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Items: 1 to 20 of 155

1.

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

Dourado MR, Dos Santos CRR, Dumitriu S, Iancu D, Albanyan S, Kleta R, Coletta RD, Marques Mesquita AT.

Eur J Med Genet. 2018 Oct 28. pii: S1769-7212(18)30249-0. doi: 10.1016/j.ejmg.2018.10.013. [Epub ahead of print]

PMID:
30394349
2.

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.

PMID:
30388404
3.

MUC1 Makes Me Miserable.

Gale DP, Kleta R.

J Am Soc Nephrol. 2018 Sep;29(9):2257-2258. doi: 10.1681/ASN.2018070742. Epub 2018 Aug 17. No abstract available.

PMID:
30120109
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.

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
6.

Zebrafish as a model for kidney function and disease.

Outtandy P, Russell C, Kleta R, Bockenhauer D.

Pediatr Nephrol. 2018 Mar 3. doi: 10.1007/s00467-018-3921-7. [Epub ahead of print] Review.

PMID:
29502161
7.

OVAS: an open-source variant analysis suite with inheritance modelling.

Mozere M, Tekman M, Kari J, Bockenhauer D, Kleta R, Stanescu H.

BMC Bioinformatics. 2018 Feb 8;19(1):46. doi: 10.1186/s12859-018-2030-8.

8.

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
9.

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.

PMID:
29242249
10.

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Kleta R, Bockenhauer D.

J Am Soc Nephrol. 2018 Mar;29(3):727-739. doi: 10.1681/ASN.2017060600. Epub 2017 Dec 13.

PMID:
29237739
11.

Genetics of membranous nephropathy.

Gupta S, Köttgen A, Hoxha E, Brenchley P, Bockenhauer D, Stanescu HC, Kleta R.

Nephrol Dial Transplant. 2017 Nov 6. doi: 10.1093/ndt/gfx296. [Epub ahead of print]

PMID:
29126273
12.

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.

Tekman M, Medlar A, Mozere M, Kleta R, Stanescu H.

Bioinformatics. 2017 Dec 15;33(24):3871-3877. doi: 10.1093/bioinformatics/btx510.

PMID:
28961780
13.

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.

14.

Membranous nephropathy: a retrospective observational study of membranous nephropathy in north east and central London.

Gupta S, Connolly J, Pepper RJ, Walsh SB, Yaqoob MM, Kleta R, Ashman N.

BMC Nephrol. 2017 Jun 21;18(1):201. doi: 10.1186/s12882-017-0615-5.

15.

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.

16.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F.

J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. doi: 10.1681/ASN.2016060694. Epub 2017 Apr 5.

17.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

18.

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Siitonen M, Börjesson-Hanson A, Pöyhönen M, Ora A, Pasanen P, Bras J, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria R, Kalimo H, Singleton A, Hardy J, Viitanen M, Myllykangas L, Guerreiro R.

Brain. 2017 May 1;140(5):e29. doi: 10.1093/brain/awx062. No abstract available.

19.

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
20.

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson CP, Stanescu H, Samani NJ, Kleta R, Yu X, Barratt J.

J Am Soc Nephrol. 2017 Jul;28(7):2158-2166. doi: 10.1681/ASN.2016091043. Epub 2017 Feb 16.

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