Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

19 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F. Hoefele J, et al. Among authors: imm a. Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9326. Hum Mutat. 2005. PMID: 15776426 Free article.
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Wolf MT, Zalewski I, Martin FC, Ruf R, Müller D, Hennies HC, Schwarz S, Panther F, Attanasio M, Acosta HG, Imm A, Lucke B, Utsch B, Otto E, Nurnberg P, Nieto VG, Hildebrandt F. Wolf MT, et al. Among authors: imm a. Nephrol Dial Transplant. 2005 May;20(5):909-14. doi: 10.1093/ndt/gfh754. Epub 2005 Mar 1. Nephrol Dial Transplant. 2005. PMID: 15741201
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Otto EA, et al. Among authors: imm a. Nat Genet. 2005 Mar;37(3):282-8. doi: 10.1038/ng1520. Epub 2005 Feb 20. Nat Genet. 2005. PMID: 15723066
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F; APN Study Group. Ruf RG, et al. Among authors: imm a. Kidney Int. 2004 Aug;66(2):564-70. doi: 10.1111/j.1523-1755.2004.00775.x. Kidney Int. 2004. PMID: 15253707 Free article.
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group. Ruf RG, et al. Among authors: imm a. J Am Soc Nephrol. 2004 Mar;15(3):722-32. doi: 10.1097/01.asn.0000113552.59155.72. J Am Soc Nephrol. 2004. PMID: 14978175 Free article.
19 results