Otto EA - Search Results

1

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F. Saisawat P, et al. Among authors: otto ea. Kidney Int. 2012 Jan;81(2):196-200. doi: 10.1038/ki.2011.315. Epub 2011 Sep 7. Kidney Int. 2012. PMID: 21900877 Free PMC article.

2

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.

Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M. Hildebrandt F, et al. Nat Genet. 1997 Oct;17(2):149-53. doi: 10.1038/ng1097-149. Nat Genet. 1997. PMID: 9326933

3

Molecular genetics of nephronophthisis and medullary cystic kidney disease.

Hildebrandt F, Otto E. Hildebrandt F, et al. J Am Soc Nephrol. 2000 Sep;11(9):1753-1761. doi: 10.1681/ASN.V1191753. J Am Soc Nephrol. 2000. PMID: 10966501 Review.

4

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E; Arbeitsgemeinschaft für Paediatrische Nephrologie (APN) Study Group. Hildebrandt F, et al. Kidney Int. 2001 Feb;59(2):434-45. doi: 10.1046/j.1523-1755.2001.059002434.x. Kidney Int. 2001. PMID: 11168925 Free article.

5

Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.

Heninger E, Otto E, Imm A, Caridi G, Hildebrandt F. Heninger E, et al. Am J Kidney Dis. 2001 Jun;37(6):1131-9. doi: 10.1053/ajkd.2001.24514. Am J Kidney Dis. 2001. PMID: 11382680

6

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F. Schuermann MJ, et al. Am J Hum Genet. 2002 May;70(5):1240-6. doi: 10.1086/340317. Epub 2002 Mar 27. Am J Hum Genet. 2002. PMID: 11920287 Free PMC article.

7

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. Otto E, et al. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. Am J Hum Genet. 2002. PMID: 12205563 Free PMC article.

8

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

Ruf RG, Fuchshuber A, Karle SM, Lemainque A, Huck K, Wienker T, Otto E, Hildebrandt F. Ruf RG, et al. J Am Soc Nephrol. 2003 Jul;14(7):1897-900. doi: 10.1097/01.asn.0000070070.03811.02. J Am Soc Nephrol. 2003. PMID: 12819251

9

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Olbrich H, et al. Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. Nat Genet. 2003. PMID: 12872122

10

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Otto EA, et al. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.

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