Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 133

1.

Long-term outcome in inherited nephrogenic diabetes insipidus.

Sharma S, Ashton E, Iancu D, Arthus MF, Hayes W, Van't Hoff W, Kleta R, Bichet DG, Bockenhauer D.

Clin Kidney J. 2018 Apr 13;12(2):180-187. doi: 10.1093/ckj/sfy027. eCollection 2019 Apr.

2.

Plasma electrolyte imbalance in pediatric kidney transplant recipients.

Hayes W, Longley C, Scanlon N, Bryant W, Stojanovic J, Kessaris N, Van't Hoff W, Bockenhauer D, Marks SD.

Pediatr Transplant. 2019 Jun;23(4):e13411. doi: 10.1111/petr.13411. Epub 2019 Apr 11.

PMID:
30973673
3.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.

Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.

4.

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, Kleta R, Van't Hoff W, Bockenhauer D.

Clin Kidney J. 2018 Jun;11(3):302-309. doi: 10.1093/ckj/sfx118. Epub 2017 Nov 10.

5.

Burosumab Therapy in Children with X-Linked Hypophosphatemia.

Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA.

N Engl J Med. 2018 May 24;378(21):1987-1998. doi: 10.1056/NEJMoa1714641.

6.

CONTRACT Study - CONservative TReatment of Appendicitis in Children (feasibility): study protocol for a randomised controlled Trial.

Hutchings N, Wood W, Reading I, Walker E, Blazeby JM, Van't Hoff W, Young B, Crawley EM, Eaton S, Chorozoglou M, Sherratt FC, Beasant L, Corbett H, Stanton MP, Grist S, Dixon E, Hall NJ.

Trials. 2018 Mar 2;19(1):153. doi: 10.1186/s13063-018-2520-z.

7.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D.

Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.

PMID:
29398133
8.

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA.

J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14.

9.

The orthopaedic management of lower limb deformity in hypophosphataemic rickets.

Horn A, Wright J, Bockenhauer D, Van't Hoff W, Eastwood DM.

J Child Orthop. 2017 Aug 1;11(4):298-305. doi: 10.1302/1863-2548.11.170003.

10.

Fainting Fanconi syndrome clarified by proxy: a case report.

Walsh SB, Unwin R, Kleta R, Van't Hoff W, Bass P, Hussain K, Ellard S, Bockenhauer D.

BMC Nephrol. 2017 Jul 11;18(1):230. doi: 10.1186/s12882-017-0649-8.

11.

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.

Issler N, Dufek S, Kleta R, Bockenhauer D, Smeulders N, Van't Hoff W.

BMC Nephrol. 2017 Apr 18;18(1):136. doi: 10.1186/s12882-017-0505-x.

12.

Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children.

Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D.

Pediatr Nephrol. 2017 Jun;32(6):1095. doi: 10.1007/s00467-017-3631-6. No abstract available.

PMID:
28258487
13.

Clinical and molecular aspects of distal renal tubular acidosis in children.

Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D.

Pediatr Nephrol. 2017 Jun;32(6):987-996. doi: 10.1007/s00467-016-3573-4. Epub 2017 Feb 10. Erratum in: Pediatr Nephrol. 2017 Jun;32(6):1095.

PMID:
28188436
14.

Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant.

Dufek S, Booth C, Carroll A, Van't Hoff W, Kleta R, Bockenhauer D.

Acta Paediatr. 2017 Mar;106(3):513-515. doi: 10.1111/apa.13697. Epub 2017 Jan 4. No abstract available.

PMID:
27935121
15.

A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.

Hoppe B, Niaudet P, Salomon R, Harambat J, Hulton SA, Van't Hoff W, Moochhala SH, Deschênes G, Lindner E, Sjögren A, Cochat P.

Pediatr Nephrol. 2017 May;32(5):781-790. doi: 10.1007/s00467-016-3553-8. Epub 2016 Dec 6.

PMID:
27924398
16.

Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV.

