric surgery? A randomised controlled study

artículo científico publicado en 2012

ELISA is the superior method for detecting antineutrophil cytoplasmic antibodies in the diagnosis of systemic necrotising vasculitis.

artículo científico publicado en 2000

Evaluation of a multiplex flow cytometric immunoassay to detect PR3- and MPO-ANCA in active and treated vasculitis, and in inflammatory bowel disease (IBD)

artículo científico publicado en 2008

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

artículo científico

Hematuria in thin basement membrane nephropathy

artículo científico publicado en 2005

Hereditary abnormalities of renal basement membranes.

artículo científico publicado en 1991

Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities

artículo científico publicado en 2022

Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease

artículo científico publicado en 2015

Indirect immunofluorescence (IIF) of normal washed peripheral blood cells to demonstrate antineutrophil cytoplasmic antibodies (ANCA)

artículo científico publicado en 2000

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis

artículo científico publicado en 2015

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling

artículo científico publicado en 2015

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Polycystic Liver Disease

artículo científico publicado en 2015

KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease

artículo científico publicado en 2015

Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.

artículo científico publicado en 2011

Microvascular dilatation after haemodialysis is determined by the volume of fluid removed and fall in mean arterial pressure

artículo científico publicado en 2012

Microvascular narrowing and BP monitoring: A single centre observational study

scientific article published on 14 March 2019

Microvascular retinopathy and angiographically-demonstrated coronary artery disease: A cross-sectional, observational study.

artículo científico publicado en 2018

Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

artículo científico publicado en 2014

Myelodysplasia, vasculitis and anti-neutrophil cytoplasm antibodies.

artículo científico publicado en 1993

N-terminal pro-brain natriuretic peptide and angiotensin-converting enzyme-2 levels and their association with postoperative cardiac complications after emergency orthopedic surgery.

artículo científico publicado en 2012

NPHS2 variation in focal and segmental glomerulosclerosis

artículo científico publicado en 2008

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases

artículo científico publicado en 2007

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

artículo científico publicado en 2001

Opinion: Ocular features aid the diagnosis of Alport syndrome.

artículo científico publicado en 2009

Orthopaedic-geriatric models of care and their effectiveness.

artículo científico publicado en 2009

Persistent familial hematuria in children and the locus for thin basement membrane nephropathy

artículo científico publicado en 2005

Propylthiouracil-induced antineutrophil cytoplasmic antibodies in a patient with Graves' disease and a neutrophilic dermatosis

artículo científico publicado en 1999

Pyoderma gangrenosum with secondary pyarthrosis following propylthiouracil

scientific article published on 01 August 1999

Retinal atrophy associated with FSGS in a patient with MELAS syndrome.

artículo científico publicado en 2008

Retinal basement membrane abnormalities and the retinopathy of Alport syndrome

artículo científico publicado en 2009

Retinal venular calibre is increased in patients with autoimmune rheumatic disease: a case-control study.

artículo científico publicado en 2013

Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome

scientific article published on 01 May 2001

Stem cell therapy for Alport syndrome: the hope beyond the hype

artículo científico publicado en 2008

Testing on formalin-fixed neutrophils is less sensitive and specific for small vessel vasculitis, and less sensitive for MPO-ANCA, than most ELISAs.

artículo científico publicado en 2008

The 2014 International Workshop on Alport Syndrome.

artículo científico publicado en 2014

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

artículo científico publicado en 2014

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy

scientific article published on 26 August 2008

The binding of proteinase 3 antineutrophil cytoplasmic antibodies (PR3-ANCA) varies in different ELISAs.

artículo científico publicado en 2004

The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

artículo científico publicado en 2017

The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms.

artículo científico publicado en 2008

The genetics of thin basement membrane nephropathy

artículo científico publicado en 2005

The microvasculature in chronic kidney disease.

artículo científico publicado en 2011

The retinal "lozenge" or "dull macular reflex" in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure.

artículo científico publicado en 2008

The risks of thin basement membrane nephropathy.

artículo científico publicado en 2005

The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.

artículo científico publicado en 2008

Thin basement membrane nephropathy

artículo científico publicado en 2003

Thin basement membrane nephropathy and coincidental renal biopsy lesions

scientific article published on 01 April 2004

Troponin I and NT-proBNP (N-terminal pro-brain natriuretic peptide) do not predict 6-month mortality in frail older patients undergoing orthopedic surgery.

artículo científico publicado en 2010

Two ELISAs to detect anti-neutrophil cytoplasm antibodies (ANCA) in various vasculitides

artículo científico publicado en 1989

Vision-threatening retinal abnormalities in chronic kidney disease stages 3 to 5.

artículo científico publicado en 2011

What do antineutrophil cytoplasmic antibodies (ANCA) tell us?

artículo científico publicado en 2005

Lista de obras de Judy Savige

A comparison of commercial and in-house ELISAs for antineutrophil cytoplasmic antibodies directed against proteinase 3 and myeloperoxidase

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.

