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Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
Boucher C, Sandford R. Boucher C, et al. Among authors: sandford r. Eur J Hum Genet. 2004 May;12(5):347-54. doi: 10.1038/sj.ejhg.5201162. Eur J Hum Genet. 2004. PMID: 14872199 Review.
Renal genetics and clinical practice: the present and the possible.
Sandford R, Sedor J. Sandford R, et al. Nephron Clin Pract. 2011;118(1):c1-2. doi: 10.1159/000320874. Epub 2010 Nov 11. Nephron Clin Pract. 2011. PMID: 21071967 No abstract available.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Macia MS, et al. Among authors: sandford r. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12. Am J Hum Genet. 2017. PMID: 28089251 Free PMC article.
European ADPKD Forum multidisciplinary position statement on autosomal dominant polycystic kidney disease care: European ADPKD Forum and Multispecialist Roundtable participants.
EAF co-chairs, Harris T, Sandford R; EAF members; Roundtable participants. EAF co-chairs, et al. Among authors: sandford r. Nephrol Dial Transplant. 2018 Apr 1;33(4):563-573. doi: 10.1093/ndt/gfx327. Nephrol Dial Transplant. 2018. PMID: 29309655 Free PMC article.
Epidemiology of patients in England and Wales with autosomal dominant polycystic kidney disease and end-stage renal failure.
Shaw C, Simms RJ, Pitcher D, Sandford R. Shaw C, et al. Among authors: sandford r. Nephrol Dial Transplant. 2014 Oct;29(10):1910-8. doi: 10.1093/ndt/gfu087. Epub 2014 Apr 15. Nephrol Dial Transplant. 2014. PMID: 24737444
Building a network of ADPKD reference centres across Europe: the EuroCYST initiative.
Petzold K, Gansevoort RT, Ong AC, Devuyst O, Rotar L, Eckardt KU, Köttgen A, Pirson Y, Remuzzi G, Sandford R, Tesar V, Ecder T, Chaveau D, Torra R, Budde K, Le Meur Y, Wüthrich RP, Serra AL. Petzold K, et al. Among authors: sandford r. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv26-32. doi: 10.1093/ndt/gfu091. Nephrol Dial Transplant. 2014. PMID: 25165183
A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model.
McEwan P, Bennett Wilton H, Ong ACM, Ørskov B, Sandford R, Scolari F, Cabrera MV, Walz G, O'Reilly K, Robinson P. McEwan P, et al. Among authors: sandford r. BMC Nephrol. 2018 Feb 13;19(1):37. doi: 10.1186/s12882-017-0804-2. BMC Nephrol. 2018. PMID: 29439650 Free PMC article. Clinical Trial.
Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study.
McGovern AP, Jones S, van Vlymen J, Saggar AK, Sandford R, de Lusignan S. McGovern AP, et al. Among authors: sandford r. BMC Nephrol. 2014 Nov 20;15:182. doi: 10.1186/1471-2369-15-182. BMC Nephrol. 2014. PMID: 25412767 Free PMC article.
Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).
Dudley J, Winyard P, Marlais M, Cuthell O, Harris T, Chong J, Sayer J, Gale DP, Moore L, Turner K, Burrows S, Sandford R. Dudley J, et al. Among authors: sandford r. BMC Nephrol. 2019 Apr 30;20(1):148. doi: 10.1186/s12882-019-1285-2. BMC Nephrol. 2019. PMID: 31039757 Free PMC article.
Randomised controlled trial of high versus ad libitum water intake in patients with autosomal dominant polycystic kidney disease: rationale and design of the DRINK feasibility trial.
El-Damanawi R, Lee M, Harris T, Mader LB, Bond S, Pavey H, Sandford RN, Wilkinson IB, Burrows A, Woznowski P, Ben-Shlomo Y, Karet Frankl FE, Hiemstra TF. El-Damanawi R, et al. Among authors: sandford rn. BMJ Open. 2018 May 9;8(5):e022859. doi: 10.1136/bmjopen-2018-022859. BMJ Open. 2018. PMID: 29743334 Free PMC article. Clinical Trial.
The "Determining feasibility of R andomisation to high vs. ad libitum water In take in Polycystic K idney Disease" (DRINK) trial aims to enrol 50 patients with ADPKD, over the age of 16 years with an estimated glomerular filtration rate (eGFR) ≥20 mL/min/1.73 m(2). ...
The "Determining feasibility of R andomisation to high vs. ad libitum water In take in Polycystic K idney Disease" (DRINK) trial aims …
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