Plumb LA, Van't Hoff W, Kleta R, Reid C, Ashton E, Samuels M, Bockenhauer D.

Lancet. 2016 Aug 6;388(10044):631-2. doi: 10.1016/S0140-6736(16)00087-8. No abstract available. Erratum in: Lancet. 2016 Aug 27;388(10047):870.

PMID:
27511787
17.

An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1.

Khorsandi SE, Samyn M, Hassan A, Vilca-Melendez H, Waller S, Shroff R, Koffman G, Van't Hoff W, Baker A, Dhawan A, Heaton N.

Pediatr Transplant. 2016 Jun;20(4):523-9. doi: 10.1111/petr.12705. Epub 2016 Apr 8.

PMID:
27061278
18.

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants.

Marx-Berger D, Milford DV, Bandhakavi M, Van't Hoff W, Kleta R, Dattani M, Bockenhauer D.

Acta Paediatr. 2016 Jul;105(7):e334-7. doi: 10.1111/apa.13415. Epub 2016 Apr 14.

PMID:
27028950
19.

Clinical Trial Decisions in Difficult Circumstances: Parental Consent Under Time Pressure.

Jansen-van der Weide MC, Caldwell PH, Young B, de Vries MC, Willems DL, Van't Hoff W, Woolfall K, van der Lee JH, Offringa M.

Pediatrics. 2015 Oct;136(4):e983-92. doi: 10.1542/peds.2014-3402.

20.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV.

Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16.

21.

Surgical treatment of children with hyperparathyroidism: single centre experience.

Alagaratnam S, Brain C, Spoudeas H, Dattani MT, Hindmarsh P, Allgrove J, Van't Hoff W, Kurzawinski TR.

J Pediatr Surg. 2014 Nov;49(11):1539-43. doi: 10.1016/j.jpedsurg.2014.05.032. Epub 2014 Aug 27.

PMID:
25475790
22.

StaR Child Health: developing evidence-based guidance for the design, conduct and reporting of paediatric trials.

Van't Hoff W, Offringa M; Star Child Health group (http://www.starchildhealth.org).

Arch Dis Child. 2015 Feb;100(2):189-92. doi: 10.1136/archdischild-2012-303094. Epub 2014 Sep 26. Review.

PMID:
25260517
23.

Iontophoretic transdermal sampling of iohexol as a non-invasive tool to assess glomerular filtration rate.

Djabri A, van't Hoff W, Brock P, Wong IC, Guy RH, Delgado-Charro MB.

Pharm Res. 2015 Feb;32(2):590-603. doi: 10.1007/s11095-014-1488-y. Epub 2014 Sep 5.

PMID:
25190007
24.

Nephropathic cystinosis: an international consensus document.

Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. doi: 10.1093/ndt/gfu090.

25.

Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia.

Manickavasagar B, McArdle AJ, Yadav P, Shaw V, Dixon M, Blomhoff R, Connor GO, Rees L, Ledermann S, Van't Hoff W, Shroff R.

Pediatr Nephrol. 2015 Feb;30(2):317-25. doi: 10.1007/s00467-014-2916-2. Epub 2014 Aug 15.

26.

Guidance on clinical research involving infants, children and young people: an update for researchers and research ethics committees.

Modi N, Vohra J, Preston J, Elliott C, Van't Hoff W, Coad J, Gibson F, Partridge L, Brierley J, Larcher V, Greenough A; Working Party of the Royal College of Paediatrics and Child Health.

Arch Dis Child. 2014 Oct;99(10):887-91. doi: 10.1136/archdischild-2014-306444. Epub 2014 Jun 9. No abstract available.

PMID:
24914095
27.

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.

Kari JA, Montini G, Bockenhauer D, Brennan E, Rees L, Trompeter RS, Tullus K, Van't Hoff W, Waters A, Ashton E, Lench N, Sebire NJ, Marks SD.

Pediatr Nephrol. 2014 Nov;29(11):2173-80. doi: 10.1007/s00467-014-2856-x. Epub 2014 Jun 6.

