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Items: 1 to 20 of 52

1.

CNDP1 genotype and renal survival in pediatric nephropathies.

Peters V, Kebbewar M, Janssen B, Hoffmann GF, Möller K, Wygoda S, Charbit M, Fernandes-Teixeira A, Jeck N, Zschocke J, Schmitt CP, Schäfer F, Wühl E; ESCAPE Trial Group.

J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):827-33. doi: 10.1515/jpem-2015-0262.

PMID:
27278783
2.

Long-term growth hormone treatment in short children with CKD does not accelerate decline of renal function: results from the KIGS registry and ESCAPE trial.

Mehls O, Lindberg A, Haffner D, Schaefer F, Wühl E; German KIGS Board; ESCAPE Trial Group.

Pediatr Nephrol. 2015 Dec;30(12):2145-51. doi: 10.1007/s00467-015-3157-8. Epub 2015 Jul 22.

PMID:
26198275
3.

Normal 25-Hydroxyvitamin D Levels Are Associated with Less Proteinuria and Attenuate Renal Failure Progression in Children with CKD.

Shroff R, Aitkenhead H, Costa N, Trivelli A, Litwin M, Picca S, Anarat A, Sallay P, Ozaltin F, Zurowska A, Jankauskiene A, Montini G, Charbit M, Schaefer F, Wühl E; ESCAPE Trial Group.

J Am Soc Nephrol. 2016 Jan;27(1):314-22. doi: 10.1681/ASN.2014090947. Epub 2015 Jun 11.

PMID:
26069294
4.

Markers of bone metabolism are affected by renal function and growth hormone therapy in children with chronic kidney disease.

Doyon A, Fischer DC, Bayazit AK, Canpolat N, Duzova A, Sözeri B, Bacchetta J, Balat A, Büscher A, Candan C, Cakar N, Donmez O, Dusek J, Heckel M, Klaus G, Mir S, Özcelik G, Sever L, Shroff R, Vidal E, Wühl E, Gondan M, Melk A, Querfeld U, Haffner D, Schaefer F; 4C Study Consortium.

PLoS One. 2015 Feb 6;10(2):e0113482. doi: 10.1371/journal.pone.0113482. eCollection 2015.

5.

Urinary tract effects of HPSE2 mutations.

Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group, Saggar A, Kinali M; 4C Study Group, Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS.

J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21.

6.

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, Janssen S, Fu C, Innis JL, Weber S, Vester U, Davis EE, Katsanis N, Fathy HM, Jeck N, Klaus G, Nayir A, Rahim KA, Al Attrach I, Al Hassoun I, Ozturk S, Drozdz D, Helmchen U, O'Toole JF, Attanasio M, Lewis RA, Nürnberg G, Nürnberg P, Washburn J, MacDonald J, Innis JW, Levy S, Hildebrandt F.

Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20.

7.

Change in cardiac geometry and function in CKD children during strict BP control: a randomized study.

Matteucci MC, Chinali M, Rinelli G, Wühl E, Zurowska A, Charbit M, Pongiglione G, Schaefer F; ESCAPE Trial Group.

Clin J Am Soc Nephrol. 2013 Feb;8(2):203-10. doi: 10.2215/CJN.08420811. Epub 2012 Nov 2.

8.

Need for long-term follow-up in enterohemorrhagic Escherichia coli-associated hemolytic uremic syndrome due to late-emerging sequelae.

Rosales A, Hofer J, Zimmerhackl LB, Jungraithmayr TC, Riedl M, Giner T, Strasak A, Orth-Höller D, Würzner R, Karch H; German-Austrian HUS Study Group.

Clin Infect Dis. 2012 May;54(10):1413-21. doi: 10.1093/cid/cis196. Epub 2012 Mar 12.

9.

Loop disorders: insights derived from defined genotypes.

Jeck N, Seyberth HW.

Nephron Physiol. 2011;118(1):p7-14. doi: 10.1159/000320882. Epub 2010 Nov 11.

PMID:
21071987
10.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.

J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. Erratum in: J Med Genet. 2015 Dec;52(12):866.

11.

Strict blood-pressure control and progression of renal failure in children.

