X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (191) 191
male (116) 116
female (111) 111
genetics & heredity (108) 108
adult (66) 66
mutation (66) 66
index medicus (57) 57
pedigree (48) 48
middle aged (40) 40
animals (35) 35
child (35) 35
genes (35) 35
biochemistry & molecular biology (33) 33
genetics (33) 33
phenotype (33) 33
genetic aspects (31) 31
mice (29) 29
polycystic kidney, autosomal dominant - genetics (29) 29
gene (28) 28
adolescent (26) 26
child, preschool (26) 26
molecular sequence data (25) 25
base sequence (24) 24
chromosomes, human, pair 16 (23) 23
pkd1 (23) 23
research (23) 23
in situ hybridization, fluorescence (22) 22
analysis (20) 20
chromosome mapping (20) 20
polycystic kidney disease (20) 20
trpp cation channels (20) 20
diagnosis (19) 19
gene mutations (19) 19
infant (19) 19
mutations (19) 19
dna mutational analysis (18) 18
expression (18) 18
aged (17) 17
amino acid sequence (17) 17
proteins - genetics (17) 17
urology & nephrology (17) 17
intellectual disability - genetics (16) 16
protein (16) 16
syndrome (16) 16
locus (15) 15
netherlands (15) 15
polymerase chain reaction (15) 15
sequence deletion (15) 15
cloning, molecular (14) 14
exons (14) 14
gene deletion (14) 14
genetic testing (14) 14
identification (14) 14
chromosome aberrations (13) 13
chromosomes, human, pair 16 - genetics (13) 13
cosmids (13) 13
gene expression (13) 13
genetic variation (13) 13
genotype (13) 13
abnormalities, multiple - genetics (12) 12
adpkd (12) 12
alleles (12) 12
article (12) 12
chromosome deletion (12) 12
genetic linkage (12) 12
haplotypes (12) 12
heterozygote (12) 12
nuclear proteins - genetics (12) 12
polymorphism, single nucleotide (12) 12
risk factors (12) 12
immunohistochemistry (11) 11
karyotyping (11) 11
membrane proteins - genetics (11) 11
mental retardation (11) 11
oncology (11) 11
rubinstein-taybi syndrome - genetics (11) 11
young adult (11) 11
dna (10) 10
genetic markers (10) 10
genotype & phenotype (10) 10
infant, newborn (10) 10
localization (10) 10
neuronal ceroid-lipofuscinoses - genetics (10) 10
pathology (10) 10
patients (10) 10
polycystic kidney, autosomal dominant - physiopathology (10) 10
polycystic kidney-disease (10) 10
polymorphism, genetic (10) 10
proteins (10) 10
translocation, genetic (10) 10
cancer (9) 9
creb-binding protein (9) 9
exons - genetics (9) 9
family (9) 9
genetic heterogeneity (9) 9
growth (9) 9
kidney - pathology (9) 9
pregnancy (9) 9
rubinstein-taybi syndrome (9) 9
chromosome-16 (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Genetics in Medicine, ISSN 1098-3600, 01/2015, Volume 17, Issue 1, pp. 89 - 90
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 2013, Volume 157, Issue 21
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 435 - 439, S1-2
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2014, Volume 16, Issue 6, pp. 425 - 432
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 595 - 606
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1375 - 1381
Journal Article
Oncotarget, ISSN 1949-2553, 01/2015, Volume 6, Issue 36, pp. 38777 - 38788
textabstractSuccinate dehydrogenase (SDH) and fumarate hydratase (FH) are tricarboxylic acid (TCA) cycle enzymes and tumor suppressors. Loss-of-function... 
Hereditary leiomyomatosis and renal cell carcinoma | Paraganglioma | Fumarate hydratase | Succinate dehydrogenase | Methylation
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 03/2009, Volume 153, Issue 10, pp. 428 - 429
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2010
Although sequencing of a human genome gradually becomes an option, zooming in on the region of interest remains attractive and cost saving. We performed... 
Journal Article
Journal Article
American Journal of Physiology - Renal Physiology, ISSN 1931-857X, 05/2011, Volume 300, Issue 5, pp. 1193 - 1202
Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in either the PKD1 or PKD2 gene is a major cause of end-stage renal failure. A number... 
Multitarget therapy | Autosomal dominant polycystic kidney disease | Signal transducers and activator of transcription 3 | Mammalian target of rapamycin | CANCER-CELLS | MAMMALIAN TARGET | PHYSIOLOGY | TRITERPENOIDS | POLYCYSTIC KIDNEY-DISEASE | PANCREATIC-CANCER | PLANAR CELL POLARITY | signal transducers and activator of transcription 3 | autosomal dominant polycystic kidney disease | BETA-CATENIN | mammalian target of rapamycin | CYST FORMATION | PROSTATE-CANCER | UROLOGY & NEPHROLOGY | AUTOSOMAL-DOMINANT | multitarget therapy | Renal Insufficiency - enzymology | Phosphorylation | Kidney - pathology | TOR Serine-Threonine Kinases - metabolism | Kidney - enzymology | Polycystic Kidney, Autosomal Dominant - pathology | Renal Insufficiency - prevention & control | Dose-Response Relationship, Drug | Polycystic Kidney, Autosomal Dominant - genetics | Polycystic Kidney, Autosomal Dominant - enzymology | STAT3 Transcription Factor - metabolism | Cytoprotection | Disease Models, Animal | Renal Insufficiency - genetics | Kidney - drug effects | Cells, Cultured | Curcumin - pharmacology | Polycystic Kidney, Autosomal Dominant - prevention & control | TRPP Cation Channels - deficiency | TRPP Cation Channels - genetics | Mice, Knockout | Organ Size - drug effects | Animals | Signal Transduction - drug effects | Renal Insufficiency - pathology | Ribosomal Protein S6 - metabolism | Cell Proliferation - drug effects | Mice | Turmeric | Care and treatment | Gene mutations | Cellular signal transduction | Genetic aspects | Research | Health aspects | Risk factors | Polycystic kidney disease
Journal Article
by Santen, Gijs W. E and Aten, Emmelien and Vulto-van Silfhout, Anneke T and Pottinger, Caroline and van Bon, Bregje W. M and van Minderhout, Ivonne J. H. M and Snowdowne, Ronelle and van der Lans, Christian A. C and Boogaard, Merel and Linssen, Margot M. L and Vijfhuizen, Linda and van der Wielen, Michiel J. R and Vollebregt, M. J. Ellen and Breuning, Martijn H and Kriek, Marjolein and van Haeringen, Arie and den Dunnen, Johan T and Hoischen, Alexander and Clayton-Smith, Jill and de Vries, Bert B. A and Hennekam, Raoul C. M and van Belzen, Martine J and Almureikhi, Mariam and Baban, Anwar and Barbosa, Mafalda and Ben-Omran, Tawfeg and Berry, Katherine and Bigoni, Stefania and Boute, Odile and Brueton, Louise and van der Burgt, Ineke and Canham, Natalie and Chandler, Kate E and Chrzanowska, Krystyna and Collins, Amanda L and de Toni, Teresa and Dean, John and den Hollander, Nicolette S and Flore, Leigh Anne and Fryer, Alan and Gardham, Alice and Graham, John M and Harrison, Victoria and Horn, Denise and Jongmans, Marjolijn C and Josifova, gana and Kant, Sarina G and Kapoor, Seema and Kingston, Helen and Kini, Usha and Kleefstra, Tjitske and Krajewska-Walasek, Małgorzata and Kramer, Nancy and Maas, Saskia M and Maciel, Patricia and Mancini, Grazia M. S and Maystadt, Isabelle and McKee, Shane and Milunsky, Jeff M and Nampoothiri, Sheela and Newbury-Ecob, Ruth and Nikkel, Sarah M and Parker, Michael J and Pérez-Jurado, Luis A and Robertson, Stephen P and Rooryck, Caroline and Shears, Debbie and Silengo, Margherita and Singh, Ankur and Smigiel, Robert and Soares, Gabriela and Splitt, Miranda and Stewart, Helen and Sweeney, Elizabeth and Tassabehji, May and Tuysuz, Beyhan and van Eerde, Albertien M and Vincent-Delorme, Catherine and Wilson, Louise C and Yesil, Gozde and Coffin-Siris Consortium and Coffin-Siris consortium and the Coffin-Siris consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article