A study of long-term morbidity associated with autosomal recessive polycystic kidney disease

Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure

Alport syndrome: About time--treating children with Alport syndrome

Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment

Anti-glomerular basement membrane (GBM)-antibody-mediated disease with normal renal function

Anti-neutrophil cytoplasmic antibodies (ANCA): their detection and significance: report from workshops

Anti-neutrophil cytoplasmic antibodies associated with atrial myxoma

Anti-neutrophil cytoplasmic antibody (ANCA)-associated microscopic polyangiitis following a suppurative wound infection

Antigen-specific ANCA ELISAs have different sensitivities for active and treated vasculitis and for nonvasculitic disease

Antineutrophil cytoplasmic antibody (ANCA) testing of routine sera varies in different laboratories but concordance is greater for cytoplasmic fluorescence (C-ANCA) and myeloperoxidase specificity (MPO-ANCA)

Antithyroid and antiadrenal autoantibodies in antiglomerular basement membrane disease, thin basement membrane disease and Alport syndrome

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

Autosomal Dominant Polycystic Kidney Disease: A Path Forward.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

Cardiac injury and troponin testing after orthopaedic surgery.

Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

Clinical associations and characterisation of antineutrophil cytoplasmic antibodies directed against bactericidal/permeability-increasing protein and azurocidin

Detection of autoantibodies to neutrophil cytoplasmic antigens.

Diabetic pyomyositis: an uncommon cause of a painful leg

Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

Does cardiology intervention improve mortality for post-operative troponin elevations after emergency orthopaedic-geriatric surgery? A randomised controlled study

ELISA is the superior method for detecting antineutrophil cytoplasmic antibodies in the diagnosis of systemic necrotising vasculitis.

Evaluation of a multiplex flow cytometric immunoassay to detect PR3- and MPO-ANCA in active and treated vasculitis, and in inflammatory bowel disease (IBD)

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

Hematuria in thin basement membrane nephropathy

Hereditary abnormalities of renal basement membranes.

Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities

Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease

Indirect immunofluorescence (IIF) of normal washed peripheral blood cells to demonstrate antineutrophil cytoplasmic antibodies (ANCA)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Polycystic Liver Disease

KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease

Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.

Microvascular dilatation after haemodialysis is determined by the volume of fluid removed and fall in mean arterial pressure

Microvascular narrowing and BP monitoring: A single centre observational study

Microvascular retinopathy and angiographically-demonstrated coronary artery disease: A cross-sectional, observational study.

Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

Myelodysplasia, vasculitis and anti-neutrophil cytoplasm antibodies.

N-terminal pro-brain natriuretic peptide and angiotensin-converting enzyme-2 levels and their association with postoperative cardiac complications after emergency orthopedic surgery.

NPHS2 variation in focal and segmental glomerulosclerosis

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Opinion: Ocular features aid the diagnosis of Alport syndrome.

Orthopaedic-geriatric models of care and their effectiveness.

Persistent familial hematuria in children and the locus for thin basement membrane nephropathy

Propylthiouracil-induced antineutrophil cytoplasmic antibodies in a patient with Graves' disease and a neutrophilic dermatosis

Pyoderma gangrenosum with secondary pyarthrosis following propylthiouracil

Retinal atrophy associated with FSGS in a patient with MELAS syndrome.

Retinal basement membrane abnormalities and the retinopathy of Alport syndrome

Retinal venular calibre is increased in patients with autoimmune rheumatic disease: a case-control study.

Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome

Stem cell therapy for Alport syndrome: the hope beyond the hype

Testing on formalin-fixed neutrophils is less sensitive and specific for small vessel vasculitis, and less sensitive for MPO-ANCA, than most ELISAs.

The 2014 International Workshop on Alport Syndrome.

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy

The binding of proteinase 3 antineutrophil cytoplasmic antibodies (PR3-ANCA) varies in different ELISAs.

The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms.

The genetics of thin basement membrane nephropathy

The microvasculature in chronic kidney disease.

The retinal "lozenge" or "dull macular reflex" in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure.

The risks of thin basement membrane nephropathy.

The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.

Thin basement membrane nephropathy

Thin basement membrane nephropathy and coincidental renal biopsy lesions

Troponin I and NT-proBNP (N-terminal pro-brain natriuretic peptide) do not predict 6-month mortality in frail older patients undergoing orthopedic surgery.

Two ELISAs to detect anti-neutrophil cytoplasm antibodies (ANCA) in various vasculitides

Vision-threatening retinal abnormalities in chronic kidney disease stages 3 to 5.

What do antineutrophil cytoplasmic antibodies (ANCA) tell us?