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Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 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 | ADOLESCENT NEPHRONOPHTHISIS | JOUBERT-SYNDROME | FAMILIAL JUVENILE NEPHRONOPHTHISIS | SENIOR-LOKEN SYNDROME | CYSTIC KIDNEY-DISEASE | GENE | RENAL-FAILURE | UROLOGY & NEPHROLOGY | NPHP3 | MUTATIONS | DOMAIN PROTEIN | 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 | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 45 - 54
Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited diseases that are associated with defects in primary cilium structure and function.... 
nephronophthisis-related ciliopathy | nephronophthisis | ADAMTS9 | Joubert syndrome | metalloproteinase | EXTRACELLULAR-MATRIX | LINKAGE ANALYSIS | GENETICS & HEREDITY | Gene mutations | Physiological aspects | Genetic aspects | Research | Diagnosis | Metalloenzymes
Journal Article
by Otto, Edgar A and Ramaswami, Gokul and Janssen, Sabine and Chaki, Moumita and Allen, Susan J and Zhou, Weibin and Airik, Rannar and Hurd, Toby W and Ghosh, Amiya K and Wolf, Matthias T and Hoppe, Bernd and Neuhaus, Thomas J and Bockenhauer, Detlef and Milford, David V and Soliman, Neveen A and Antignac, Corinne and Saunier, Sophie and Johnson, Colin A and Hildebrandt, Friedhelm and Bergmann, C and Zerres, K and Gellermann, J and Münch, A and Neumann, L and Schürmann, M.J and Franke, I and Beck, B and Josefiak, K and Michalk, D and Stapenhorst, Stapenhorst and Ronda, T and Weber, M and Erler, T and Weidner, B and Bonzel, K.E and Wingen, A.-M and Dippell, J and Kirschner, J and Korinthenberg, R and Mall, M and Omran, H and Wolff, G and Fuchs, S and Gal, A and Van Husen, M and Lüttgen, S and Müller-Wiefel, D.E and Drube, J and Ehrich, J.H.H and Fründ, S and Strehlau, J and Hoffmann, G.F and Kiepe, D and Kneppo, C and Rieger, S and Tönshoff, B and Bambauer, R and Klüte, R and Heckel, M and Greiner, A and Jeck, N and Roos, R and Bulla, M and Fründ, S and Frye, B and Harms, E and Kuwertz-Broeking, E and Wittwer, B and Sanwald, R and Stolpe, H.-J and Höpfner, J and Holder, M and Leichter, H.-E and Baynam, G and Edwards, C and Peters, H and Jones, C and Janecke, A and Sunder-Plassmann, G and Devriendt, K and Chow, J and Tmka, P and Õunap, K and Apostolou, T and Afroze, B and Lock Hock, N and Eccles, M and Dixon, J.W and Hashmi, S and Drozdz, D and Pogan, A and Peco-Antic, A and Milosevic, B and Stojanovic, V and Holmberg, E and Kern, I and Axwijk, P.H and Knoers, N and Ozaltin, F and Besbas, N and ... and GPN Study Grp and GPN Study Group and the GPN Study Group
Journal of Medical Genetics, ISSN 0022-2593, 02/2011, Volume 48, Issue 2, pp. 105 - 116
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2003, Volume 34, Issue 4, pp. 413 - 420
Journal Article