X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (667) 667
Book Review (92) 92
Publication (82) 82
Book Chapter (17) 17
Conference Proceeding (2) 2
Magazine Article (1) 1
Presentation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (486) 486
nephronophthisis (482) 482
humans (431) 431
female (227) 227
male (224) 224
urology & nephrology (189) 189
animals (170) 170
mutation (159) 159
genetics & heredity (149) 149
child (139) 139
kidney diseases, cystic - genetics (137) 137
juvenile nephronophthisis (128) 128
gene (123) 123
mutations (114) 114
mice (102) 102
adult (101) 101
pediatrics (101) 101
adolescent (91) 91
genetic aspects (91) 91
protein (91) 91
kidney diseases (90) 90
polycystic kidney-disease (87) 87
joubert-syndrome (84) 84
cilia (81) 81
disease (80) 80
familial juvenile nephronophthisis (79) 79
syndrome (79) 79
joubert syndrome (78) 78
pedigree (78) 78
child, preschool (76) 76
phenotype (76) 76
primary cilia (72) 72
ciliopathies (69) 69
proteins - genetics (68) 68
research (66) 66
biochemistry & molecular biology (63) 63
cell biology (60) 60
children (59) 59
article (57) 57
ciliopathy (57) 57
bardet-biedl-syndrome (56) 56
cilia - metabolism (56) 56
genes (56) 56
kidney - pathology (54) 54
genetics (53) 53
infant (52) 52
nephrology (52) 52
identification (48) 48
polycystic kidney disease (48) 48
proteins (47) 47
kidney diseases - genetics (45) 45
analysis (44) 44
kidney diseases, cystic - pathology (44) 44
diagnosis (43) 43
adaptor proteins, signal transducing - genetics (42) 42
dna mutational analysis (42) 42
gene mutations (42) 42
magnetic resonance imaging (42) 42
kidney (41) 41
centrosomal protein (40) 40
cilia - pathology (39) 39
molecular sequence data (39) 39
signal transduction (39) 39
cerebellum - abnormalities (38) 38
locus (38) 38
abnormalities, multiple - genetics (37) 37
homozygote (37) 37
kidneys (37) 37
membrane proteins - genetics (37) 37
polycystic kidney diseases - genetics (37) 37
domain protein (36) 36
kidney diseases, cystic - metabolism (36) 36
medicine & public health (36) 36
fibrosis (35) 35
kidney diseases, cystic - diagnosis (35) 35
kidney failure, chronic - genetics (35) 35
membrane proteins (35) 35
retinal degeneration (35) 35
cysts (34) 34
disease models, animal (33) 33
encodes (33) 33
interacts (33) 33
kidney-disease (33) 33
primary cilium (33) 33
senior-loken syndrome (33) 33
kidney - metabolism (32) 32
chromosome mapping (31) 31
localization (31) 31
nephrocystin (31) 31
physiological aspects (31) 31
cystic kidney disease (30) 30
risk factors (30) 30
adaptor proteins, signal transducing (29) 29
expression (29) 29
kidney transplantation (29) 29
polycystic kidney, autosomal dominant - genetics (29) 29
cell line (28) 28
gene expression (28) 28
genetic disorders (28) 28
transplantation (28) 28
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (638) 638
German (17) 17
French (12) 12
Spanish (6) 6
Italian (4) 4
Polish (2) 2
Chinese (1) 1
Czech (1) 1
Japanese (1) 1
Korean (1) 1
Portuguese (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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 | Index Medicus | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
Journal Article
OPHTHALMOLOGE, ISSN 0941-293X, 10/2018, Volume 115, Issue 10, pp. 883 - 884
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
Journal Article
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
Nature Genetics, ISSN 1061-4036, 08/2003, Volume 34, Issue 4, pp. 413 - 420
Journal Article
The American Journal of Pathology, ISSN 0002-9440, 09/2018, Volume 188, Issue 9, pp. 2120 - 2138
The distal tubule (DT) helps regulate blood pressure and electrolytes. We describe a novel, autosomal recessive, morphofunctional DT abnormality in inbred mice... 
FIBROSIS | CYST FORMATION | POLYCYSTIC KIDNEY-DISEASE | GREB1 | NEPHRONOPHTHISIS | ACIDOSIS | MICE | MUTATIONS | PATHOLOGY | ASSOCIATION | MRL/MPJ
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 06/2018, Volume 29, Issue 6, pp. 1583 - 1584
Journal Article
Nephron, ISSN 1660-8151, 08/2018, Volume 140, Issue 1, pp. 74 - 78
Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal recessive disorders characterized by renal corticomedullary cysts with the extrarenal symptoms.... 
Experimental Nephrology and Genetics: Case Study of Genetic Interest | Ciliopathy | End-stage kidney disease | Nephronophthisis-related ciliopathies | Nephronophthisis | Next-generation sequencing | Renal replacement therapy | RPGRIP1L | Liver cirrhosis | SYNDROME JOUBERT-SYNDROME | GENE | DISEASE | UROLOGY & NEPHROLOGY
Journal Article
Kidney International, ISSN 0085-2538, 08/2019, Volume 96, Issue 2, pp. 320 - 326
Nephronophthisis is an autosomal recessive kidney disease with high genetic heterogeneity. Understanding the functions of the individual genes contributing to... 
cilia | nephronophthisis | centrosome | polycystic kidney disease | CEP164 | APPENDAGES | DOCKING | EARLY STEPS | CENTRIOLE | DISEASE | UROLOGY & NEPHROLOGY | CILIOGENESIS | INHIBITOR
Journal Article