FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

William Van't Hoff

Research Profile

Disorders

Living Beings

Concepts & Ideas

Physiology

Chemicals & Drugs

Procedures

DNA Mutational Analysis

Anatomy

Co-author Network

Publications

TOP 3
Emma L Williams; Detlef Bockenhauer; Nikhil Johri; Chris Laing; Manish D Sinha; Robert Unwin; William G Van't Hoff; Adie Viljoen; Gill Rumsby
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Rukshana Shroff; Rachel Shute; William G Van't Hoff; Mandy Wan; David Wells; Helen Aitkenhead; Ambrose Gullett; Craig Knott; Sarah Ledermann; Bahee Manickavasagar; Lesley Rees
Ergocalciferol supplementation in children with CKD delays the onset of secondary hyperparathyroidism: a randomized trial.
Martine T P Besouw; Richard Bowker; Jean-Paul Dutertre; Francesco Emma; William A Gahl; Marcella Greco; Marc R Lilien; John McKiernan; François Nobili; Jerry A Schneider; Flemming Skovby; Lambertus P van den Heuvel; William G Van't Hoff; Elena N Levtchenko
Cysteamine toxicity in patients with cystinosis.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of William Van't Hoff (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Emma L Williams; Detlef Bockenhauer; Nikhil Johri; Chris Laing; Manish D Sinha; Robert Unwin; William G Van't Hoff; Adie Viljoen; Gill Rumsby
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2012;27(8):3191-5.
2012: Rukshana Shroff; Rachel Shute; William G Van't Hoff; Mandy Wan; David Wells; Helen Aitkenhead; Ambrose Gullett; Craig Knott; Sarah Ledermann; Bahee Manickavasagar; Lesley Rees
Ergocalciferol supplementation in children with CKD delays the onset of secondary hyperparathyroidism: a randomized trial.
Clinical journal of the American Society of Nephrology : CJASN 2012;7(2):216-23.
2011: Martine T P Besouw; Richard Bowker; Jean-Paul Dutertre; Francesco Emma; William A Gahl; Marcella Greco; Marc R Lilien; John McKiernan; François Nobili; Jerry A Schneider; Flemming Skovby; Lambertus P van den Heuvel; William G Van't Hoff; Elena N Levtchenko
Cysteamine toxicity in patients with cystinosis.
The Journal of pediatrics 2011;159(6):1004-11.
2011: Joanna Kenny; Melissa M Lees; Nicholas J Lench; Deborah Morrogh; Rodger Palmer; William G Van't Hoff; Jonathan J Waters; Angela Barnicoat; Susan Drury; Detlef Bockenhauer
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Pediatric nephrology (Berlin, Germany) 2011;26(8):1331-4.
2011: Dorothy A Thompson; Sally Feather; Horia C Stanescu; Bernard Freudenthal; Anselm A Zdebik; Richard Warth; Milos Ognjanovic; Sally A Hulton; Evangeline Wassmer; William G Van't Hoff; Isabelle Russell-Eggitt; Angus Dobbie; Eamonn Sheridan; Robert Kleta; Detlef Bockenhauer
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
The Journal of physiology 2011;589(Pt 7):1681-9.
2010: Detlef Bockenhauer; William G Van't Hoff; Mehul T Dattani; A Lehnhardt; M Subtirelu; Friedhelm Hildebrandt; D G Bichet
Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.
Nephron. Physiology 2010;116(4):p23-9.
2010: Detlef Bockenhauer; Michel Bouvier; Billy Breton; Eric Carpentier; Driss Rochdi; William G Van't Hoff; Virginie Bernier; Daniel G Bichet
Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.
Nephron. Physiology 2010;114(1):p1-10.
2009: Olivier Devuyst; Iwan Meij; Xavier Jeunemaitre; Pierre Ronco; Corinne Antignac; Erik I Christensen; Nina V Knoers; Elena N Levtchenko; Peter M Deen; Dominik Müller; Carsten A Wagner; Luca Rampoldi; William G Van't Hoff
EUNEFRON, the European Network for the Study of Orphan Nephropathies.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(7):2011-5.
