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Items: 1 to 50 of 138

1.

The Molecular Genetics of Gordon Syndrome.

Mabillard H, Sayer JA.

Genes (Basel). 2019 Nov 29;10(12). pii: E986. doi: 10.3390/genes10120986. Review.

2.

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn RA, Waryah AM, Ahmed ZM.

Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4811-4819. doi: 10.1167/iovs.19-27263.

PMID:
31743939
3.

Healthcare recommendations for Joubert syndrome.

Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D.

Am J Med Genet A. 2019 Nov 11. doi: 10.1002/ajmg.a.61399. [Epub ahead of print] Review.

PMID:
31710777
4.

The challenges of diagnosis and management of Gitelman syndrome.

Urwin S, Willows J, Sayer JA.

Clin Endocrinol (Oxf). 2019 Oct 2. doi: 10.1111/cen.14104. [Epub ahead of print]

PMID:
31578736
5.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report.

Willows J, Al Badi M, Richardson C, Edwards N, Rice S, Sayer JA.

F1000Res. 2019 May 15;8:666. doi: 10.12688/f1000research.19006.1. eCollection 2019.

6.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA.

Hum Mol Genet. 2019 Aug 22. pii: ddz202. doi: 10.1093/hmg/ddz202. [Epub ahead of print]

PMID:
31435670
7.

Renal ciliopathies.

Devlin LA, Sayer JA.

Curr Opin Genet Dev. 2019 Jun;56:49-60. doi: 10.1016/j.gde.2019.07.005. Epub 2019 Aug 13. Review.

PMID:
31419725
8.

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.

Frikstad KM, Molinari E, Thoresen M, Ramsbottom SA, Hughes F, Letteboer SJF, Gilani S, Schink KO, Stokke T, Geimer S, Pedersen LB, Giles RH, Akhmanova A, Roepman R, Sayer JA, Patzke S.

Cell Rep. 2019 Aug 13;28(7):1907-1922.e6. doi: 10.1016/j.celrep.2019.07.025.

9.

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.

Molinari E, Ramsbottom SA, Srivastava S, Booth P, Alkanderi S, McLafferty SM, Devlin LA, White K, Gunay-Aygun M, Miles CG, Sayer JA.

Sci Rep. 2019 Jul 25;9(1):10828. doi: 10.1038/s41598-019-47243-z.

10.

Acquired C1-inhibitor deficiency presenting with nephrotic syndrome.

Willows J, Wood K, Bourne H, Sayer JA.

BMJ Case Rep. 2019 Jul 11;12(7). pii: e230388. doi: 10.1136/bcr-2019-230388.

PMID:
31300605
11.

Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.

Jiráčková J, Hyšpler R, Alkanderi S, Pavlíková L, Palicka V, Sayer JA.

Kidney Blood Press Res. 2019;44(4):870-877. doi: 10.1159/000500922. Epub 2019 Jul 9.

12.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

13.

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, Kurdi W, Alnemer M, Altaleb N, Ali W, Al-Numair N, Almejaish N, Sayer JA, Imtiaz F.

Pediatr Nephrol. 2019 Sep;34(9):1615-1623. doi: 10.1007/s00467-019-04267-x. Epub 2019 May 11.

PMID:
31079206
14.

A case of ocular cystinosis associated with two potentially severe CTNS mutations.

Browning AC, Figueiredo GS, Baylis O, Montgomery E, Beesley C, Molinari E, Figueiredo FC, Sayer JA.

Ophthalmic Genet. 2019 Apr;40(2):157-160. doi: 10.1080/13816810.2019.1592198. Epub 2019 Apr 6.

PMID:
30957593
15.

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.

Schönauer R, Petzold F, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J.

Urolithiasis. 2019 Dec;47(6):511-519. doi: 10.1007/s00240-019-01116-2. Epub 2019 Feb 23.

16.

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.

Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, Jobst-Schwan T, Ahmad M, Sayer JA, Gee HY, Halbritter J, Knöpfel T, Hernando N, Werner A, Wagner C, Khaliq S, Hildebrandt F.

Hum Genet. 2019 Mar;138(3):211-219. doi: 10.1007/s00439-019-01978-x. Epub 2019 Feb 18.

PMID:
30778725
17.

CYP24A1 mutations and hypervitaminosis D.

Willows J, Sayer JA.

Clin Med (Lond). 2019 Jan;19(1):92-93. doi: 10.7861/clinmedicine.19-1-92a. No abstract available.

18.

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.

Molinari E, Ramsbottom SA, Sammut V, Hughes FEP, Sayer JA.

Version 2. F1000Res. 2018 Jul 25 [revised 2018 Jan 1];7:1133. doi: 10.12688/f1000research.15511.2. eCollection 2018.

19.

Precision medicine in renal stone-formers.

Hill F, Sayer JA.

Urolithiasis. 2019 Feb;47(1):99-105. doi: 10.1007/s00240-018-1091-5. Epub 2018 Nov 20. Review.

20.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA.

Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):12489-12494. doi: 10.1073/pnas.1809432115. Epub 2018 Nov 16.

21.

Seasonal hypercalcaemia; consider CYP24A1 mutation.

Willows J, Sayer JA.

QJM. 2019 May 1;112(5):393. doi: 10.1093/qjmed/hcy265. No abstract available.

