List of works - Judy Savige

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.

scientific article published on 12 December 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

scientific article

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

scientific article published on 29 May 2012

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

scientific article

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

scientific article published on 01 April 1998

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

scientific article published on 01 April 1994

Anti-neutrophil cytoplasmic antibodies associated with atrial myxoma

scientific article published on 01 November 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

scientific article published on 01 February 1998

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

scientific article

Autosomal Dominant Polycystic Kidney Disease: A Path Forward.

scientific article

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

scientific article published on 19 September 2013

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

scientific article (publication date: August 2001)

Cardiac injury and troponin testing after orthopaedic surgery.

scientific article published on September 2011

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

scientific article published on 27 October 2006

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

scientific article published on 2 November 2013

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

scientific article published on 01 January 2000

Detection of autoantibodies to neutrophil cytoplasmic antigens.

scientific article published on August 1995

Diabetic pyomyositis: an uncommon cause of a painful leg

scientific article published on 01 July 2004

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

scientific article published on 10 January 2007

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

scientific article published on 26 April 2012

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

scientific article published in August 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)

scientific article published on 25 April 2008

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

scientific article published on 24 January 2013

Hematuria in thin basement membrane nephropathy

scientific article

Hereditary abnormalities of renal basement membranes.

scientific article published on October 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

scientific article published in 2022

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

scientific article

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

scientific article (publication date: October 2000)

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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.

scientific article published on February 2011

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

scientific article

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.

scientific article

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

scientific article published on 03 June 2014

Myelodysplasia, vasculitis and anti-neutrophil cytoplasm antibodies.

scientific article

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

scientific article published on 28 February 2012

NPHS2 variation in focal and segmental glomerulosclerosis

scientific article

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

scientific article published on 10 January 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.

scientific article

Opinion: Ocular features aid the diagnosis of Alport syndrome.

scientific article published on June 2009

Orthopaedic-geriatric models of care and their effectiveness.

scientific article published on December 2009

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

scientific article published on 19 October 2005

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

scientific article published on 01 November 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.

scientific article published in July 2008

Retinal basement membrane abnormalities and the retinopathy of Alport syndrome

scientific article

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

scientific article published in June 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

scientific article published on 25 December 2008

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

scientific article published on 26 September 2008

The 2014 International Workshop on Alport Syndrome.

scientific article published on 2 July 2014

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

scientific article published in 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.

scientific article published on March 2004

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

scientific article published on 13 July 2017

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

scientific article published on 19 November 2008

The genetics of thin basement membrane nephropathy

scientific article

The microvasculature in chronic kidney disease.

scientific article

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

scientific article published on 19 November 2008

The risks of thin basement membrane nephropathy.

scientific article

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

scientific article

Thin basement membrane nephropathy

scientific article (publication date: October 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.

scientific article published on July 2010

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

scientific article published on 01 October 1989

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

scientific article

What do antineutrophil cytoplasmic antibodies (ANCA) tell us?

scientific article

List of works by 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?