Condition: Nephronophthisis


rs1060499781 in CEP290 gene and Nephronophthisis PMID 16909394 2006 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

PMID 17345604 2007 Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

PMID 21153841 2011 Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

PMID 23351400 2012 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

PMID 29588463 2018 Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

PMID 22355252 2012 Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

PMID 21245082 2011 Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

PMID 23954617 2013 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

PMID 17564967 2007 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

PMID 16682973 2006 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

PMID 25818971 2016 Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 23344081 2012 AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

PMID 28497568 2017 Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PMID 17564974 2007 Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

PMID 29398085 2018 Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

PMID 25445212 2015 Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 23188109 2012 High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

PMID 17409309 2007 High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 17617513 2007 Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

rs61893682 in INCENP gene and Nephronophthisis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

rs121964994 in INVS gene and Nephronophthisis PMID 12872123 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

rs1280238814 in IQCB1 gene and Nephronophthisis PMID 25851290 2015 Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.

PMID 20881296 2011 IQCB1 mutations in patients with leber congenital amaurosis.

PMID 24674142 2013 Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.

PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

PMID 26274329 2015 Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

PMID 23188109 2012 High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.

PMID 23446637 2013 Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.

PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 28832562 2017 A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

rs765263671 in NPHP1 gene and Nephronophthisis PMID 18076122 2008 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

PMID 16762963 2006 Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.

rs201237799 in NPHP3-ACAD11;NPHP3 gene and Nephronophthisis PMID 19177160 2009 Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

rs119456959 in NPHP3;NPHP3-ACAD11 gene and Nephronophthisis PMID 12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

PMID 19303681 2009 Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

rs137852919 in NPHP4 gene and Nephronophthisis PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

PMID 12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

rs774456004 in PIAS1 gene and Nephronophthisis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

rs369925690 in PKHD1 gene and Nephronophthisis PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

PMID 15805161 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

rs549662742 in PRPF40B;FAM186B gene and Nephronophthisis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

rs372607453 in RBM48 gene and Nephronophthisis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

rs201893408 in TMEM67 gene and Nephronophthisis PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 19508969 2009 When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.

rs758593134 in TMTC3;CEP290 gene and Nephronophthisis PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs1553508246 in TTC21B gene and Nephronophthisis PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs140511594 in TTC21B;TTC21B-AS1 gene and Nephronophthisis PMID 24876116 2014 Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation.

PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.