PMID:
30418660
22.

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA.

Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27.

23.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.

Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA.

Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12.

24.

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A.

Physiol Rep. 2018 Jun;6(12):e13715. doi: 10.14814/phy2.13715.

25.

Variable phenotypic presentations of renal involvement in Fabry disease: a case series.

McCloskey S, Brennan P, Sayer JA.

F1000Res. 2018 Mar 22;7:356. doi: 10.12688/f1000research.13708.1. eCollection 2018.

26.

Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan.

Müller RU, Haas CS, Sayer JA.

Clin Kidney J. 2018 Feb;11(1):62-69. doi: 10.1093/ckj/sfx071. Epub 2017 Jul 27.

27.

Re: Sagy I, Zeldetz V, Halerin D, Abu Tailakh M, Novack V. The effect of Ramadan fast on the incidence of renal colic emergency department visits.

Hill FJ, Sayer JA.

QJM. 2018 May 1;111(5):353-354. doi: 10.1093/qjmed/hcy018. No abstract available.

PMID:
29415261
28.

Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.

Srivastava S, Molinari E, Raman S, Sayer JA.

Front Pediatr. 2018 Jan 5;5:287. doi: 10.3389/fped.2017.00287. eCollection 2017. Review.

29.

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.

Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ.

Sci Rep. 2018 Jan 8;8(1):459. doi: 10.1038/s41598-017-17992-w.

30.

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.

31.

Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Mabillard H, Srivastava S, Haslam P, Karasek M, Sayer JA.

Case Rep Nephrol. 2017;2017:4653267. doi: 10.1155/2017/4653267. Epub 2017 Oct 18.

32.

Editorial Comment.

Sayer JA, Hill F.

J Urol. 2018 Mar;199(3):632. doi: 10.1016/j.juro.2017.09.155. Epub 2017 Nov 21. No abstract available.

PMID:
29172037
33.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.

Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.

34.

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.

Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ.

Sci Rep. 2017 Nov 6;7(1):14595. doi: 10.1038/s41598-017-15062-9. Erratum in: Sci Rep. 2018 Jan 8;8(1):459.

35.

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Srivastava S, Ramsbottom SA, Molinari E, Alkanderi S, Filby A, White K, Henry C, Saunier S, Miles CG, Sayer JA.

Hum Mol Genet. 2017 Dec 1;26(23):4657-4667. doi: 10.1093/hmg/ddx347.

36.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F.

Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12.

37.

Urolithiasis as an extraarticular manifestation of ankylosing spondylitis.

Korkmaz C, Cansu DÜ, Sayer JA.

Rheumatol Int. 2017 Dec;37(12):1949-1956. doi: 10.1007/s00296-017-3788-0. Epub 2017 Aug 18. Review.

PMID:
28822009
38.

Kidney Disease in Oman: a View of the Current and Future Landscapes.

Al Alawi IH, Al Salmi I, Al Mawali A, Sayer JA.

Iran J Kidney Dis. 2017 Jul;11(4):263-270. Review.

39.

From disease modelling to personalised therapy in patients with CEP290 mutations.

Molinari E, Srivastava S, Sayer JA, Ramsbottom SA.

F1000Res. 2017 May 12;6:669. doi: 10.12688/f1000research.11553.1. eCollection 2017.

40.

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases.

Al Alawi I, Al Salmi I, Al Mawali A, Al Maimani Y, Sayer JA.

Int J Nephrol. 2017;2017:6403985. doi: 10.1155/2017/6403985. Epub 2017 Jun 8.

41.

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.

42.

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.

Iqbal Z, Sayer JA.

F1000Res. 2017 Apr 12;6:470. doi: 10.12688/f1000research.11316.1. eCollection 2017.

43.

Tenofovir disoproxil fumarate-associated renal tubular dysfunction: noninvasive assessment of mitochondrial injury.

Samuels R, Bayerri CR, Sayer JA, Price DA, Payne BAI.

AIDS. 2017 Jun 1;31(9):1297-1301. doi: 10.1097/QAD.0000000000001466.

44.

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH.

PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar.

45.

Lessons learned from a multidisciplinary renal genetics clinic.

Alkanderi S, Yates LM, Johnson SA, Sayer JA.

QJM. 2017 Jul 1;110(7):453-457. doi: 10.1093/qjmed/hcx030.

PMID:
28177086
46.
47.

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.

Al-Hamed MH, Kurdi W, Alsahan N, Ambosaidi Q, Tulbah M, Sayer JA.

Clin Kidney J. 2016 Dec;9(6):807-810. Epub 2016 Jul 1.

48.

Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.

Sayer JA.

J Am Soc Nephrol. 2017 Mar;28(3):748-759. doi: 10.1681/ASN.2016050576. Epub 2016 Dec 8. Review.

49.

Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome.

Iqbal Z, Mead P, Sayer JA.

F1000Res. 2016 May 12;5:875. doi: 10.12688/f1000research.8732.1. eCollection 2016.

50.

Mutations in SLC26A1 Cause Nephrolithiasis.

Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F.

Am J Hum Genet. 2016 Jun 2;98(6):1228-1234. doi: 10.1016/j.ajhg.2016.03.026. Epub 2016 May 19.

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