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Clinical journal of the American Society of Nephrology, ISSN 1555-905X, 12/2017, Volume 12, Issue 12, pp. 1974 - 1983
Background and objectives Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date,... 
Prevalence | Nephronophthisis related ciliopathy | Ciliopathies | Joubert-like syndromes | NEPHREG registry | Bardet-Biedl syndrome | Senior-Løken syndrome | Congenital oculomotor apraxia | Genetic heterogeneity | Kidney diseases, cystic | Homozygote | Kidney failure, chronic | Nephronophthisis (NPH) | Adolescent | Mainzer-Saldino syndrome | Registries | Mutation | COACH syndrome | Nephronophthisis, familial juvenile | Cross-Sectional studies | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Polyuria - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Ciliopathies - complications | Nervous System Diseases - genetics | Young Adult | Ciliopathies - genetics | Anemia - genetics | Kidney - diagnostic imaging | Ultrasonography | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Female | Glomerular Filtration Rate - genetics | Neoplasm Proteins - genetics | Child | Calmodulin-Binding Proteins - genetics | Kidney Failure, Chronic - physiopathology | Antigens, Neoplasm - genetics | Cross-Sectional Studies | Membrane Proteins - genetics | Kidney Failure, Chronic - genetics | Proteins - genetics | Carrier Proteins - genetics | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Longitudinal Studies | Index Medicus | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
Journal Article
Scientific reports, ISSN 2045-2322, 11/2018, Volume 8, Issue 1, pp. 16733 - 10
Senior Loken syndrome (SLS) is a heterogeneous disorder characterized by severe retinal degenerations and juvenile-onset nephronophthisis. Genetic variants in... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Autism | Genetic variance | Hyperinsulinemia | Nephronophthisis | Exons | Retinal degeneration | Reverse transcription | Retina | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Journal Article
Scientific reports, ISSN 2045-2322, 05/2019, Volume 9, Issue 1, pp. 6849 - 6849
Thymosin beta-4(T beta 4) is an actin-sequestering protein involved in tumor malignancy. Primary cilia, microtubule-based organelles, are present in most... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Transformation | Nephronophthisis | Malignancy | Cervix | Kinases | Organelles | Mammalian cells | Actin | Tumorigenesis | Immunofluorescence | Localization | Cervical cancer | Cilia | Index Medicus
Journal Article
Journal of the American Society of Nephrology, ISSN 1533-3450, 06/2018, Volume 29, Issue 6, pp. 1772 - 1779
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 11/2014, Volume 25, Issue 11, pp. 2435 - 2443
Journal Article
Molecular syndromology, ISSN 1661-8769, 09/2011, Volume 1, Issue 6, pp. 273 - 281
The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl... 
Original Article | Ciliopathy | Bardet-Biedl | Nephronophthisis | Polydactyly | SDCCAG8 | Original
Journal Article