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Items: 43

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.

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.

3.

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
4.

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.

5.

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
6.

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.

PMID:
18469313
7.

[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
8.

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
9.

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.

10.

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.

11.

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
12.

A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.

Gorgojo JJ, Donnay S, Jeck N, Konrad M.

Horm Res. 2006;65(2):62-8. Epub 2006 Jan 2.

PMID:
16391491
13.

Gitelman's syndrome in late adulthood.

Horak P, Jeck N, Frysak Z, Zadrazil J.

Clin Endocrinol (Oxf). 2005 Dec;63(6):697-9. No abstract available.

PMID:
16343108
14.

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.

Besbas N, Ozaltin F, Jeck N, Seyberth H, Ludwig M.

Nephrol Dial Transplant. 2005 Jul;20(7):1476-9. Epub 2005 Apr 6. No abstract available.

PMID:
15814539
15.

Salt handling in the distal nephron: lessons learned from inherited human disorders.

Jeck N, Schlingmann KP, Reinalter SC, Kömhoff M, Peters M, Waldegger S, Seyberth HW.

Am J Physiol Regul Integr Comp Physiol. 2005 Apr;288(4):R782-95. Review.

16.

pH dependence of extracellular calcium sensing receptor activity determined by a novel technique.

Doroszewicz J, Waldegger P, Jeck N, Seyberth H, Waldegger S.

Kidney Int. 2005 Jan;67(1):187-92.

17.

Pharmacotyping of hypokalaemic salt-losing tubular disorders.

Reinalter SC, Jeck N, Peters M, Seyberth HW.

Acta Physiol Scand. 2004 Aug;181(4):513-21. Review.

PMID:
15283765
18.

Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.

Jeck N, Waldegger S, Lampert A, Boehmer C, Waldegger P, Lang PA, Wissinger B, Friedrich B, Risler T, Moehle R, Lang UE, Zill P, Bondy B, Schaeffeler E, Asante-Poku S, Seyberth H, Schwab M, Lang F.

Hypertension. 2004 Jun;43(6):1175-81. Epub 2004 May 17.

PMID:
15148291
19.

Salt wasting and deafness resulting from mutations in two chloride channels.

Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S.

N Engl J Med. 2004 Mar 25;350(13):1314-9. No abstract available.

20.

A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.

Jeck N, Waldegger P, Doroszewicz J, Seyberth H, Waldegger S.

Kidney Int. 2004 Jan;65(1):190-7.

21.

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.

Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F.

Kidney Int. 2004 Jan;65(1):25-9.

22.

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.

Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M.

Kidney Int. 2003 Sep;64(3):923-32.

23.

Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.

Finer G, Shalev H, Birk OS, Galron D, Jeck N, Sinai-Treiman L, Landau D.

J Pediatr. 2003 Mar;142(3):318-23.

PMID:
12640382
24.

Barttin increases surface expression and changes current properties of ClC-K channels.

Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW.

Pflugers Arch. 2002 Jun;444(3):411-8. Epub 2002 Apr 9.

PMID:
12111250
25.

Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome.

Reinalter SC, Jeck N, Brochhausen C, Watzer B, Nüsing RM, Seyberth HW, Kömhoff M.

Kidney Int. 2002 Jul;62(1):253-60.

26.

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.

Marr N, Bichet DG, Lonergan M, Arthus MF, Jeck N, Seyberth HW, Rosenthal W, van Os CH, Oksche A, Deen PM.

Hum Mol Genet. 2002 Apr 1;11(7):779-89.

PMID:
11929850
27.

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus G Gü, Konrad M, Seyberth HW.

Am J Med. 2002 Feb 15;112(3):183-90.

PMID:
11893344
28.

Risk of steroid withdrawal in pediatric renal transplant patients with suspected steroid toxicity.

Klaus G, Jeck N, Konrad M, Förster B, Soergel M.

Clin Nephrol. 2001 Dec;56(6):S37-42.

PMID:
11770812
29.

Hereditary hypokalemic salt-losing tubulopathies: Bartter-like syndromes.

Peters M, Jeck N, Seyberth HW, Konrad M.

Contrib Nephrol. 2001;(136):157-73. Review. No abstract available.

PMID:
11688378
30.

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F.

Nat Genet. 2001 Nov;29(3):310-4.

PMID:
11687798
31.

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.

Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M.

Pediatrics. 2001 Jul;108(1):E5.

PMID:
11433084
32.

Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.

Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M.

Kidney Int. 2001 May;59(5):1803-11.

33.

Atypical distal renal tubular acidosis confirmed by mutation analysis.

Weber S, Soergel M, Jeck N, Konrad M.

Pediatr Nephrol. 2000 Dec;15(3-4):201-4.

PMID:
11149111
34.

The diuretic- and Bartter-like salt-losing tubulopathies.

Jeck N, Konrad M, Hess M, Seyberth HW.

Nephrol Dial Transplant. 2000;15 Suppl 6:19-20. No abstract available.

PMID:
11143975
35.

Cyclooxygenase-2 expression is associated with the renal macula densa of patients with Bartter-like syndrome.

Kömhoff M, Jeck ND, Seyberth HW, Gröne HJ, Nüsing RM, Breyer MD.

Kidney Int. 2000 Dec;58(6):2420-4.

36.

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.

Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW.

Pediatr Res. 2000 Dec;48(6):754-8.

PMID:
11102542
37.

The effects of lifibrol (K12.148) on the cholesterol metabolism of cultured cells: evidence for sterol independent stimulation of the LDL receptor pathway.

Scharnagl H, Schliack M, Löser R, Nauck M, Gierens H, Jeck N, Wieland H, Gross W, März W.

Atherosclerosis. 2000 Nov;153(1):69-80.

PMID:
11058701
38.

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F.

J Am Soc Nephrol. 2000 Aug;11(8):1449-59.

39.

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M.

Eur J Hum Genet. 2000 Jun;8(6):414-22.

40.

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.

Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van Den Heuvel LP, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NV.

Nephrol Dial Transplant. 2000 Jul;15(7):970-4.

PMID:
10862633
41.

pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome.

Schulte U, Hahn H, Konrad M, Jeck N, Derst C, Wild K, Weidemann S, Ruppersberg JP, Fakler B, Ludwig J.

Proc Natl Acad Sci U S A. 1999 Dec 21;96(26):15298-303.

42.

Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).

Derst C, Döring F, Preisig-Müller R, Daut J, Karschin A, Jeck N, Weber S, Engel H, Grzeschik KH.

Genomics. 1998 Dec 15;54(3):560-3.

PMID:
9878260
43.

A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.

Derst C, Wischmeyer E, Preisig-Müller R, Spauschus A, Konrad M, Hensen P, Jeck N, Seyberth HW, Daut J, Karschin A.

J Biol Chem. 1998 Sep 11;273(37):23884-91.

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