Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

314 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F. Gbadegesin R, et al. Among authors: antignac c. Nephrol Dial Transplant. 2008 Apr;23(4):1291-7. doi: 10.1093/ndt/gfm759. Epub 2007 Dec 8. Nephrol Dial Transplant. 2008. PMID: 18065803
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D, Hildebrandt F. Konrad M, et al. Among authors: antignac c. J Am Soc Nephrol. 2000 Aug;11(8):1449-1459. doi: 10.1681/ASN.V1181449. J Am Soc Nephrol. 2000. PMID: 10906158
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: antignac c. Nephrol Dial Transplant. 2001 Apr;16(4):755-8. doi: 10.1093/ndt/16.4.755. Nephrol Dial Transplant. 2001. PMID: 11274269
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Otto EA, et al. Among authors: antignac c. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.
Evidence of oligogenic inheritance in nephronophthisis.
Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schultheiss U, Dêschenes G, Attanasio M, Utsch B, Antignac C, Hildebrandt F. Hoefele J, et al. Among authors: antignac c. J Am Soc Nephrol. 2007 Oct;18(10):2789-95. doi: 10.1681/ASN.2007020243. Epub 2007 Sep 12. J Am Soc Nephrol. 2007. PMID: 17855640
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Wolf MT, et al. Among authors: antignac c. Kidney Int. 2007 Dec;72(12):1520-6. doi: 10.1038/sj.ki.5002630. Epub 2007 Oct 24. Kidney Int. 2007. PMID: 17960139 Free article.
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tête MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C. Philippe A, et al. Among authors: antignac c. J Am Soc Nephrol. 2008 Oct;19(10):1871-8. doi: 10.1681/ASN.2008010059. Epub 2008 Jul 9. J Am Soc Nephrol. 2008. PMID: 18614772 Free PMC article.
314 results