Hildebrandt F - Search Results

1

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F. Braun DA, et al. Among authors: hildebrandt f. Kidney Int. 2016 Feb;89(2):468-475. doi: 10.1038/ki.2015.317. Kidney Int. 2016. PMID: 26489029 Free PMC article.

2

Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, Kutt R, Vollmer M, Brandis M. Hildebrandt F, et al. Kidney Int. 1997 Jan;51(1):261-9. doi: 10.1038/ki.1997.31. Kidney Int. 1997. PMID: 8995741 Free article.

3

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

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 cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes.

Vollmer M, Kremer M, Ruf R, Miot S, Nothwang HG, Wirth J, Otto E, Krapf R, Hildebrandt F. Vollmer M, et al. Among authors: hildebrandt f. Genomics. 2000 Sep 1;68(2):127-35. doi: 10.1006/geno.2000.6292. Genomics. 2000. PMID: 10964510

7

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.

8

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

9

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.

10

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

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