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Gill Rumsby

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TOP 3
Sonia Fargue; Jackie Lewin; Gill Rumsby; Christopher J Danpure
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
Pierre Cochat; Christopher J Danpure; Michel Daudon; Mario De Marchi; Sonia Fargue; Jaap Groothoff; Jérôme Harambat; Bernd Hoppe; Sally-Anne Hulton; Neville V Jamieson; Markus J Kemper; Giorgia Mandrile; Martino Marangella; Stefano Picca; Gill Rumsby; Eduardo Salido; Michael Straub; Christiaan S van Woerden; Cécile Acquaviva
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Marta Berra; Emma L Williams; Barbara Muroni; Sarah M Creighton; John W Honour; Gill Rumsby; Gerard S Conway
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.

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All Publications

2013: Sonia Fargue; Jackie Lewin; Gill Rumsby; Christopher J Danpure
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
The Journal of biological chemistry 2013;288(4):2475-84.
2012: Pierre Cochat; Christopher J Danpure; Michel Daudon; Mario De Marchi; Sonia Fargue; Jaap Groothoff; Jérôme Harambat; Bernd Hoppe; Sally-Anne Hulton; Neville V Jamieson; Markus J Kemper; Giorgia Mandrile; Martino Marangella; Stefano Picca; Gill Rumsby; Eduardo Salido; Michael Straub; Christiaan S van Woerden; Cécile Acquaviva
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2012;27(5):1729-36.
2011: Marta Berra; Emma L Williams; Barbara Muroni; Sarah M Creighton; John W Honour; Gill Rumsby; Gerard S Conway
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
European journal of endocrinology / European Federation of Endocrine Societies 2011;164(6):1019-25.
2009: Emma L Williams; Cecile Acquaviva; Antonio Amoroso; Francoise Chevalier; Marion Coulter-Mackie; Carla G Monico; Daniela Giachino; Tricia Owen; Angela Robbiano; Eduardo Salido; Hans Waterham; Gill Rumsby
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Human mutation 2009;30(6):910-7.
2009: Karen L Price; Sally-Anne Hulton; William G Van't Hoff; John R Masters; Gill Rumsby
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.
Urological research 2009;37(3):127-32.
2009: Anna Casteràs; Purnami De Silva; Gill Rumsby; Gerard S Conway
Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate.
Clinical endocrinology 2009;70(6):833-7.
2008: Gill Rumsby
Oxalate transport as contributor to primary hyperoxaluria: the jury is still out.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2008;52(6):1031-4.
2007: Caroline Vignaud; Nicolas Pietrancosta; Emma L Williams; Gill Rumsby; Florence Lederer
Purification and characterization of recombinant human liver glycolate oxidase.
Archives of biochemistry and biophysics 2007;465(2):410-6.
2007: Emma Williams; Gill Rumsby
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Clinical chemistry 2007;53(7):1216-21.
2006: Emma L Williams; Markus J Kemper; Gill Rumsby
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2006;48(3):481-3.
2006: Gill Rumsby
Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006;21(8):2063-4.
2006: Michael P S Booth; Rebecca Conners; Gill Rumsby; R Leo Brady
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.
Journal of molecular biology 2006;360(1):178-89.
2006: Cara Megan Ogilvie; Gill Rumsby; Tom Kurzawinski; Gerard S Conway
Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience.
European journal of endocrinology / European Federation of Endocrine Societies 2006;154(3):405-8.
2006: Joseph T Behnam; Emma L Williams; Susanne Brink; Gill Rumsby; Christopher J Danpure
Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells.
The Biochemical journal 2006;394(Pt 2):409-16.
2006: Gill Rumsby
An introduction to PCR techniques.
Methods in molecular biology (Clifton, N.J.) 2006;324():75-89.
2006: Cara Megan Ogilvie; Naomi S Crouch; Gill Rumsby; Sarah M Creighton; Lih-Mei Liao; Gerard S Conway
Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues.
Clinical endocrinology 2006;64(1):2-11.
2005: Swati Bhat; Emma L Williams; Gill Rumsby
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2.
Clinical chemistry 2005;51(12):2423-5.