28.

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

Glover M, Ware JS, Henry A, Wolley M, Walsh R, Wain LV, Xu S, Van't Hoff WG, Tobin MD, Hall IP, Cook S, Gordon RD, Stowasser M, O'Shaughnessy KM.

Clin Sci (Lond). 2014 May;126(10):721-6. doi: 10.1042/CS20130326.

29.

Progressive destructive bone changes in patients with cystinosis.

Klusmann M, Van't Hoff W, Monsell F, Offiah AC.

Skeletal Radiol. 2013 Sep 28. [Epub ahead of print]

PMID:
24077756
30.

NIHR Medicines for Children Research Network: improving children's health through clinical research.

Rose AC, Van't Hoff W, Beresford MW, Tansey SP.

Expert Rev Clin Pharmacol. 2013 Sep;6(5):581-7. doi: 10.1586/17512433.2013.831531. Review.

PMID:
24070097
31.

Standard 1: consent and recruitment.

Caldwell PH, Dans L, de Vries MC, Newman Ba Hons J, Sammons H, Spriggs M Bioeth M, Tambe P, Van't Hoff W, Woolfall K, Young B, Offringa M; StaR Child Health Group.

Pediatrics. 2012 Jun;129 Suppl 3:S118-23. doi: 10.1542/peds.2012-0055D. Review. No abstract available.

PMID:
22661757
32.

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

Williams EL, Bockenhauer D, van't Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G.

Nephrol Dial Transplant. 2012 Aug;27(8):3191-5. doi: 10.1093/ndt/gfs039. Epub 2012 Mar 5.

PMID:
22391140
33.

Novel OCRL mutations in patients with Dent-2 disease.

Böckenhauer D, Bökenkamp A, Nuutinen M, Unwin R, Van't Hoff W, Sirimanna T, Vrljicak K, Ludwig M.

J Pediatr Genet. 2012 Mar;1(1):15-23. doi: 10.3233/PGE-2012-005.

34.

Ergocalciferol supplementation in children with CKD delays the onset of secondary hyperparathyroidism: a randomized trial.

Shroff R, Wan M, Gullett A, Ledermann S, Shute R, Knott C, Wells D, Aitkenhead H, Manickavasagar B, van't Hoff W, Rees L.

Clin J Am Soc Nephrol. 2012 Feb;7(2):216-23. doi: 10.2215/CJN.04760511. Epub 2012 Jan 19.

35.

A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.

Bockenhauer D, Penney MD, Hampton D, van't Hoff W, Gullett A, Sailesh S, Bichet DG.

Am J Kidney Dis. 2012 Apr;59(4):566-8. doi: 10.1053/j.ajkd.2011.09.026. Epub 2011 Dec 9.

PMID:
22154540
36.

Extending the clinical research network approach to all of healthcare.

Darbyshire J, Sitzia J, Cameron D, Ford G, Littlewood S, Kaplan R, Johnston D, Matthews D, Holloway J, Chaturvedi N, Morgan C, Riley A, Rossor M, Kotting P, McKeith I, Smye S, Gower J, Brown V, Smyth R, Poustie V, van't Hoff W, Wallace P, Ellis T, Wykes T, Burns S, Rosenberg W, Lester N, Stead M, Potts V, Johns C, Campbell H, Hamilton R, Sheffield J, Selby P.

Ann Oncol. 2011 Nov;22 Suppl 7:vii36-vii43. doi: 10.1093/annonc/mdr424.

PMID:
22039143
37.

Cysteamine toxicity in patients with cystinosis.

Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, Lilien MR, McKiernan J, Nobili F, Schneider JA, Skovby F, van den Heuvel LP, Van't Hoff WG, Levtchenko EN.

J Pediatr. 2011 Dec;159(6):1004-11. doi: 10.1016/j.jpeds.2011.05.057. Epub 2011 Jul 23.

PMID:
21784456
38.

