Otto EA - Search Results

1

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Failler M, et al. Among authors: otto ea. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. Am J Hum Genet. 2014. PMID: 24882706 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

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F. Betz R, et al. J Pediatr. 2000 Jun;136(6):828-31. J Pediatr. 2000. PMID: 10839884

4

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.

5

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints.

Otto E, Betz R, Rensing C, Schätzle S, Kuntzen T, Vetsi T, Imm A, Hildebrandt F. Otto E, et al. Hum Mutat. 2000 Sep;16(3):211-23. doi: 10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 10980528

6

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

7

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. Birkenhäger R, et al. Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752. Nat Genet. 2001. PMID: 11687798

8

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F. Omran H, et al. J Am Soc Nephrol. 2002 Jan;13(1):75-79. doi: 10.1681/ASN.V13175. J Am Soc Nephrol. 2002. PMID: 11752023

9

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.

10

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.

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