Browse by UCL people
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Number of items: 16.
Article
Abdelhadi, O;
Iancu, D;
Stanescu, H;
Kleta, R;
Bockenhauer, D;
(2016)
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.
Rare Diseases
, 4
(1)
, Article e1195043. 10.1080/21675511.2016.1195043.
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Abdelhadi, O;
Iancu, D;
Tekman, M;
Stanescu, H;
Bockenhauer, D;
Kleta, R;
(2016)
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Molecular Genetics & Genomic Medicine
, 4
(5)
pp. 521-526.
10.1002/mgg3.227.
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Ashton, E;
Legrand, A;
Benoit, V;
Roncelin, I;
Venisse, A;
Zennaro, MC;
Jeunemaitre, X;
... Bockenhauer, D; + view all
(2018)
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney International
, 93
(4)
pp. 961-967.
10.1016/j.kint.2017.10.016.
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Cabezas, OR;
Flanagan, S;
Stanescu, H;
Garcia-Martinez, E;
Caswell, R;
Lango-Allen, H;
Anton-Gamero, M;
... Bockenhauer, D; + view all
(2017)
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2.
Journal of the American Society of Nephrology
, 28
(8)
pp. 2529-2539.
10.1681/ASN.2016121312.
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Dourado, MR;
Dos Santos, CRR;
Dumitriu, S;
Iancu, D;
Albanyan, S;
Kleta, R;
Coletta, RD;
(2019)
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
European Journal of Medical Genetics
, 62
(11)
, Article 103561. 10.1016/j.ejmg.2018.10.013.
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Dufek, S;
Holtta, T;
Trautmann, A;
Ylinen, E;
Alpay, H;
Ariceta, G;
Aufricht, C;
... Shroff, R; + view all
(2019)
Management of children with congenital nephrotic syndrome: challenging treatment paradigms.
Nephrology Dialysis Transplantation
, 34
(8)
pp. 1369-1377.
10.1093/ndt/gfy165.
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Hureaux, M;
Ashton, E;
Dahan, K;
Houillier, P;
Blanchard, A;
Cormier, C;
Koumakis, E;
... Vargas-Poussou, R; + view all
(2019)
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Kidney International
, 96
(6)
pp. 1408-1416.
10.1016/j.kint.2019.08.027.
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Islam, S;
Tekman, M;
Flanagan, SE;
Guay-Woodford, L;
Hussain, K;
Ellard, S;
Kleta, R;
... Iancu, D; + view all
(2021)
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Molecular Genetics & Genomic Medicine
, Article e1674. 10.1002/mgg3.1674.
(In press).
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Issler, Naomi;
Afonso, Sara;
Weissman, Irith;
Jordan, Katrin;
Cebrian-Serrano, Alberto;
Meindl, Katrin;
Dahlke, Eileen;
... Warth, Richard; + view all
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology
, 33
(4)
pp. 732-745.
10.1681/ASN.2021101312.
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Lopez-Garcia, SC;
Emma, F;
Walsh, SB;
Fila, M;
Hooman, N;
Zaniew, M;
Bertholet-Thomas, A;
... Bockenhauer, D; + view all
(2019)
Treatment and long-term outcome in primary distal renal tubular acidosis.
Nephrology Dialysis Transplantation
, 34
(6)
pp. 981-991.
10.1093/ndt/gfy409.
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Reichold, M;
Klootwijk, ED;
Reinders, J;
Otto, EA;
Milani, M;
Broeker, C;
Laing, C;
... Kleta, R; + view all
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Journal of the American Society of Nephrology
, 29
(7)
pp. 1849-1858.
10.1681/ASN.2017111179.
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Sharma, S;
Ashton, E;
Iancu, D;
Arthus, M-F;
Hayes, W;
Van't Hoff, W;
Kleta, R;
... Bockenhauer, D; + view all
(2018)
Long-term outcome in inherited Nephrogenic Diabetes Insipidus.
CKJ: Clinical Kidney Journal
10.1093/ckj/sfy027.
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Stewart, D;
Iancu, D;
Ashton, E;
Courtney, A;
Connor, A;
Walsh, SB;
(2018)
Transplantation of a Gitelman Syndrome Kidney Ameliorates Hypertension: A Case Report.
American Journal of Kidney Diseases
10.1053/j.ajkd.2018.06.030.
(In press).
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Viering, DHHM;
Chan, MMY;
Hoogenboom, L;
Iancu, D;
de Baaij, JHF;
Tullus, K;
Kleta, R;
(2020)
Genetics of renovascular hypertension in children.
Journal of Hypertension
, 38
(10)
pp. 1964-1970.
10.1097/HJH.0000000000002491.
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Walsh, PR;
Tse, Y;
Ashton, E;
Iancu, D;
Jenkins, L;
Bienias, M;
Kleta, R;
... Bockenhauer, D; + view all
(2018)
Clinical and diagnostic features of Bartter and Gitelman syndromes.
Clinical Kidney Journal
, 11
(3)
10.1093/ckj/sfx118.
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Wan, ER;
Iancu, D;
Ashton, E;
Siew, K;
Mohidin, B;
Sung, CC;
Nagano, C;
... Walsh, SB; + view all
(2022)
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Kidney International Reports
10.1016/j.ekir.2022.12.008.
(In press).
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