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Items: 1 to 20 of 144

1.

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
2.

A new multi-system disorder caused by the Gαs mutation p.F376V.

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A.

J Clin Endocrinol Metab. 2018 Oct 11. doi: 10.1210/jc.2018-01250. [Epub ahead of print]

PMID:
30312418
3.

Management of children with congenital nephrotic syndrome: challenging treatment paradigms.

Dufek S, Holtta T, Trautmann A, Ylinen E, Alpay H, Ariceta G, Aufricht C, Bacchetta J, Bakkaloglu SA, Bayazit A, Cicek RY, Dursun I, Duzova A, Ekim M, Iancu D, Jankauskiene A, Klaus G, Paglialonga F, Pasini A, Printza N, Said Conti V, do Sameiro Faria M, Schmitt CP, Stefanidis CJ, Verrina E, Vidal E, Vondrak K, Webb H, Zampetoglou A, Bockenhauer D, Edefonti A, Shroff R.

Nephrol Dial Transplant. 2018 Jun 21. doi: 10.1093/ndt/gfy165. [Epub ahead of print]

PMID:
30215773
4.

Child and Parental Perspectives on Communication and Decision Making in Pediatric CKD: A Focus Group Study.

Gutman T, Hanson CS, Bernays S, Craig JC, Sinha A, Dart A, Eddy AA, Gipson DS, Bockenhauer D, Yap HK, Groothoff J, Zappitelli M, Webb NJA, Alexander SI, Goldstein SL, Furth S, Samuel S, Blydt-Hansen T, Dionne J, Michael M, Wenderfer SE, Winkelmayer WC, Currier H, McTaggart S, Walker A, Ralph AF, Ju A, James LJ, Carter S, Tong A.

Am J Kidney Dis. 2018 Oct;72(4):547-559. doi: 10.1053/j.ajkd.2018.05.005. Epub 2018 Jul 3.

PMID:
29980375
5.

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.

6.

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.

Saito H, Noda H, Gatault P, Bockenhauer D, Loke KY, Hiort O, Silve C, Sharwood E, Martin RM, Dillon MJ, Gillis D, Harris M, Rao SD, Pauli RM, Gardella TJ, Jüppner H.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2660-2669. doi: 10.1210/jc.2018-00332.

PMID:
29788189
7.

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
8.

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.

Stiles CE, Thuraisingham R, Bockenhauer D, Platts L, Kumar AV, Korbonits M.

Endocrinol Diabetes Metab Case Rep. 2018 Mar 21;2018. pii: 17-0120. doi: 10.1530/EDM-17-0120. eCollection 2018.

9.

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
10.

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.

11.

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
12.

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
13.

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
14.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.

15.

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
16.

Potential and pitfalls in the genetic diagnosis of kidney diseases.

Kesselheim A, Ashton E, Bockenhauer D.

Clin Kidney J. 2017 Oct;10(5):581-585. doi: 10.1093/ckj/sfx075. Epub 2017 Jul 18.

17.

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants.

Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018. Erratum in: Kidney Int. 2017 Dec;92(6):1558.

18.

The orthopaedic management of lower limb deformity in hypophosphataemic rickets.

Horn A, Wright J, Bockenhauer D, Van't Hoff W, Eastwood DM.

J Child Orthop. 2017 Aug 1;11(4):298-305. doi: 10.1302/1863-2548.11.170003.

19.

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.

20.

Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney Disease.

Chong LSH, Sautenet B, Tong A, Hanson CS, Samuel S, Zappitelli M, Dart A, Furth S, Eddy AA, Groothoff J, Webb NJA, Yap HK, Bockenhauer D, Sinha A, Alexander SI, Goldstein SL, Gipson DS, Raman G, Craig JC.

J Pediatr. 2017 Jul;186:110-117.e11. doi: 10.1016/j.jpeds.2017.03.034. Epub 2017 Apr 24.

PMID:
28449820

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