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Articles (47)
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Endpoints for Clinical Trials in Primary Hyperoxaluria

Milliner, Dawn S., McGregor, Tracy L., Thompson, Aliza, Dehmel, Bastian, Knight, John, Rosskamp, Ralf, Blank, Melanie, Yang, Sixun, Fargue, Sonia, Rumsby, Gill, Groothoff, Jaap, Allain, Meaghan, West,

Journal:

Clinical Journal of the American Society of Nephrology

Année:

2020

Fichier:

PDF, 910 KB

2020

Molecular basis of primary hyperoxaluria and strategies for diagnosis

Rumsby, Gill

Journal:

Expert Opinion on Orphan Drugs

Année:

2015

Langue:

english

Fichier:

PDF, 411 KB

english, 2015

Effects of alanine:Glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay

Fargue, Sonia, Knight, John, Holmes, R.P., Rumsby, Gill, Danpure, Christopher J.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2016

Langue:

english

Fichier:

PDF, 788 KB

english, 2016

Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia

Hawton, Katherine, Walton-Betancourth, Sandra, Rumsby, Gill, Raine, Joseph, Dattani, Mehul

Journal:

PEDIATRICS

Année:

2017

Langue:

english

Fichier:

PDF, 1.37 MB

english, 2017

Plasma oxalate: comparison of methodologies

Stokes, Felicity, Acquaviva-Bourdain, Cecile, Hoppe, Bernd, Lieske, John C., Lindner, Elisabeth, Toulson, Greg, Vaz, FrÃ©dÃ©ric M., Rumsby, Gill

Journal:

Urolithiasis

Année:

2020

Fichier:

PDF, 671 KB

2020

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2

David P. Cregeen, Emma L. Williams, Sally Hulton, Gill Rumsby

Journal:

Human Mutation

Année:

2003

Langue:

english

Fichier:

PDF, 56 KB

english, 2003

Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II

Monico, Carla G, Persson, Mai, Ford, G Charles, Rumsby, Gill, Milliner, Dawn S

Journal:

Kidney International

Année:

2002

Langue:

english

Fichier:

PDF, 775 KB

english, 2002

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias

Gill Rumsby

Journal:

Urolithiasis

Année:

2005

Langue:

english

Fichier:

PDF, 157 KB

english, 2005

Proceedings of the 8th International Primary Hyperoxaluria Workshop, UCL-Institute of Child Health, 29–30 June 2007

Christopher J. Danpure, Gill Rumsby

Journal:

Urolithiasis

Année:

2007

Langue:

english

Fichier:

PDF, 408 KB

english, 2007

Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria

Karen L. Price, Sally-Anne Hulton, William G. van’t Hoff, John R. Masters, Gill Rumsby

Journal:

Urolithiasis

Année:

2009

Langue:

english

Fichier:

PDF, 506 KB

english, 2009

Isoelectric focusing of native urinary uromodulin (Tamm-Horsfall protein) shows no physicochemical differences between stone formers and non-stone formers

Anne L. Trewick, Gill Rumsby

Journal:

Urolithiasis

Année:

1999

Langue:

english

Fichier:

PDF, 240 KB

english, 1999

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues

Cara Megan Ogilvie, Naomi S. Crouch, Gill Rumsby, Sarah M. Creighton, Lih-Mei Liao, Gerard S. Con Way

Journal:

Clinical Endocrinology

Année:

2006

Langue:

english

Fichier:

PDF, 158 KB

english, 2006

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias1

Rumsby, Gill, Williams, Emma, Coulter-Mackie, Marion

Journal:

Kidney International

Année:

2004

Langue:

english

Fichier:

PDF, 87 KB

english, 2004

Primary hyperoxaluria type 2 in children

Johnson, Sally, Hulton, Sally-Anne, Rumsby, Gill, Cregeen, David

Journal:

Pediatric Nephrology

Année:

2002

Langue:

english

Fichier:

PDF, 59 KB

english, 2002

Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1

Christian von Schnakenburg,Gill Rumsby,Bernd Hoppe,Kay Latta…

Journal:

Pediatric Nephrology

Année:

2003

Langue:

english

Fichier:

PDF, 103 KB

english, 2003

A De Novo Mutation in the AGXT Gene Causing Primary Hyperoxaluria Type 1

Emma L. Williams, Markus J. Kemper, Gill Rumsby

Journal:

American Journal of Kidney Diseases

Année:

2006

Langue:

english

Fichier:

PDF, 84 KB

english, 2006

Oxalate Transport as Contributor to Primary Hyperoxaluria: The Jury Is Still Out

Gill Rumsby

Journal:

American Journal of Kidney Diseases

Année:

2008

Langue:

english

Fichier:

PDF, 109 KB

english, 2008

Purification and characterization of recombinant human liver glycolate oxidase

Caroline Vignaud, Nicolas Pietrancosta, Emma L. Williams, Gill Rumsby, Florence Lederer

Journal:

Archives of Biochemistry and Biophysics

Année:

2007

Langue:

english

Fichier:

PDF, 314 KB

english, 2007

The nature of cardiac calcification in aortic stenosis

Anders Holmgren, Gill Rumsby, Sandra Gustafsson, Ulf Näslund, Michael Y. Henein

Journal:

International Journal of Cardiology

Année:

2012

Langue:

english

Fichier:

PDF, 237 KB

english, 2012

Structural Basis of Substrate Specificity in Human Glyoxylate Reductase/Hydroxypyruvate Reductase

Michael P.S. Booth, R. Conners, Gill Rumsby, R. Leo Brady

Journal:

Journal of Molecular Biology

Année:

2006

Langue:

english

Fichier:

PDF, 604 KB

english, 2006

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis

Marion B. Coulter-Mackie, Gill Rumsby

Journal:

Molecular Genetics and Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 535 KB

english, 2004

Molecular aetiology of primary hyperoxaluria and its implications for clinical management

Danpure, Christopher J., Rumsby, Gill

Journal:

Expert Reviews in Molecular Medicine

Année:

2004

Langue:

english

Fichier:

PDF, 393 KB

english, 2004

Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1

Fargue, Sonia, Rumsby, Gill, Danpure, Christopher J.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2013

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2013

Primary Hyperoxaluria

Ingelfinger, Julie R., Cochat, Pierre, Rumsby, Gill

Journal:

New England Journal of Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 871 KB

english, 2013

Intra-Familial Clinical Heterogeneity: Absence of Genotype-Phenotype Correlation in Primary Hyperoxaluria Type 1 in Israel

Frishberg, Yaacov, Rinat, Choni, Shalata, Adel, Khatib, Ihab, Feinstein, Sofia, Becker-Cohen, Rachel, Weismann, Irit, Wanders, Ronald J.A., Rumsby, Gill, Roels, Frank, Mandel, Hanna

Journal:

American Journal of Nephrology

Année:

2005

Langue:

english

Fichier:

PDF, 138 KB

english, 2005

The Immunoassay Handbook || Growth and Growth Hormone Deficiency

Rumsby, Gill

Année:

2013

Langue:

english

Fichier:

PDF, 173 KB

english, 2013

Chronic kidney disease with three cases of oxalate-like nephrosis in Ragdoll cats

Heiene, Reidun, Rumsby, Gill, Ziener, Martine, Dahl, Stein A., Tims, Christopher, Teige, Jon, Ottesen, Nina

Journal:

Journal of Feline Medicine & Surgery

Année:

2009

Langue:

english

Fichier:

PDF, 390 KB

english, 2009

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

Mandrile, Giorgia, van Woerden, Christiaan S, Berchialla, Paola, Beck, Bodo B, Acquaviva Bourdain, Cécile, Hulton, Sally-Anne, Rumsby, Gill

Journal:

Kidney International

Année:

2014

Langue:

english

Fichier:

PDF, 661 KB

english, 2014

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

Williams, Emma L., Bagg, Eleanor A. L., Mueller, Michael, Vandrovcova, Jana, Aitman, Timothy J., Rumsby, Gill

Journal:

Molecular Genetics & Genomic Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 156 KB

english, 2015

Case 205: Renal Stone Ileus

MacDonald, Lois S., Rumsby, Gill, Lapsia, Snehal

Journal:

Radiology

Année:

2014

Langue:

english

Fichier:

PDF, 750 KB

english, 2014

Case 205

MacDonald, Lois S., Rumsby, Gill, Lapsia, Snehal

Journal:

Radiology

Année:

2014

Langue:

english

Fichier:

PDF, 549 KB

english, 2014

Screening for Mutations in 17 Beta-Hydroxysteroid Dehydrogenase (HSD17B3) and Androgen Receptor (AR) in an Adolescent and Adult 46, XY DSD Clinic

Cardamone, Stefanie, Phelan, Naimh, Williams, Emma L., Lee, Marilyn, Creighton, Sarah M., Rumsby, Gill, Conway, Gerard S.

