References
F Hildebrandt P Jungers C Robino J-P Grünfeld (2001) Nephronophthisis, medullary cystic and medullary sponge kidney disease RW Schrier (Eds) Diseases of the kidney and urinary tract EditionNumber7th ed. Lippincott Williams & Wilkins Philadelphia 521–46
F Hildebrandt E Otto C Rensing HG Nothwang M Vollmer J Adolphs et al. (1997) ArticleTitleA novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 Nat Genet 17 149–53 Occurrence Handle1:CAS:528:DyaK2sXmsFant7o%3D Occurrence Handle10.1038/ng1097-149 Occurrence Handle9326933
EA Otto B Schermer T Obara JF O'Toole KS Hiller AM Mueller et al. (2003) ArticleTitleMutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination Nat Genet 34 413–20 Occurrence Handle1:CAS:528:DC%2BD3sXmt1Sku74%3D Occurrence Handle10.1038/ng1217 Occurrence Handle12872123 Occurrence Handle3732175
H Olbrich M Fliegauf J Hoefele A Kispert E Otto A Volz et al. (2003) ArticleTitleMutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis Nat Genet 34 455–9 Occurrence Handle1:CAS:528:DC%2BD3sXmt1Sku7k%3D Occurrence Handle10.1038/ng1216 Occurrence Handle12872122
G Mollet R Salomon O Gribouval F Silbermann D Bacq G Landthaler et al. (2002) ArticleTitleThe gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin Nat Genet 32 300–5 Occurrence Handle1:CAS:528:DC%2BD38Xotlaisb8%3D Occurrence Handle10.1038/ng996 Occurrence Handle12244321
EA Otto B Loeys H Khanna J Hellemans R Sudbrak S Fan et al. (2005) ArticleTitleNephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin Nat Genet 37 282–8 Occurrence Handle1:CAS:528:DC%2BD2MXhsFOqu7k%3D Occurrence Handle10.1038/ng1520 Occurrence Handle15723066
S Saunier J Calado F Benessy F Silbermann R Heilig J Weissenbach et al. (2000) ArticleTitleCharacterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis Am J Hum Genet 66 778–89 Occurrence Handle1:CAS:528:DC%2BD3cXisFShsL8%3D Occurrence Handle10.1086/302819 Occurrence Handle10712196 Occurrence Handle1288163
J Hoefele R Sudbrak R Reinhardt S Lehrack S Hennig A Imm et al. (2005) ArticleTitleMutational analysis of the NPHP4 gene in 250 patients with nephronophthisis Hum Mutat 25 411 Occurrence Handle10.1002/humu.9326 Occurrence Handle15776426
S Saunier R Salomon C Antignac (2005) ArticleTitleNephronophthisis Curr Opin Genet Dev 15 324–31 Occurrence Handle1:CAS:528:DC%2BD2MXks1Gjsbw%3D Occurrence Handle10.1016/j.gde.2005.04.012 Occurrence Handle15917209
M Ashizawa M Miyazaki A Furusu K Abe Y Kanamoto N Iwanaga et al. (2005) ArticleTitleNephronophthisis in two siblings Clin Exp Nephrol 9 320–5 Occurrence Handle10.1007/s10157-005-0377-4 Occurrence Handle16362160
F Hildebrandt C Rensing RC Betz U Sommer S Birnbaum A Imm et al. (2001) ArticleTitleEstablishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis Kidney Int 59 434–45 Occurrence Handle1:CAS:528:DC%2BD3MXhtlKis78%3D Occurrence Handle10.1046/j.1523-1755.2001.059002434.x Occurrence Handle11168925
K Takano T Nakamoto M Okajima A Sudo K Uetake S Saitoh (2003) ArticleTitleCerebellar and brainstem involvement in familial juvenile nephronophthisis type I Pediatr Neurol 28 142–4 Occurrence Handle10.1016/S0887-8994(02)00619-7 Occurrence Handle12699867
Author information
Authors and Affiliations
Corresponding author
About this article
Cite this article
Komatsuda, A., Wakui, H. Nephronophthisis: diagnostic difficulties and recent advances in molecular genetic diagnostics. Clin Exp Nephrol 9, 340–342 (2005). https://doi.org/10.1007/s10157-005-0383-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10157-005-0383-6