X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (63) 63
female (47) 47
index medicus (44) 44
male (41) 41
urology & nephrology (30) 30
adult (23) 23
mutation (22) 22
nephritis, hereditary - genetics (20) 20
alport syndrome (19) 19
genetics & heredity (19) 19
animals (18) 18
child (18) 18
collagen type iv - genetics (15) 15
mice (15) 15
pedigree (15) 15
adolescent (13) 13
phenotype (13) 13
gene (12) 12
genetic aspects (12) 12
iv collagen (12) 12
urologic and male genital diseases (11) 11
children (10) 10
identification (10) 10
middle aged (10) 10
dna mutational analysis (9) 9
expression (9) 9
hepatocyte nuclear factor 1-beta - genetics (9) 9
heterozygote (9) 9
kidney - abnormalities (9) 9
kidney diseases (9) 9
mutations (9) 9
nephrology (9) 9
pregnancy (9) 9
research (9) 9
base sequence (8) 8
child, preschool (8) 8
collagen - genetics (8) 8
gene deletion (8) 8
glomerular basement membrane (8) 8
kidney - pathology (8) 8
mutation - genetics (8) 8
pediatrics (8) 8
autoantigens - genetics (7) 7
disease (7) 7
exons (7) 7
female genital diseases and pregnancy complications (7) 7
genetics (7) 7
kidney - physiopathology (7) 7
kidney diseases - genetics (7) 7
mouse model (7) 7
natural-history (7) 7
nephritis, hereditary - complications (7) 7
nephritis, hereditary - pathology (7) 7
renal-failure (7) 7
retrospective studies (7) 7
smooth-muscle tumors (7) 7
ultrasonography, prenatal (7) 7
young adult (7) 7
alpha-5 (6) 6
biochemistry & molecular biology (6) 6
chain (6) 6
col4a3 (6) 6
col4a4 (6) 6
col4a5 (6) 6
collagen (6) 6
genetic predisposition to disease (6) 6
genotype-phenotype correlations (6) 6
immunohistochemistry (6) 6
kidneys (6) 6
molecular sequence data (6) 6
nephrotic syndrome (6) 6
obstetrics & gynecology (6) 6
risk factors (6) 6
urogenital system (6) 6
195 families (5) 5
aged (5) 5
article (5) 5
basement-membrane collagen (5) 5
col4a6 (5) 5
defects (5) 5
diffuse leiomyomatosis (5) 5
esophageal neoplasms - genetics (5) 5
gene mutations (5) 5
genes, dominant (5) 5
genetic counseling (5) 5
infant (5) 5
infant, newborn (5) 5
kidney development (5) 5
kidney glomerulus - pathology (5) 5
life sciences (5) 5
mice, knockout (5) 5
nephritis, hereditary - therapy (5) 5
pathology (5) 5
prognosis (5) 5
type iv collagen (5) 5
abridged index medicus (4) 4
alport's syndrome (4) 4
amniotic fluid (4) 4
analysis (4) 4
basement membrane - pathology (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Prenatal Diagnosis, ISSN 0197-3851, 08/2016, Volume 36, Issue 8, pp. 744 - 751
Journal Article
Kidney International, ISSN 0085-2538, 03/2012, Volume 81, Issue 5, pp. 494 - 501
Journal Article
Journal Article
Nephrologie et Therapeutique, ISSN 1769-7255, 12/2016, Volume 12, Issue 7, pp. 544 - 551
Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the... 
Collagen IV | Macrothrombocytopathy | COL4A4 | Alport syndrome | COL4A3 | Diffuse oesophageal leiomyomatosis | COL4A6 | COL4A5 | Glomerular basement membrane
Journal Article
Nature Communications, ISSN 2041-1723, 01/2016, Volume 7, Issue 1, pp. 10330 - 10330
Journal Article
Néphrologie & Thérapeutique, ISSN 1769-7255, 12/2016, Volume 12, Issue 7, pp. 544 - 551
Le syndrome d’Alport est une affection héréditaire caractérisée par l’association d’une néphropathie hématurique progressive avec anomalies ultrastructurales... 
