Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 119

1.

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.

BMC Nephrol. 2019 Apr 30;20(1):148. doi: 10.1186/s12882-019-1285-2.

2.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford RN, Snead MP.

Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19.

PMID:
30568244
3.

Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System.

Goode EC, Clark AB, Mells GF, Srivastava B, Spiess K, Gelson WTH, Trivedi PJ, Lynch KD, Castren E, Vesterhus MN, Karlsen TH, Ji SG, Anderson CA, Thorburn D, Hudson M, Heneghan MA, Aldersley MA, Bathgate A, Sandford RN, Alexander GJ, Chapman RW, Walmsley M; UK-PSC Consortium, Hirschfield GM, Rushbrook SM.

Hepatology. 2019 May;69(5):2120-2135. doi: 10.1002/hep.30479. Epub 2019 Mar 4.

4.

Pruritus Is Common and Undertreated in Patients With Primary Biliary Cholangitis in the United Kingdom.

Hegade VS, Mells GF, Fisher H, Kendrick S, DiBello J, Gilchrist K, Alexander GJ, Hirschfield GM, Sandford RN, Jones DEJ; UK-PBC Consortium.

Clin Gastroenterol Hepatol. 2019 Jun;17(7):1379-1387.e3. doi: 10.1016/j.cgh.2018.12.007. Epub 2018 Dec 14.

PMID:
30557739
5.

Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis.

Darlay R, Ayers KL, Mells GF, Hall LS, Liu JZ, Almarri MA, Alexander GJ, Jones DE, Sandford RN, Anderson CA, Cordell HJ.

PLoS Genet. 2018 Dec 3;14(12):e1007833. doi: 10.1371/journal.pgen.1007833. eCollection 2018 Dec.

6.

Agreement of triage decisions between gastroenterologists and nurses in a hospital endoscopy unit.

Inns S, Wong J, McPhedran D, De Guzman G, Broome K, Sim D, Sandford R.

Clin Exp Gastroenterol. 2018 Oct 16;11:399-403. doi: 10.2147/CEG.S159516. eCollection 2018.

7.

Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score.

Carbone M, Nardi A, Flack S, Carpino G, Varvaropoulou N, Gavrila C, Spicer A, Badrock J, Bernuzzi F, Cardinale V, Ainsworth HF, Heneghan MA, Thorburn D, Bathgate A, Jones R, Neuberger JM, Battezzati PM, Zuin M, Taylor-Robinson S, Donato MF, Kirby J, Mitchell-Thain R, Floreani A, Sampaziotis F, Muratori L, Alvaro D, Marzioni M, Miele L, Marra F, Giannini E, Gaudio E, Ronca V, Bonato G, Cristoferi L, Malinverno F, Gerussi A, Stocken DD, Cordell HJ, Hirschfield GM, Alexander GJ, Sandford RN, Jones DE, Invernizzi P, Mells GF; Italian PBC Study Group and the UK–PBC Consortium.

Lancet Gastroenterol Hepatol. 2018 Sep;3(9):626-634. doi: 10.1016/S2468-1253(18)30163-8. Epub 2018 Jul 13.

8.

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.

BMJ Open. 2018 May 9;8(5):e022859. doi: 10.1136/bmjopen-2018-022859.

9.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

PMID:
29654216
10.

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.

BMC Nephrol. 2018 Feb 13;19(1):37. doi: 10.1186/s12882-017-0804-2.

11.

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.

Schon K, Rytina E, Drummond J, Simmonds J, Abbs S, Sandford R, Tischkowitz M.

Clin Exp Dermatol. 2018 Jun;43(4):410-415. doi: 10.1111/ced.13359. Epub 2018 Jan 14.

PMID:
29333623
12.

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.

Nephrol Dial Transplant. 2018 Apr 1;33(4):563-573. doi: 10.1093/ndt/gfx327.

13.

Polycystin-1 inhibits eIF2α phosphorylation and cell apoptosis through a PKR-eIF2α pathway.

Tang Y, Wang Z, Yang J, Zheng W, Chen D, Wu G, Sandford R, Tang J, Chen XZ.

Sci Rep. 2017 Sep 13;7(1):11493. doi: 10.1038/s41598-017-11526-0.

