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Items: 1 to 20 of 114

1.

Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.

Dickson FJ, Sayer JA.

Int J Mol Sci. 2020 Jan 6;21(1). pii: E369. doi: 10.3390/ijms21010369. Review.

2.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Ramsbottom SA, Thelwall PE, Wood KM, Clowry GJ, Devlin LA, Silbermann F, Spiewak HL, Shril S, Molinari E, Hildebrandt F, Gunay-Aygun M, Saunier S, Cordell HJ, Sayer JA, Miles CG.

Proc Natl Acad Sci U S A. 2020 Jan 14;117(2):1113-1118. doi: 10.1073/pnas.1912602117. Epub 2019 Dec 26.

3.

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Al Alawi I, Al Salmi I, Al Rahbi F, Al Riyami M, Al Kalbani N, Al Ghaithi B, Al Mawali A, Sayer JA.

Kidney Int Rep. 2019 Aug 30;4(12):1751-1759. doi: 10.1016/j.ekir.2019.08.012. eCollection 2019 Dec. No abstract available.

4.

ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.

Powell L, Samarakoon YH, Ismail S, Sayer JA.

Small GTPases. 2019 Dec 18:1-10. doi: 10.1080/21541248.2019.1703466. [Epub ahead of print]

PMID:
31826708
5.

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

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

Version 2. F1000Res. 2019 May 15 [revised 2019 Jan 1];8:666. doi: 10.12688/f1000research.19006.2. eCollection 2019.

6.

The Molecular Genetics of Gordon Syndrome.

Mabillard H, Sayer JA.

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

7.

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.

8.

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. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Review.

PMID:
31710777
9.

The challenges of diagnosis and management of Gitelman syndrome.

Urwin S, Willows J, Sayer JA.

Clin Endocrinol (Oxf). 2020 Jan;92(1):3-10. doi: 10.1111/cen.14104. Epub 2019 Oct 6. Review.

PMID:
31578736
10.

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 Nov 15;28(22):3766-3776. doi: 10.1093/hmg/ddz202.

11.

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
12.

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.

13.

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.

14.

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.

15.

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.

16.

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
17.

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
18.

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.

19.

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
20.

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.

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