Hildebrandt F - Search Results

1

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Among authors: hildebrandt f. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.

2

Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus.

Omran H, Häffner K, Vollmer M, Pigulla J, Wagner G, Caridi G, Hildebrandt F. Omran H, et al. Among authors: hildebrandt f. Nephrol Dial Transplant. 1999 Oct;14(10):2328-31. doi: 10.1093/ndt/14.10.2328. Nephrol Dial Transplant. 1999. PMID: 10528654

3

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F. Omran H, et al. Among authors: hildebrandt f. Am J Hum Genet. 2000 Jan;66(1):118-27. doi: 10.1086/302705. Am J Hum Genet. 2000. PMID: 10631142 Free PMC article.

4

Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.

Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F. Omran H, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2001 Jan;12(1):107-113. doi: 10.1681/ASN.V121107. J Am Soc Nephrol. 2001. PMID: 11134256

5

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.

6

Evidence for further genetic heterogeneity in nephronophthisis.

Omran H, Häffner K, Burth S, Ala-Mello S, Antignac C, Hildebrandt F. Omran H, et al. Among authors: hildebrandt f. Nephrol Dial Transplant. 2001 Apr;16(4):755-8. doi: 10.1093/ndt/16.4.755. Nephrol Dial Transplant. 2001. PMID: 11274269

7

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. Among authors: hildebrandt f. J Am Soc Nephrol. 2002 Jan;13(1):75-79. doi: 10.1681/ASN.V13175. J Am Soc Nephrol. 2002. PMID: 11752023

8

Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3.

Volz A, Melkaoui R, Hildebrandt F, Omran H. Volz A, et al. Among authors: hildebrandt f. Cytogenet Genome Res. 2002;97(3-4):163-6. doi: 10.1159/000066617. Cytogenet Genome Res. 2002. PMID: 12438707

9

Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.

Fliegauf M, Fröhlich C, Horvath J, Olbrich H, Hildebrandt F, Omran H. Fliegauf M, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2003 Jun;18(6):498-505. doi: 10.1007/s00467-003-1141-1. Epub 2003 May 6. Pediatr Nephrol. 2003. PMID: 12733055 Free article.

10

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. Among authors: hildebrandt f. Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. Nat Genet. 2003. PMID: 12872122

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