14.

Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

Alberts R, de Vries EMG, Goode EC, Jiang X, Sampaziotis F, Rombouts K, Böttcher K, Folseraas T, Weismüller TJ, Mason AL, Wang W, Alexander G, Alvaro D, Bergquist A, Björkström NK, Beuers U, Björnsson E, Boberg KM, Bowlus CL, Bragazzi MC, Carbone M, Chazouillères O, Cheung A, Dalekos G, Eaton J, Eksteen B, Ellinghaus D, Färkkilä M, Festen EAM, Floreani A, Franceschet I, Gotthardt DN, Hirschfield GM, Hoek BV, Holm K, Hohenester S, Hov JR, Imhann F, Invernizzi P, Juran BD, Lenzen H, Lieb W, Liu JZ, Marschall HU, Marzioni M, Melum E, Milkiewicz P, Müller T, Pares A, Rupp C, Rust C, Sandford RN, Schramm C, Schreiber S, Schrumpf E, Silverberg MS, Srivastava B, Sterneck M, Teufel A, Vallier L, Verheij J, Vila AV, Vries B, Zachou K; International PSC Study Group, The UK PSC Consortium, Chapman RW, Manns MP, Pinzani M, Rushbrook SM, Lazaridis KN, Franke A, Anderson CA, Karlsen TH, Ponsioen CY, Weersma RK.

Gut. 2018 Aug;67(8):1517-1524. doi: 10.1136/gutjnl-2016-313598. Epub 2017 Aug 4.

15.

Patient Survey of current water Intake practices in autosomal dominant Polycystic kidney disease: the SIPs survey.

El-Damanawi R, Harris T, Sandford RN, Karet Frankl FE, Hiemstra TF.

Clin Kidney J. 2017 Jun;10(3):305-309. doi: 10.1093/ckj/sfw153. Epub 2017 Feb 17.

16.

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.

Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA.

Nephrol Dial Transplant. 2017 Dec 1;32(12):1994-1999. doi: 10.1093/ndt/gfx066.

17.

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.

Am J Hum Genet. 2017 Feb 2;100(2):372. doi: 10.1016/j.ajhg.2017.01.025. No abstract available.

18.

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.

Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12. Erratum in: Am J Hum Genet. 2017 Feb 2;100(2):372.

19.

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E, Kumasaka N, Atkinson EJ, Schlicht EM, Liu JZ, Shah T, Gutierrez-Achury J, Boberg KM, Bergquist A, Vermeire S, Eksteen B, Durie PR, Farkkila M, Müller T, Schramm C, Sterneck M, Weismüller TJ, Gotthardt DN, Ellinghaus D, Braun F, Teufel A, Laudes M, Lieb W, Jacobs G, Beuers U, Weersma RK, Wijmenga C, Marschall HU, Milkiewicz P, Pares A, Kontula K, Chazouillères O, Invernizzi P, Goode E, Spiess K, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J, Floreani A, Gulamhusein AF, Eaton JE, Schreiber S, Coltescu C, Bowlus CL, Luketic VA, Odin JA, Chopra KB, Kowdley KV, Chalasani N, Manns MP, Srivastava B, Mells G, Sandford RN, Alexander G, Gaffney DJ, Chapman RW, Hirschfield GM, de Andrade M; UK-PSC Consortium; International IBD Genetics Consortium; International PSC Study Group, Rushbrook SM, Franke A, Karlsen TH, Lazaridis KN, Anderson CA.

Nat Genet. 2017 Feb;49(2):269-273. doi: 10.1038/ng.3745. Epub 2016 Dec 19.

20.

Bulbar dysfunction and aspiration pneumonia due to a brainstem haemangioblastoma: an unusual complication of von Hippel-Lindau disease.

Panayi C, Antoun N, Sandford R.

BMJ Case Rep. 2016 Oct 13;2016. pii: bcr2016217076. doi: 10.1136/bcr-2016-217076.

21.

The inter-relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis.

Dyson JK, Wilkinson N, Jopson L, Mells G, Bathgate A, Heneghan MA, Neuberger J, Hirschfield GM, Ducker SJ; UK-PBC Consortium, Sandford R, Alexander G, Stocken D, Jones DE.