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, Palmer R, Morrogh D, Waters JJ, Lench NJ, Bockenhauer D.

Pediatr Nephrol. 2011 Aug;26(8):1331-4. doi: 10.1007/s00467-011-1884-z. Epub 2011 May 20.

PMID:
21597970
39.

A patient with polyuria and hydronephrosis: question.

Jaureguiberry G, Van't Hoff W, Mushtaq I, Desai D, Mann NP, Kleta R, Bichet DG, Bockenhauer D.

Pediatr Nephrol. 2011 Nov;26(11):1977-8, 1979-80. doi: 10.1007/s00467-011-1780-6. Epub 2011 Feb 8. No abstract available.

PMID:
21301887
40.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

Thompson DA, Feather S, Stanescu HC, Freudenthal B, Zdebik AA, Warth R, Ognjanovic M, Hulton SA, Wassmer E, van't Hoff W, Russell-Eggitt I, Dobbie A, Sheridan E, Kleta R, Bockenhauer D.

J Physiol. 2011 Apr 1;589(Pt 7):1681-9. doi: 10.1113/jphysiol.2010.198531. Epub 2011 Feb 7.

41.

Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.

Bockenhauer D, van't Hoff W, Dattani M, Lehnhardt A, Subtirelu M, Hildebrandt F, Bichet DG.

Nephron Physiol. 2010;116(4):p23-9. doi: 10.1159/000320117. Epub 2010 Aug 20.

42.

Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.

Bockenhauer D, Carpentier E, Rochdi D, van't Hoff W, Breton B, Bernier V, Bouvier M, Bichet DG.

Nephron Physiol. 2010;114(1):p1-10. doi: 10.1159/000245059. Epub 2009 Oct 8.

PMID:
19816050
43.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R.

N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.

44.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23.

45.

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

Price KL, Hulton SA, van't Hoff WG, Masters JR, Rumsby G.

Urol Res. 2009 Jun;37(3):127-32. doi: 10.1007/s00240-009-0185-5. Epub 2009 Mar 13.

PMID:
19283374
46.

EUNEFRON, the European Network for the Study of Orphan Nephropathies.

Devuyst O, Meij I, Jeunemaitre X, Ronco P, Antignac C, Christensen EI, Knoers NV, Levtchenko EN, Deen PM, Müller D, Wagner CA, Rampoldi L, van't Hoff WG; EUNEFRON consortium.

Nephrol Dial Transplant. 2009 Jul;24(7):2011-5. doi: 10.1093/ndt/gfp095. Epub 2009 Mar 4. No abstract available.

47.

Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1.

Bockenhauer D, van't Hoff W, Chernin G, Heeringa SF, Sebire NJ.

Pediatr Nephrol. 2009 Jul;24(7):1399-401. doi: 10.1007/s00467-009-1135-8. Epub 2009 Feb 11.

PMID:
19205749
48.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Rossetti S, Kubly VJ, Consugar MB, Hopp K, Roy S, Horsley SW, Chauveau D, Rees L, Barratt TM, van't Hoff WG, Niaudet P, Torres VE, Harris PC.

Kidney Int. 2009 Apr;75(8):848-55. doi: 10.1038/ki.2008.686. Epub 2009 Jan 21. Erratum in: Kidney Int. 2009 Jun;75(12):1359. Kidney Int. 2010 Feb;77(4):368. Niaudet, W Patrick [corrected to Niaudet, Patrick]. Erratum in: Kidney Int. 2009 Jun 2;75(12):1359.

49.

A fatal case of cerebral oedema with hyponatraemia and massive polyuria after renal transplantation.

Cansick J, Rees L, Koffman G, Van't Hoff W, Bockenhauer D.

Pediatr Nephrol. 2009 Jun;24(6):1231-4. doi: 10.1007/s00467-008-1100-y. Epub 2009 Jan 20.

PMID:
19153773
50.

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M.

Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14.

Supplemental Content

Loading ...
Support Center