2009: Detlef Bockenhauer; William G Van't Hoff; Gil Chernin; Saskia F Heeringa; Neil J Sebire
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1.
Pediatric nephrology (Berlin, Germany) 2009;24(7):1399-401.
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: Janette Cansick; Lesley Rees; Geoff Koffman; William G Van't Hoff; Detlef Bockenhauer
A fatal case of cerebral oedema with hyponatraemia and massive polyuria after renal transplantation.
Pediatric nephrology (Berlin, Germany) 2009;24(6):1231-4.
2009: Detlef Bockenhauer; Sally Feather; Horia C Stanescu; Sascha Bandulik; Anselm A Zdebik; Markus Reichold; Jonathan Tobin; Evelyn Lieberer; Christina Sterner; Guida Landoure; Ruchi Arora; Tony Sirimanna; Dorothy Thompson; J Helen Cross; William G Van't Hoff; Omar Al Masri; Kjell Tullus; Stella Yeung; Yair Anikster; Enriko Klootwijk; Mike Hubank; Michael J Dillon; Dirk Heitzmann; Mauricio Arcos-Burgos; Mark A Knepper; Angus Dobbie; William A Gahl; Richard Warth; Eamonn Sheridan; Robert Kleta
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
The New England journal of medicine 2009;360(19):1960-70.
2009: Shazia Adalat; Adrian S Woolf; Karen A Johnstone; Andrea Wirsing; Lorna W Harries; David A Long; Raoul Hennekam; Sarah E Ledermann; Lesley Rees; William G Van't Hoff; Stephen D Marks; Richard S Trompeter; Kjell Tullus; Paul J Winyard; Janette Cansick; Imran Mushtaq; Harjeeta K Dhillon; Coralie Bingham; Emma L Edghill; Rukshana Shroff; Horia Stanescu; Gerhart U Ryffel; Sian Ellard; Detlef Bockenhauer
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
Journal of the American Society of Nephrology : JASN 2009;20(5):1123-31.
2009: Sandro Rossetti; Vickie Kubly; Mark B Consugar; Katharina Hopp; Sushmita Roy; Sharon W Horsley; Dominique Chauveau; Lesley Rees; T Martin Barratt; William G Van't Hoff; Patrick Niaudet; W Patrick Niaudet; Vicente E Torres; Peter C Harris
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney international 2009;75(8):848-55.
2007: Aoife M Waters; Larissa Kerecuk; David Luk; Mushfequr R Haq; Margaret M Fitzpatrick; Rodney David Gilbert; Carol Inward; Caroline Jones; Bruno Pichon; Christopher Reid; M P E Slack; William G Van't Hoff; Michael J Dillon; C Mark Taylor; Kjell Tullus
Hemolytic uremic syndrome associated with invasive pneumococcal disease: the United kingdom experience.
The Journal of pediatrics 2007;151(2):140-4.
2007: Asiri S Abeyagunawardena; Neil J Sebire; R Anthony Risdon; Michael J Dillon; Lesley Rees; William G Van't Hoff; Pallegoda V Kumarasiri; Richard S Trompeter
Predictors of long-term outcome of children with idiopathic focal segmental glomerulosclerosis.
Pediatric nephrology (Berlin, Germany) 2007;22(2):215-21.
2006: Rukshana Shroff; R Hignett; Christine Pierce; S Marks; William G Van't Hoff
Life-threatening hypernatraemic dehydration in breastfed babies.
Archives of disease in childhood 2006;91(12):1025-6.
2006: Dominik Müller; P Jaya Kausalya; Detlef Bockenhauer; Julia Thumfart; Iwan C Meij; Michael J Dillon; William G Van't Hoff; Walter Hunziker
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
The Journal of clinical endocrinology and metabolism 2006;91(8):3076-9.
2006: P J D Winyard; T Bharucha; Rose De Bruyn; Michael J Dillon; William G Van't Hoff; Richard S Trompeter; Ri Liesner; A Wade; L Rees
Perinatal renal venous thrombosis: presenting renal length predicts outcome.
Archives of disease in childhood. Fetal and neonatal edition 2006;91(4):F273-8.
2006: William G Van't Hoff
Hypercalciuria in children with decreased muscle mass--urine calcium : osmolality versus urine calcium : creatinine.
Nature clinical practice. Nephrology 2006;2(6):308-9.
