Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
- PMID: 15805161
- PMCID: PMC1736033
- DOI: 10.1136/jmg.2004.024489
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Similar articles
-
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.BMC Med Genet. 2015 Dec 22;16:116. doi: 10.1186/s12881-015-0261-3. BMC Med Genet. 2015. PMID: 26695994 Free PMC article.
-
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).Hum Mutat. 2004 May;23(5):487-95. doi: 10.1002/humu.20019. Hum Mutat. 2004. PMID: 15108281
-
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).Hum Mutat. 2005 Mar;25(3):225-31. doi: 10.1002/humu.20145. Hum Mutat. 2005. PMID: 15706593 Review.
-
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.Kidney Int. 2003 Aug;64(2):391-403. doi: 10.1046/j.1523-1755.2003.00111.x. Kidney Int. 2003. PMID: 12846734
-
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).Hum Mutat. 2004 May;23(5):453-63. doi: 10.1002/humu.20029. Hum Mutat. 2004. PMID: 15108277 Review.
Cited by
-
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26. J Hum Genet. 2016. PMID: 27225849
-
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Exp Mol Med. 2016 Aug 5;48(8):e251. doi: 10.1038/emm.2016.63. Exp Mol Med. 2016. PMID: 27491411 Free PMC article.
-
The causes and consequences of paediatric kidney disease on adult nephrology care.Pediatr Nephrol. 2022 Jun;37(6):1245-1261. doi: 10.1007/s00467-021-05182-w. Epub 2021 Aug 13. Pediatr Nephrol. 2022. PMID: 34389906 Review.
-
Transcriptional complexity in autosomal recessive polycystic kidney disease.Clin J Am Soc Nephrol. 2014 Oct 7;9(10):1729-36. doi: 10.2215/CJN.00920114. Epub 2014 Aug 7. Clin J Am Soc Nephrol. 2014. PMID: 25104275 Free PMC article.
-
NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.Sci Rep. 2017 Aug 10;7(1):7733. doi: 10.1038/s41598-017-08284-4. Sci Rep. 2017. PMID: 28798345 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical