Found: 30
Select item for more details and to access through your institution.
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2524, doi. 10.1093/hmg/ddr151
- By:
- Publication type:
- Article
Analysis of published PKD1 gene sequence variants.
- Published in:
- 2007
- By:
- Publication type:
- Letter
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 10, p. 3089, doi. 10.1093/ndt/gfp229
- By:
- Publication type:
- Article
A Telomerase Immortalized Human Proximal Tubule Cell Line with a Truncation Mutation (Q4004X) in Polycystin-1.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055191
- By:
- Publication type:
- Article
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
- Published in:
- Kidney International, 2014, v. 85, n. 2, p. 383, doi. 10.1038/ki.2013.227
- By:
- Publication type:
- Article
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
- Published in:
- Kidney International, 2009, v. 75, n. 8, p. 848, doi. 10.1038/ki.2008.686
- By:
- Publication type:
- Article
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
- Published in:
- Kidney International, 2008, v. 74, n. 11, p. 1468, doi. 10.1038/ki.2008.485
- By:
- Publication type:
- Article
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
- Published in:
- Nature Genetics, 2002, v. 30, n. 3, p. 259, doi. 10.1038/ng833
- By:
- Publication type:
- Article
Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.
- Published in:
- Journal of Perinatal Medicine, 1995, v. 23, n. 3, p. 205
- By:
- Publication type:
- Article
Germline PKHD1 mutations are protective against colorectal cancer.
- Published in:
- Human Genetics, 2011, v. 129, n. 3, p. 345, doi. 10.1007/s00439-011-0950-8
- By:
- Publication type:
- Article
Treatment effect, adherence, and safety of high fluid intake for the prevention of incident and recurrent kidney stones: a systematic review and meta-analysis.
- Published in:
- Journal of Nephrology (JNonline), 2016, v. 29, n. 2, p. 211, doi. 10.1007/s40620-015-0210-4
- By:
- Publication type:
- Article
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 4257, doi. 10.1172/JCI64313
- By:
- Publication type:
- Article
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele.
- Published in:
- Kidney International, 2005, v. 67, n. 5, p. 1704, doi. 10.1111/j.1523-1755.2005.00267.x
- By:
- Publication type:
- Article
Mitochondrial causes of renal insufficiency and hearing loss.
- Published in:
- 2004
- By:
- Publication type:
- Letter
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
- Published in:
- Kidney International, 2003, v. 64, n. 2, p. 391, doi. 10.1046/j.1523-1755.2003.00111.x
- By:
- Publication type:
- Article
A complete mutation screen of the ADPKD genes by DHPLC.
- Published in:
- Kidney International, 2002, v. 61, n. 5, p. 1588, doi. 10.1046/j.1523-1755.2002.00326.x
- By:
- Publication type:
- Article
Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Sharing data between LSDBs and central repositories.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 493, doi. 10.1002/humu.20977
- By:
- Publication type:
- Article
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 453, doi. 10.1002/humu.20029
- By:
- Publication type:
- Article
Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome.
- Published in:
- Human Mutation, 1998, v. 11, p. S106, doi. 10.1002/humu.1380110135
- By:
- Publication type:
- Article
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
- Published in:
- Human Mutation, 1997, v. 10, n. 2, p. 164, doi. 10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO;2-K
- By:
- Publication type:
- Article
A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 386, doi. 10.1002/humu.1380030410
- By:
- Publication type:
- Article
End-stage renal disease in autosomal dominant polycystic kidney disease: a comparison of dialysis-related utilization and costs with other chronic kidney diseases.
- Published in:
- ClinicoEconomics & Outcomes Research, 2015, v. 7, p. 65, doi. 10.2147/CEOR.S76269
- By:
- Publication type:
- Article
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 5, p. 261, doi. 10.1111/j.1399-0004.1995.tb04101.x
- By:
- Publication type:
- Article
Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD.
- Published in:
- Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0095-x
- By:
- Publication type:
- Article
PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 6, p. 685, doi. 10.1093/hmg/ddg068
- By:
- Publication type:
- Article
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1331
- By:
- Publication type:
- Article
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 1, p. 201
- By:
- Publication type:
- Article
Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.
- Published in:
- BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-190
- By:
- Publication type:
- Article
Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.
- Published in:
- 2013
- By:
- Publication type:
- journal article