2006: Guido F Laube; Vanita Shah; Victoria C Stewart; Iain P Hargreaves; Mushfequr R Haq; Simon J R Heales; William G Van't Hoff
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells.
Pediatric nephrology (Berlin, Germany) 2006;21(4):503-9.
2006: Detlef Bockenhauer; Lesley Rees; William G Van't Hoff
An association of tubular dysfunction, cortical macrocysts and chronic kidney disease.
Pediatric nephrology (Berlin, Germany) 2006;21(4):580-3.
2005: Amir P Golbang; Meena Murthy; Abbas Hamad; Che-Hsiung Liu; Georgina Cope; William G Van't Hoff; Alan W Cuthbert; Kevin M O'Shaughnessy
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene.
Hypertension 2005;46(2):295-300.
2005: Carla Carasi; William G Van't Hoff; Lesley Rees; R Anthony Risdon; Richard S Trompeter; Michael J Dillon
Childhood thin GBM disease: review of 22 children with family studies and long-term follow-up.
Pediatric nephrology (Berlin, Germany) 2005;20(8):1098-105.
2005: Guido F Laube; Mushfequr R Haq; William G Van't Hoff
Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(2):136-40.
2004: Simon Waller; Tom Kurzawinski; Lewis Spitz; Rajesh Thakker; Treena Cranston; Simon Pearce; Tim Cheetham; William G Van't Hoff
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.
European journal of pediatrics 2004;163(10):589-94.
2004: Guido F Laube; I M Russell-Eggitt; William G Van't Hoff
Early proximal tubular dysfunction in Lowe's syndrome.
Archives of disease in childhood 2004;89(5):479-80.
2004: William G Van't Hoff
Aetiological factors in paediatric urolithiasis.
Nephron. Clinical practice 2004;98(2):c45-8.
2003: Rachel J Middleton; Mark Bradbury; Nicholas Webb; Donal O'Donoghue; William G Van't Hoff
Cystinosis. A clinicopathological conference. "From toddlers to twenties and beyond" Adult-Paediatric Nephrology Interface Meeting, Manchester 2001.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2003;18(12):2492-5.
2003: Simon Waller; Sarah Ledermann; Richard S Trompeter; William G Van't Hoff; Deborah Ridout; Lesley Rees
Catch-up growth with normal parathyroid hormone levels in chronic renal failure.
Pediatric nephrology (Berlin, Germany) 2003;18(12):1236-41.
2003: R J M Coward; C J Peters; Patrick G Duffy; D Corry; MJ Kellett; Simon Choong; William G Van't Hoff
Epidemiology of paediatric renal stone disease in the UK.
Archives of disease in childhood 2003;88(11):962-5.
2003: Asiri S Abeyagunawardena; Michael J Dillon; Lesley Rees; William G Van't Hoff; Richard S Trompeter
The use of steroid-sparing agents in steroid-sensitive nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2003;18(9):919-24.
2003: Guido F Laube; James V Leonard; William G Van't Hoff
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria.
Pediatric nephrology (Berlin, Germany) 2003;18(7):712-3.
2003: Amitava Pahari; Peter J Milla; William G Van't Hoff
Neonatal nephrocalcinosis in association with glucose-galactose malabsorption.
Pediatric nephrology (Berlin, Germany) 2003;18(7):700-2.
2003: Coralie Bingham; Sian Ellard; William G Van't Hoff; H Anne Simmonds; Anthony M Marinaki; Michael K Badman; Peter H Winocour; Amanda Stride; Christopher R Lockwood; Anthony J Nicholls; Katharine R Owen; Ghislaine Spyer; Ewan R Pearson; Andrew T Hattersley
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
Kidney international 2003;63(5):1645-51.
2002: Lynette D Fairbanks; J Stewart Cameron; G Venkat-Raman; S P A Rigden; Lesley Rees; William G Van't Hoff; M Mansell; J Pattison; David Goldsmith; H Anne Simmonds
Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease.
QJM : monthly journal of the Association of Physicians 2002;95(9):597-607.