2005: K Mdluli; M P S Booth; R Leo Brady; Gill Rumsby
A preliminary account of the properties of recombinant human Glyoxylate reductase (GRHPR), LDHA and LDHB with glyoxylate, and their potential roles in its metabolism.
Biochimica et biophysica acta 2005;1753(2):209-16.
2005: Gill Rumsby
An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.
Urological research 2005;33(5):318-20.
2005: Yaacov Frishberg; Choni Rinat; Adel Shalata; Ihab Khatib; Sofia Feinstein; Rachel Becker-Cohen; Irit Weismann; Ronald J A Wanders; Gill Rumsby; Frank Roels; Hanna Mandel
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
American journal of nephrology 2005;25(3):269-75.
2004: Marion B Coulter-Mackie; Gill Rumsby
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
Molecular genetics and metabolism 2004;83(1-2):38-46.
2004: Gill Rumsby; Emma Williams; Marion B Coulter-Mackie
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Kidney international 2004;66(3):959-63.
2004: Christopher J Danpure; Gill Rumsby
Molecular aetiology of primary hyperoxaluria and its implications for clinical management.
Expert reviews in molecular medicine 2004;6(1):1-16.
2003: David P Cregeen; Emma L Williams; Sally-Anne Hulton; Gill Rumsby
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
Human mutation 2003;22(6):497.
2003: Christian von Schnakenburg; Gill Rumsby; Bernd Hoppe; Kay Latta; Markus Kemper
Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.
Pediatric nephrology (Berlin, Germany) 2003;18(5):482-3; author reply 484.
2002: Chris J Boos; Gill Rumsby; Glenn Matfin
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2002;8(6):470-3.
2002: Sally A Johnson; Gill Rumsby; David P Cregeen; Sally-Anne Hulton
Primary hyperoxaluria type 2 in children.
Pediatric nephrology (Berlin, Germany) 2002;17(8):597-601.
2002: Carla G Monico; Mai Persson; G Charles Ford; Gill Rumsby; Dawn S Milliner
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.
Kidney international 2002;62(2):392-400.
2002: O D Wolthers; Gill Rumsby; K Techatraisak; John W Honour; Peter C Hindmarsh
17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood.
Hormone research 2002;57(3-4):133-6.
2001: Marion B Coulter-Mackie; Gill Rumsby; Derek A Applegarth; Jennifer R Toone
Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.
Molecular genetics and metabolism 2001;74(3):314-21.
2001: Gill Rumsby; A Sharma; David P Cregeen; L R Solomon
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2001;16(8):1697-9.
2001: B Masturzo; Jon Hyett; Karim D Kalache; Gill Rumsby; Eric Jauniaux; Charles H Rodeck
Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.
Prenatal diagnosis 2001;21(4):314-6.
2000: E Williams; David P Cregeen; Gill Rumsby
Identification and expression of a cDNA for human glycolate oxidase.
Biochimica et biophysica acta 2000;1493(1-2):246-8.
2000: William Reardon; A Smith; John W Honour; P Hindmarsh; D Das; Gill Rumsby; I Nelson; Sue Malcolm; L Adès; D Sillence; D Kumar; C DeLozier-Blanchet; S McKee; T Kelly; W L McKeehan; M Baraitser; Robin M Winter
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Journal of medical genetics 2000;37(1):26-32.
1999: David P Cregeen; Gill Rumsby
Recent developments in our understanding of primary hyperoxaluria type 2.
Journal of the American Society of Nephrology : JASN 1999;10 Suppl 14():S348-50.
1999: Gill Rumsby; David P Cregeen
Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase.
Biochimica et biophysica acta 1999;1446(3):383-8.
1999: AL Trewick; Gill Rumsby
Isoelectric focusing of native urinary uromodulin (Tamm-Horsfall protein) shows no physicochemical differences between stone formers and non-stone formers.
Urological research 1999;27(4):250-4.
1998: Gill Rumsby; C J Avey; Gerard S Conway; John W Honour
Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
Clinical endocrinology 1998;48(6):707-11.
1998: C A Skinner; N Yousaf; John W Honour; Gill Rumsby
Characterization of polymorphisms at the 11 beta-hydroxylase (CYP11B1) locus.