Aliment Pharmacol Ther. 2016 Nov;44(10):1039-1050. doi: 10.1111/apt.13794. Epub 2016 Sep 19.

22.

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

Cordell HJ, Han Y, Mells GF, Li Y, Hirschfield GM, Greene CS, Xie G, Juran BD, Zhu D, Qian DC, Floyd JA, Morley KI, Prati D, Lleo A, Cusi D; Canadian-US PBC Consortium; Italian PBC Genetics Study Group; UK-PBC Consortium, Gershwin ME, Anderson CA, Lazaridis KN, Invernizzi P, Seldin MF, Sandford RN, Amos CI, Siminovitch KA.

Nat Commun. 2015 Sep 22;6:8019. doi: 10.1038/ncomms9019.

23.

Dual Antiplatelet Therapy Prior to Expedited Carotid Surgery Reduces Recurrent Events Prior to Surgery without Significantly Increasing Peri-operative Bleeding Complications.

Batchelder A, Hunter J, Cairns V, Sandford R, Munshi A, Naylor AR.

Eur J Vasc Endovasc Surg. 2015 Oct;50(4):412-9. doi: 10.1016/j.ejvs.2015.07.019. Epub 2015 Aug 14.

24.

The UK-PBC risk scores: Derivation and validation of a scoring system for long-term prediction of end-stage liver disease in primary biliary cholangitis.

Carbone M, Sharp SJ, Flack S, Paximadas D, Spiess K, Adgey C, Griffiths L, Lim R, Trembling P, Williamson K, Wareham NJ, Aldersley M, Bathgate A, Burroughs AK, Heneghan MA, Neuberger JM, Thorburn D, Hirschfield GM, Cordell HJ, Alexander GJ, Jones DE, Sandford RN, Mells GF; UK-PBC Consortium.

Hepatology. 2016 Mar;63(3):930-50. doi: 10.1002/hep.28017. Epub 2015 Oct 20.

PMID:
26223498
25.

Vascular Endothelial Growth Factor C for Polycystic Kidney Diseases.

Huang JL, Woolf AS, Kolatsi-Joannou M, Baluk P, Sandford RN, Peters DJ, McDonald DM, Price KL, Winyard PJ, Long DA.

J Am Soc Nephrol. 2016 Jan;27(1):69-77. doi: 10.1681/ASN.2014090856. Epub 2015 Jun 2.

26.

Administering questionnaires to older people: rigid adherence to protocol may deny and disacknowledge emotional expression.

de Vries K, Leppa CJ, Sandford R, Vydelingum V.

J Aging Stud. 2014 Dec;31:132-8. doi: 10.1016/j.jaging.2014.09.005. Epub 2014 Oct 6.

PMID:
25456630
27.

Pathogenic uromodulin mutations result in premature intracellular polymerization.

Stewart AP, Sandford RN, Karet Frankl FE, Edwardson JM.

FEBS Lett. 2015 Jan 2;589(1):89-93. doi: 10.1016/j.febslet.2014.11.029. Epub 2014 Nov 29.

28.

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.

BMC Nephrol. 2014 Nov 20;15:182. doi: 10.1186/1471-2369-15-182.

29.

NOS3 as a potential modifier of ADPKD phenotypic variability: progress towards an answer.

Mallett A, Sandford R.

Nephrology (Carlton). 2014 Dec;19(12):733-4. doi: 10.1111/nep.12331. No abstract available.

PMID:
25403989
30.

Development Of A Model To Predict Disease Progression In Autosomal Dominant Polycystic Kidney Disease (ADPKD).

McEwan P, Bennett Wilton H, Robinson P, Hadimeri H, Ong A, Ørskov B, Peces R, Sandford R, Scolari F, Walz G, Woon C, O'Reilly K.

Value Health. 2014 Nov;17(7):A564. doi: 10.1016/j.jval.2014.08.1870. Epub 2014 Oct 26. No abstract available.

31.

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.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv26-32. doi: 10.1093/ndt/gfu091. Erratum in: Nephrol Dial Transplant. 2014 Dec;29(12):2353.

32.

A high-resolution structure of the EF-hand domain of human polycystin-2.