2002: Mushfequr R Haq; Vasiliki Kalatzis; Marie-Claire Gubler; Margaret M Town; Corinne Antignac; William G Van't Hoff; Adrian S Woolf
Immunolocalization of cystinosin, the protein defective in cystinosis.
Journal of the American Society of Nephrology : JASN 2002;13(8):2046-51.
2001: K M Eastham; Patrick J McKiernan; David V Milford; Pramila Ramani; Jonathan Wyllie; William G Van't Hoff; S A Lynch; Andrew A M Morris
ARC syndrome: an expanding range of phenotypes.
Archives of disease in childhood 2001;85(5):415-20.
2000: Simon Choong; HN Whitfield; Patrick Duffy; MJ Kellett; Peter M Cuckow; William G Van't Hoff; D Corry
The management of paediatric urolithiasis.
BJU international 2000;86(7):857-60.
2000: K Yamamoto; JP Cox; T Friedrich; Paul T Christie; M Bald; P N Houtman; Marta Lapsley; L Patzer; M Tsimaratos; William G Van't Hoff; K Yamaoka; TJ Jentsch; Rajesh V Thakker
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
Journal of the American Society of Nephrology : JASN 2000;11(8):1460-8.
1999: William G Van't Hoff; Patrick J McKiernan; R A Surtees; James V Leonard
Liver transplantation for methylmalonic acidaemia.
European journal of pediatrics 1999;158 Suppl 2():S70-4.
1999: M Attard; G Jean; L Forestier; Stéphanie Cherqui; William G Van't Hoff; Michel Broyer; Corinne Antignac; Margaret M Town
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
Human molecular genetics 1999;8(13):2507-14.
1999: L Patzer; William G Van't Hoff; Vanita Shah; PC Hallson; G P Kasidas; CT Samuell; Rose De Bruyn; TM Barratt; Michael J Dillon
Urinary supersaturation of calcium oxalate and phosphate in patients with X-linked hypophosphatemic rickets and in healthy schoolchildren.
The Journal of pediatrics 1999;135(5):611-7.
1999: L Forestier; G Jean; M Attard; Stéphanie Cherqui; C Lewis; William G Van't Hoff; Michel Broyer; Margaret M Town; Corinne Antignac
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.
American journal of human genetics 1999;65(2):353-9.
1998: William G Van't Hoff
A 15-year-old boy with secondary end-stage renal failure 10 years after his first transplantation became suddenly disoriented 3 days before the planned start of hemodialysis.
Pediatric nephrology (Berlin, Germany) 1998;12(5):433.
1998: MB McBride; S P A Rigden; George B Haycock; Neil Dalton; William G Van't Hoff; Lesley Rees; G Venkat Raman; F Moro; CS Ogg; J Stewart Cameron; H Anne Simmonds
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.
Pediatric nephrology (Berlin, Germany) 1998;12(5):357-64.
1998: Geraldine A McDowell; Margaret M Town; William G Van't Hoff; William A Gahl
Clinical and molecular aspects of nephropathic cystinosis.
Journal of molecular medicine (Berlin, Germany) 1998;76(5):295-302.
1998: Margaret M Town; G Jean; Stéphanie Cherqui; M Attard; L Forestier; Scott A Whitmore; David F Callen; Olivier Gribouval; Michel Broyer; Gillian P Bates; William G Van't Hoff; Corinne Antignac
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Nature genetics 1998;18(4):319-24.
1997: Andrew A M Morris; Simon E Olpin; William G Van't Hoff; A W Johnson; James V Leonard
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1997;20(4):604-5.
1996: G Jean; A Fuchshuber; Margaret M Town; O Gribouval; J A Schneider; Michel Broyer; William G Van't Hoff; Patrick Niaudet; Corinne Antignac
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.
American journal of human genetics 1996;58(3):535-43.
1991: William G Van't Hoff; T Baker; R N Dalton; L C Duke; S P Smith; C Chantler; George B Haycock
Effects of oral phosphocysteamine and rectal cysteamine in cystinosis.
Archives of disease in childhood 1991;66(12):1434-7.