Hildebrandt F - Search Results

1

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group. Halbritter J, et al. Among authors: hildebrandt f. Hum Genet. 2013 Aug;132(8):865-84. doi: 10.1007/s00439-013-1297-0. Epub 2013 Apr 5. Hum Genet. 2013. PMID: 23559409 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

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

Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans.

Otto E, Kispert A, Schätzle S, Lescher B, Rensing C, Hildebrandt F. Otto E, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2000 Feb;11(2):270-282. doi: 10.1681/ASN.V112270. J Am Soc Nephrol. 2000. PMID: 10665934

5

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. Among authors: hildebrandt f. J Pediatr. 2000 Jun;136(6):828-31. J Pediatr. 2000. PMID: 10839884

6

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.

7

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. Among authors: hildebrandt f. 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

8

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.

9

Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.

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

10

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

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