Hildebrandt F - Search Results

1

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Among authors: hildebrandt f. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755

2

Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.

Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedekind H, Schubotz C, Antignac C, et al. Hildebrandt F, et al. Am J Hum Genet. 1993 Dec;53(6):1256-61. Am J Hum Genet. 1993. PMID: 8250041 Free PMC article.

3

Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13.

Hildebrandt F, Cybulla M, Strahm B, Nothwang HG, Singh-Sawhney I, Berz K, Nicklin M, Reiner O, Brandis M. Hildebrandt F, et al. Cytogenet Cell Genet. 1996;73(3):235-9. doi: 10.1159/000134346. Cytogenet Cell Genet. 1996. PMID: 8697815

4

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

5

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C. Vargas-Poussou R, et al. Among authors: hildebrandt f. Am J Hum Genet. 1998 Jun;62(6):1332-40. doi: 10.1086/301872. Am J Hum Genet. 1998. PMID: 9585600 Free PMC article.

6

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.

7

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.

Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van Den Heuvel LP, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NV. Vollmer M, et al. Among authors: hildebrandt f. Nephrol Dial Transplant. 2000 Jul;15(7):970-4. doi: 10.1093/ndt/15.7.970. Nephrol Dial Transplant. 2000. PMID: 10862633

8

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

9

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. Among authors: hildebrandt f. Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752. Nat Genet. 2001. PMID: 11687798

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

475 results

Search Page

Filters