Allen MD, Qamar S, Vadivelu MK, Sandford RN, Bycroft M.

Protein Sci. 2014 Sep;23(9):1301-8. doi: 10.1002/pro.2513. Epub 2014 Jul 22.

33.

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.

Nephrol Dial Transplant. 2014 Oct;29(10):1910-8. doi: 10.1093/ndt/gfu087. Epub 2014 Apr 15.

PMID:
24737444
34.

Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis.

Carbone M, Lleo A, Sandford RN, Invernizzi P.

Eur J Immunol. 2014 Apr;44(4):945-54. doi: 10.1002/eji.201344270. Epub 2014 Feb 27. Review.

35.

What is the best option for elective repair of an abdominal aortic aneurysm in a young fit patient?

Sandford RM, Choke E, Bown MJ, Sayers RD.

Eur J Vasc Endovasc Surg. 2014 Jan;47(1):13-8. doi: 10.1016/j.ejvs.2013.09.014. Epub 2013 Sep 19.

36.

Polycystin-2 induces a conformational change in polycystin-1.

Oatley P, Talukder MM, Stewart AP, Sandford R, Edwardson JM.

Biochemistry. 2013 Aug 6;52(31):5280-7. doi: 10.1021/bi400233e. Epub 2013 Jul 24.

PMID:
23848298
37.

Export of dissolved organic carbon and nitrate from grassland in winter using high temporal resolution, in situ UV sensing.

Sandford RC, Hawkins JM, Bol R, Worsfold PJ.

Sci Total Environ. 2013 Jul 1;456-457:384-91. doi: 10.1016/j.scitotenv.2013.02.078. Epub 2013 Apr 30.

PMID:
23628487
38.

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM, Doncheva NT, Andreassen OA, Weersma RK, Weismüller TJ, Eksteen B, Invernizzi P, Hirschfield GM, Gotthardt DN, Pares A, Ellinghaus D, Shah T, Juran BD, Milkiewicz P, Rust C, Schramm C, Müller T, Srivastava B, Dalekos G, Nöthen MM, Herms S, Winkelmann J, Mitrovic M, Braun F, Ponsioen CY, Croucher PJ, Sterneck M, Teufel A, Mason AL, Saarela J, Leppa V, Dorfman R, Alvaro D, Floreani A, Onengut-Gumuscu S, Rich SS, Thompson WK, Schork AJ, Næss S, Thomsen I, Mayr G, König IR, Hveem K, Cleynen I, Gutierrez-Achury J, Ricaño-Ponce I, van Heel D, Björnsson E, Sandford RN, Durie PR, Melum E, Vatn MH, Silverberg MS, Duerr RH, Padyukov L, Brand S, Sans M, Annese V, Achkar JP, Boberg KM, Marschall HU, Chazouillères O, Bowlus CL, Wijmenga C, Schrumpf E, Vermeire S, Albrecht M; UK-PSCSC Consortium, Rioux JD, Alexander G, Bergquist A, Cho J, Schreiber S, Manns MP, Färkkilä M, Dale AM, Chapman RW, Lazaridis KN; International PSC Study Group, Franke A, Anderson CA, Karlsen TH; International IBD Genetics Consortium.

Nat Genet. 2013 Jun;45(6):670-5. doi: 10.1038/ng.2616. Epub 2013 Apr 21.

39.

Impact of primary biliary cirrhosis on perceived quality of life: the UK-PBC national study.

Mells GF, Pells G, Newton JL, Bathgate AJ, Burroughs AK, Heneghan MA, Neuberger JM, Day DB, Ducker SJ, Sandford RN, Alexander GJ, Jones DE; UK-PBC Consortium.

Hepatology. 2013 Jul;58(1):273-83. doi: 10.1002/hep.26365.

PMID:
23471852
40.

The impact of liver transplantation on the phenotype of primary biliary cirrhosis patients in the UK-PBC cohort.

Pells G, Mells GF, Carbone M, Newton JL, Bathgate AJ, Burroughs AK, Heneghan MA, Neuberger JM, Day DB, Ducker SJ; UK-PBC Consortium, Sandford RN, Alexander GJ, Jones DE.