Journal:

Journal of Pediatric and Adolescent Gynecology

Année:

2015

Langue:

english

Fichier:

PDF, 52 KB

english, 2015

Urine oxalate biological variation in patients with primary hyperoxaluria

Clifford-Mobley, Oliver, Sjögren, Anna, Lindner, Elisabeth, Rumsby, Gill

Journal:

Urolithiasis

Année:

2016

Langue:

english

Fichier:

PDF, 485 KB

english, 2016

Biochemical composition of urolithiasis from stone dust - a matched pair analysis

Ray, Eleanor R, Rumsby, Gill, Smith, R D

Journal:

BJU International

Année:

2016

Langue:

english

Fichier:

PDF, 496 KB

english, 2016

Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells

Behnam, Joseph T., Williams, Emma L., Brink, Susanne, Rumsby, Gill, Danpure, Christopher J.

Journal:

Biochemical Journal

Année:

2006

Langue:

english

Fichier:

PDF, 870 KB

english, 2006

Genetic defects underlying renal stone disease

Rumsby, Gill

Journal:

International Journal of Surgery

Année:

2016

Langue:

english

Fichier:

PDF, 622 KB

english, 2016

Variable Presentation of Primary Hyperoxaluria Type 1 in 2 Patients Homozygous for a Novel Combined Deletion and Insertion Mutation inExon 8 of the AGXT Gene

von Schnakenburg, Christian, Hulton, Sally A., Milford, David V., Roper, Helen P., Rumsby, Gill

Journal:

Nephron

Année:

1998

Langue:

english

Fichier:

PDF, 217 KB

english, 1998

Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria

Clifford-Mobley, Oliver, Rumsby, Gill, Kanodia, Swati, Didi, Mohammed, Holt, Richard, Senniappan, Senthil

Journal:

Pediatric Nephrology

Année:

2017

Langue:

english

Fichier:

PDF, 456 KB

english, 2017

Using Machine Learning to Aid the Interpretation of Urine Steroid Profiles

Wilkes, Edmund H., Rumsby, Gill, Woodward, Gary M.

Journal:

Clinical Chemistry

Année:

2018

Langue:

english

Fichier:

PDF, 2.84 MB

english, 2018

Disorders of Steroidogenesis (Guide to Steroid Profiling and Biochemical Diagnosis) ||

Rumsby, Gill, Woodward, Gary M.

Année:

2019

Langue:

english

Fichier:

PDF, 7.88 MB

english, 2019

Disorders of Steroidogenesis (Guide to Steroid Profiling and Biochemical Diagnosis) || Overview of Adrenal Physiology and Steroid Biochemistry

Rumsby, Gill, Woodward, Gary M.

Année:

2019

Langue:

english

Fichier:

PDF, 702 KB

english, 2019

ANNALS EXPRESS: Rapid LC-MS/MS screening method for urinary metabolites of Primary Hyperoxaluria.

Woodward, Gary, Pryke, Robin, Hoppe, Bernd, Rumsby, Gill

Journal:

Annals of Clinical Biochemistry

Année:

2018

Langue:

english

Fichier:

PDF, 1.57 MB

english, 2018

MULTIPLE TUMORS ASSOCIATED WITH LATE-ONSET CONGENITAL ADRENAL HYPERPLASIA DUE TO ABERRANT SPLICING OF ADRENAL 21-HYDROXYLASE GENE

Boos, Chris J., Rumsby, Gill, Matfin, Glenn

Journal:

Endocrine Practice

Année:

2002

Fichier:

PDF, 77 KB

2002

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

Garrelfs, Sander F., Rumsby, Gill, Peters-Sengers, Hessel, Erger, Florian, Groothoff, Jaap W., Beck, Bodo B., Oosterveld, Michiel J.S., Pelle, Alessandra, Neuhaus, Thomas, Adams, Brigitte, Cochat, Pie

Journal:

Kidney International

Année:

2019

Langue:

english

Fichier:

PDF, 2.44 MB

english, 2019

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

Buonocore, Federica, Clifford-Mobley, Oliver, King, Tom F J, Striglioni, Niccolò, Man, Elim, Suntharalingham, Jenifer P, del Valle, Ignacio, Lin, Lin, Lagos, Carlos F, Rumsby, Gill, Conway, Gerard S,

Journal:

Journal of the Endocrine Society

Année:

2019

Fichier:

PDF, 2.28 MB

2019

Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations

Giri, Dinesh, Bockenhauer, Detlef, Deshpande, Charu, Achermann, JohnÂ C, Taylor, NormanÂ F., Rumsby, Gill, Morgan, Henry, Senniappan, Senthil, Ajzensztejn, Michal

Journal:

Hormone Research in Paediatrics

Année:

2020

Fichier:

PDF, 367 KB

2020

Availability of Assays for Definitive Diagnosis of Primary Hyperoxaluria Types 1 and 2

Rumsby, Gill, Samuell, Colin

Journal:

Clinical Chemistry

Année:

1998

Fichier:

PDF, 244 KB

1998