ESCAPE Trial Group, Wühl E, Trivelli A, Picca S, Litwin M, Peco-Antic A, Zurowska A, Testa S, Jankauskiene A, Emre S, Caldas-Afonso A, Anarat A, Niaudet P, Mir S, Bakkaloglu A, Enke B, Montini G, Wingen AM, Sallay P, Jeck N, Berg U, Caliskan S, Wygoda S, Hohbach-Hohenfellner K, Dusek J, Urasinski T, Arbeiter K, Neuhaus T, Gellermann J, Drozdz D, Fischbach M, Möller K, Wigger M, Peruzzi L, Mehls O, Schaefer F.

N Engl J Med. 2009 Oct 22;361(17):1639-50. doi: 10.1056/NEJMoa0902066.

12.

Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.

Tabatabaeifar M, Schlingmann KP, Litwin M, Emre S, Bakkaloglu A, Mehls O, Antignac C, Schaefer F, Weber S; ESCAPE Trial Group.

Pediatr Nephrol. 2009 Dec;24(12):2361-8. doi: 10.1007/s00467-009-1287-6. Epub 2009 Aug 14.

PMID:
19685083
13.

Superior consistency of ambulatory blood pressure monitoring in children: implications for clinical trials.

Gimpel C, Wühl E, Arbeiter K, Drozdz D, Trivelli A, Charbit M, Gellermann J, Dusek J, Jankauskiene A, Emre S, Schaefer F; ESCAPE Trial Group.

J Hypertens. 2009 Aug;27(8):1568-74. doi: 10.1097/HJH.0b013e32832cb2a8.

PMID:
19550356
14.

Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.

Bircan Z, Harputluoglu F, Jeck N.

Pediatr Nephrol. 2009 Apr;24(4):841-4. doi: 10.1007/s00467-008-1008-6. Epub 2008 Oct 9.

PMID:
18843510
15.

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.

Riveira-Munoz E, Devuyst O, Belge H, Jeck N, Strompf L, Vargas-Poussou R, Jeunemaître X, Blanchard A, Knoers NV, Konrad M, Dahan K.

Nephrol Dial Transplant. 2008 Oct;23(10):3120-5. doi: 10.1093/ndt/gfn229. Epub 2008 May 9.

16.

[Polyhydramnios, prematurity, dystrophy, polyuria, constipation, nephrocalcinosis and renal tumor: presentation of a classic tubulopathy].

Schnakenburg Cv, Frankenschmidt A, Neumann J, Häffner K, Jeck N, Pohl M.

Klin Padiatr. 2008 Jan-Feb;220(1):24-5. doi: 10.1055/s-2007-992783. German.

PMID:
18172829
17.

Can renal tubular hypokalemic disorders be accurately diagnosed on the basis of the diuretic response to thiazide?

Sassen MC, Jeck N, Klaus G.

Nat Clin Pract Nephrol. 2007 Oct;3(10):528-9. Epub 2007 Aug 14. No abstract available.

PMID:
17700553
18.

Reduced systolic myocardial function in children with chronic renal insufficiency.

Chinali M, de Simone G, Matteucci MC, Picca S, Mastrostefano A, Anarat A, Caliskan S, Jeck N, Neuhaus TJ, Peco-Antic A, Peruzzi L, Testa S, Mehls O, Wühl E, Schaefer F; ESCAPE Trial Group.

J Am Soc Nephrol. 2007 Feb;18(2):593-8. Epub 2007 Jan 10.

19.

Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter.

Pressler CA, Heinzinger J, Jeck N, Waldegger P, Pechmann U, Reinalter S, Konrad M, Beetz R, Seyberth HW, Waldegger S.

J Am Soc Nephrol. 2006 Aug;17(8):2136-42. Epub 2006 Jun 28.

20.

Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.

Frey A, Lampert A, Waldegger S, Jeck N, Waldegger P, Artunc F, Seebohm G, Lang UE, Kupka S, Pfister M, Hoppe J, Gerloff C, Schaeffeler E, Schwab M, Lang F.

Hear Res. 2006 Apr;214(1-2):68-75. Epub 2006 Mar 23.

PMID:
16549283
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