Found: 53
Select item for more details and to access through your institution.
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
- Published in:
- BMC Bioinformatics, 2016, v. 17, p. 1, doi. 10.1186/s12859-016-1108-4
- By:
- Publication type:
- Article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
- Published in:
- 2013
- By:
- Publication type:
- journal article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ<sub>10</sub> biosynthesis disruption.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 12, p. 5179, doi. 10.1172/JCI69000
- By:
- Publication type:
- Article
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies and NPHP3 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1743, doi. 10.1002/ajmg.a.35958
- By:
- Publication type:
- Article
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
- Published in:
- Kidney International, 2014, v. 85, n. 4, p. 880, doi. 10.1038/ki.2013.450
- By:
- Publication type:
- Article
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
- Published in:
- Kidney International, 2012, v. 81, n. 2, p. 196, doi. 10.1038/ki.2011.315
- By:
- Publication type:
- Article
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
- Published in:
- Kidney International, 2011, v. 80, n. 11, p. 1239, doi. 10.1038/ki.2011.284
- By:
- Publication type:
- Article
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 951, doi. 10.1038/ng.2681
- By:
- Publication type:
- Article
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 910, doi. 10.1038/ng.2347
- By:
- Publication type:
- Article
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 776, doi. 10.1038/ng.891
- By:
- Publication type:
- Article
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 840, doi. 10.1038/ng.662
- By:
- Publication type:
- Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 175, doi. 10.1038/ng.519
- By:
- Publication type:
- Article
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 1018, doi. 10.1038/ng2072
- By:
- Publication type:
- Article
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 674, doi. 10.1038/ng1786
- By:
- Publication type:
- Article
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 282, doi. 10.1038/ng1520
- By:
- Publication type:
- Article
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 455, doi. 10.1038/ng1216
- By:
- Publication type:
- Article
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 413, doi. 10.1038/ng1217
- By:
- Publication type:
- Article
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 310
- By:
- Publication type:
- Article
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130729
- By:
- Publication type:
- Article
Orbital Tissue-Derived T Lymphocytes from Patients with Graves’ Ophthalmopathy Recognize Autologous Orbital Antigens.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 8, p. 3045, doi. 10.1210/jcem.81.8.8768872
- By:
- Publication type:
- Article
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
- Published in:
- Nature Reviews Genetics, 2005, v. 6, n. 12, p. 928, doi. 10.1038/nrg1727
- By:
- Publication type:
- Article
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
- Published in:
- Human Genetics, 2013, v. 132, n. 8, p. 865, doi. 10.1007/s00439-013-1297-0
- By:
- Publication type:
- Article
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
- Published in:
- Human Genetics, 2011, v. 129, n. 1, p. 79, doi. 10.1007/s00439-010-0902-8
- By:
- Publication type:
- Article
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
- Published in:
- Human Genetics, 2006, v. 119, n. 6, p. 649, doi. 10.1007/s00439-006-0176-3
- By:
- Publication type:
- Article
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00309-w
- By:
- Publication type:
- Article
Clinical Characterization and NPHP1 Mutations in Nephronophthisis and Associated Ciliopathies: A Single Center Experience.
- Published in:
- Saudi Journal of Kidney Diseases & Transplantation, 2012, v. 23, n. 5, p. 1090, doi. 10.4103/1319-2442.100968
- By:
- Publication type:
- Article
Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Barttin is a Cl[sup -] channel beta-subunit crucial for renal Cl[sup -] reabsorption and inner....
- Published in:
- Nature, 2001, v. 414, n. 6863, p. 558
- By:
- Publication type:
- Article
Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 3, p. 467, doi. 10.1007/s00467-016-3513-3
- By:
- Publication type:
- Article
A boy with proteinuria and focal global glomerulosclerosis: Question.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 11, p. 1945, doi. 10.1007/s00467-014-2959-4
- By:
- Publication type:
- Article
A boy with proteinuria and focal global glomerulosclerosis: Answers.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 11, p. 1947, doi. 10.1007/s00467-014-2961-x
- By:
- Publication type:
- Article
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.
- Published in:
- 2011
- By:
- Publication type:
- Report
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 1, p. 55, doi. 10.1007/s00467-008-1016-6
- By:
- Publication type:
- Article
Mutational analysis in 119 families with nephronophthisis.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 3, p. 366, doi. 10.1007/s00467-006-0334-9
- By:
- Publication type:
- Article
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 1, p. 32, doi. 10.1007/s00467-005-2054-y
- By:
- Publication type:
- Article
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
- Published in:
- Pediatric Nephrology, 2003, v. 18, n. 2, p. 105, doi. 10.1007/s00467-002-1018-8
- By:
- Publication type:
- Article
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 418, doi. 10.1002/humu.20669
- By:
- Publication type:
- Article
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 411, doi. 10.1002/humu.9326
- By:
- Publication type:
- Article
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 5, p. 1496, doi. 10.1093/ndt/gfp650
- By:
- Publication type:
- Article
Retinitis pigmentosa and renal failure in a patient with mutations in INVS.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 7, p. 1989, doi. 10.1093/ndt/gfl088
- By:
- Publication type:
- Article
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4226, doi. 10.1093/hmg/ddp387
- By:
- Publication type:
- Article
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3655, doi. 10.1093/hmg/ddn260
- By:
- Publication type:
- Article
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 11, p. 1847, doi. 10.1093/hmg/ddl107
- By:
- Publication type:
- Article
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints.
- Published in:
- Human Mutation, 2000, v. 16, n. 3, p. 211, doi. 10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y
- By:
- Publication type:
- Article
Telomeric refinement of the MCKD1 locuson chromosome 1q21.
- Published in:
- Kidney International, 2004, v. 66, n. 2, p. 580, doi. 10.1111/j.1523-1755.2004.00799.x
- By:
- Publication type:
- Article
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
- Published in:
- Kidney International, 2003, v. 64, n. 5, p. 1580, doi. 10.1046/j.1523-1755.2003.00269.x
- By:
- Publication type:
- Article