Annals of human genetics 1998;62(Pt 2):181-3.
1998: C F Giafi; Gill Rumsby
Primary hyperoxaluria type 2: enzymology.
Journal of nephrology 1998;11 Suppl 1():29-31.
1998: Christian von Schnakenburg; Gill Rumsby
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
Journal of nephrology 1998;11 Suppl 1():15-7.
1998: LS Ostlere; Gill Rumsby; P Holownia; HS Jacobs; M H Rustin; John W Honour
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
Clinical endocrinology 1998;48(2):209-15.
1998: Christian von Schnakenburg; Sally-Anne Hulton; David V Milford; H P Roper; Gill Rumsby
Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene.
Nephron 1998;78(4):485-8.
1998: C F Giafi; Gill Rumsby
Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2.
Annals of clinical biochemistry 1998;35 ( Pt 1)():104-9.
1997: A C Tarn; Christian von Schnakenburg; Gill Rumsby
Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
Journal of inherited metabolic disease 1997;20(5):689-96.
1997: Christian von Schnakenburg; TB Weir; Gill Rumsby
Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1.
Annals of human genetics 1997;61(Pt 4):365-8.
1997: Gill Rumsby; TB Weir; C T Samuell
A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1.
Annals of clinical biochemistry 1997;34 ( Pt 4)():400-4.
1997: Christian von Schnakenburg; Gill Rumsby
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
Journal of medical genetics 1997;34(6):489-92.
1997: K Techatraisak; Gerard S Conway; Gill Rumsby
Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states.
Clinical endocrinology 1997;46(2):131-4.
1997: Bernd Hoppe; Christopher J Danpure; Gill Rumsby; P Fryer; P R Jennings; N Blau; G Schubiger; Thomas J Neuhaus; Ernst Leumann
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity.
American journal of kidney diseases : the official journal of the National Kidney Foundation 1997;29(1):36-44.
1996: Gill Rumsby; A F Massoud; C Avey; C G Brook
Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
Journal of medical genetics 1996;33(9):798-9.
1996: Christopher J Danpure; Gill Rumsby
Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.
Prenatal diagnosis 1996;16(7):587-98.
1996: C A Skinner; Gill Rumsby; John W Honour
Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.
The Journal of clinical endocrinology and metabolism 1996;81(6):2389-93.
1995: D J Holmes-Walker; Gerard S Conway; John W Honour; Gill Rumsby; HS Jacobs
Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical endocrinology 1995;43(3):291-6.
1995: Gill Rumsby; H Mandel; C Avey; A Geraerts
Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1995;10 Suppl 8():30-2.
1994: Gerard S Conway; C Avey; Gill Rumsby
The tyrosine kinase domain of the insulin receptor gene is normal in women with hyperinsulinaemia and polycystic ovary syndrome.
Human reproduction (Oxford, England) 1994;9(9):1681-3.
1994: Christopher J Danpure; G M Birdsey; Gill Rumsby; M J Lumb; P E Purdue; J Allsop
Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.
Human genetics 1994;94(1):55-64.
1994: C A Skinner; Gill Rumsby
Steroid 11 beta-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene.
Human molecular genetics 1994;3(2):377-8.
1993: Gill Rumsby; C Skinner; H A Lee; John W Honour
Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.
Clinical endocrinology 1993;39(4):483-5.
1993: John W Honour; Gill Rumsby
Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Journal of steroid biochemistry and molecular biology 1993;45(1-3):69-74.
1993: Gill Rumsby; John W Honour; Charles Rodeck
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
Clinical endocrinology 1993;38(4):421-5.
1992: Gill Rumsby; R Jones; Christopher J Danpure; CT Samuell
TaqI polymorphism at the alanine:glyoxylate aminotransferase (AGXT) gene locus.
Human molecular genetics 1992;1(5):350.
1992: Gill Rumsby; C Skinner; John W Honour
Genetic analysis of the steroid 21-hydroxylase gene following in vitro amplification of genomic DNA.
The Journal of steroid biochemistry and molecular biology 1992;41(3-8):827-9.
1990: Gill Rumsby; John W Honour
In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.
Journal of medical genetics 1990;27(11):676-8.