J Hepatol. 2013 Jul;59(1):67-73. doi: 10.1016/j.jhep.2013.02.019. Epub 2013 Mar 4.

PMID:
23466308
41.

Calcineurin inhibitors and the IL12A locus influence risk of recurrent primary biliary cirrhosis after liver transplantation.

Carbone M, Mells GF, Alexander GJ, Westbrook RH, Heneghan MA, Sandford RN, Neuberger JM.

Am J Transplant. 2013 Apr;13(4):1110-1111. doi: 10.1111/ajt.12132. Epub 2013 Feb 22. No abstract available.

42.

Does activity-related social support differ by characteristics of the adolescent?

Edwardson CL, Gorely T, Musson H, Duncombe R, Sandford R.

J Phys Act Health. 2014 Mar;11(3):574-80. doi: 10.1123/jpah.2012-0054. Epub 2013 Feb 8.

PMID:
23416612
43.

Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).

Khonsari RH, Ohazama A, Raouf R, Kawasaki M, Kawasaki K, Porntaveetus T, Ghafoor S, Hammond P, Suttie M, Odri GA, Sandford RN, Wood JN, Sharpe PT.

Hum Mol Genet. 2013 May 1;22(9):1873-85. doi: 10.1093/hmg/ddt041. Epub 2013 Feb 5.

PMID:
23390131
44.

Sex and age are determinants of the clinical phenotype of primary biliary cirrhosis and response to ursodeoxycholic acid.

Carbone M, Mells GF, Pells G, Dawwas MF, Newton JL, Heneghan MA, Neuberger JM, Day DB, Ducker SJ; UK PBC Consortium, Sandford RN, Alexander GJ, Jones DE.

Gastroenterology. 2013 Mar;144(3):560-569.e7; quiz e13-4. doi: 10.1053/j.gastro.2012.12.005. Epub 2012 Dec 12.

PMID:
23246637
45.

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

Liu JZ, Almarri MA, Gaffney DJ, Mells GF, Jostins L, Cordell HJ, Ducker SJ, Day DB, Heneghan MA, Neuberger JM, Donaldson PT, Bathgate AJ, Burroughs A, Davies MH, Jones DE, Alexander GJ, Barrett JC, Sandford RN, Anderson CA; UK Primary Biliary Cirrhosis (PBC) Consortium; Wellcome Trust Case Control Consortium 3.

Nat Genet. 2012 Oct;44(10):1137-41. doi: 10.1038/ng.2395. Epub 2012 Sep 9.

46.

Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

Robinson C, Hiemstra TF, Spencer D, Waller S, Daboo L, Karet Frankl FE, Sandford RN.

BMC Nephrol. 2012 Aug 3;13:79. doi: 10.1186/1471-2369-13-79.

47.

Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis.

Srivastava B, Mells GF, Cordell HJ, Muriithi A, Brown M, Ellinghaus E, Franke A; UK-PSC Consortium, Karlsen TH, Sandford RN, Alexander GJ, Chapman RW, Rushbrook SM, Melum E.

Scand J Gastroenterol. 2012 Jul;47(7):820-6. doi: 10.3109/00365521.2012.682090. Epub 2012 May 4.

PMID:
22554193
48.

Somatic mosaicism and the phenotypic expression of COL2A1 mutations.

Nagendran S, Richards AJ, McNinch A, Sandford RN, Snead MP.

Am J Med Genet A. 2012 May;158A(5):1204-7. doi: 10.1002/ajmg.a.35303. Epub 2012 Apr 11.

PMID:
22496037
49.

Atomic force microscopy imaging reveals the domain structure of polycystin-1.

Oatley P, Stewart AP, Sandford R, Edwardson JM.

Biochemistry. 2012 Apr 3;51(13):2879-88. doi: 10.1021/bi300134b. Epub 2012 Mar 19.

PMID:
22409330
50.

Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure.

Smith GD, Robinson C, Stewart AP, Edwards EL, Karet HI, Norden AG, Sandford RN, Karet Frankl FE.

Clin J Am Soc Nephrol. 2011 Dec;6(12):2766-74. doi: 10.2215/CJN.06820711. Epub 2011 Oct 27.

Supplemental Content

Loading ...
Support Center