Collagen IV | Macrothrombocytopathy | Thrombopathie à plaquettes géantes | Syndrome d’Alport | COL4A4 | COL4A3 | Membrane basale glomérulaire | Diffuse oesophageal leiomyomatosis | Alport syndrome | COL4A6 | Collagène IV | COL4A5 | Glomerular basement membrane | Léiomyomatose œsophagienne diffuse
Journal Article
Nephrologie & Therapeutique, ISSN 1769-7255, 12/2016, Volume 12, Issue 7, p. 544
Le syndrome d'Alport est une affection hereditaire caracterisee par l'association d'une nephropathie hematurique progressive avec anomalies ultrastructurales... 
Enzymes | Collagen | Genes | Bone morphogenetic proteins | Genetic aspects | Kidney diseases
Journal Article
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 10/2011, Volume 6, Issue 10, pp. 2429 - 2438
Background UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are... 
CYSTIC KIDNEY-DISEASE | UROMODULIN GENE | CHROMOSOME 1Q21 | RENAL-FAILURE | UROLOGY & NEPHROLOGY | LOCUS | JUVENILE HYPERURICEMIC NEPHROPATHY | TAMM-HORSFALL GLYCOPROTEIN | URIC-ACID | FAMILY | CHILDREN | Central Nervous System Diseases - genetics | Kidney Diseases, Cystic - diagnosis | Exons | Nephritis, Interstitial - diagnosis | Diabetes Mellitus, Type 2 - genetics | Humans | Male | Central Nervous System Diseases - blood | Young Adult | DNA Mutational Analysis | Kidney Diseases, Cystic - genetics | Adult | Female | Kidney Diseases, Cystic - blood | Retrospective Studies | Uric Acid - blood | Uromodulin - genetics | Central Nervous System Diseases - physiopathology | Hepatocyte Nuclear Factor 1-beta - genetics | Kidney Diseases, Cystic - physiopathology | Nephritis, Interstitial - blood | Dental Enamel - physiopathology | Genetic Predisposition to Disease | Glomerular Filtration Rate | Risk Assessment | Hyperuricemia - diagnosis | Risk Factors | Nephritis, Interstitial - physiopathology | Hyperuricemia - physiopathology | Heredity | Biomarkers - blood | Chi-Square Distribution | Kidney Failure, Chronic - genetics | Diabetes Mellitus, Type 2 - diagnosis | Hyperuricemia - genetics | Diabetes Mellitus, Type 2 - blood | Hyperuricemia - blood | Phenotype | Diabetes Mellitus, Type 2 - physiopathology | Belgium | Nephritis, Interstitial - genetics | Pedigree | Dental Enamel - abnormalities | Central Nervous System Diseases - diagnosis | Gout - genetics | Mutation | Paris | Polycystic Kidney, Autosomal Dominant | Original
Journal Article
by Lopez-Rivera, Esther and Liu, Qingxue and Liu, Yangfan P and Verbitsky, Miguel and Anderson, Blair R and Capone, Valentina P and Otto, Edgar A and Yan, Zhonghai and Mitrotti, Adele and Martino, Jeremiah and Steers, Nicholas J and Fasel, David A and Vukojevic, Katarina and Deng, Rong and Racedo, Silvia E and Werth, Max and Westland, Rik and Vivante, Asaf and Makar, Gabriel S and Bodria, Monica and Sampson, Matthew G and Gillies, Christopher E and Vega-Warner, Virginia and Maiorana, Mariarosa and Petrey, Donald S and Honig, Barry and Lozanovski, Vladimir J and Salomon, Rémi and Heidet, Laurence and Carpentier, Wassila and Gaillard, Dominique and Carrea, Alba and Gesualdo, Loreto and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A.E and Arapovic, Adela and Saraga-Babic, Mirna and Saraga, Marijan and Kunac, Nenad and Samii, Ali and McDonald-McGinn, Donna M and Crowley, Terrence B and Zackai, Elaine H and Drozdz, Dorota and Miklaszewska, Monika and Tkaczyk, Marcin and Sikora, Przemyslaw and Szczepanska, Maria and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Darlow, John M and Puri, Prem and Barton, David and Casolari, Emilio and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Hakonarson, Hakon and Flogelova, Hana and Tasic, Velibor and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Allegri, Landino and Wong, Craig S and Drummond, Iain A and D’Agati, Vivette and Imamoto, Akira and Barasch, Jonathan M and Hildebrandt, Friedhelm and Kiryluk, Krzysztof and Lifton, Richard P and Morrow, Bernice E and Jeanpierre, Cecile and Papaioannou, Virginia E and Ghiggeri, Gian Marco and Gharavi, Ali G and Katsanis, Nicholas and Sanna-Cherchi, Simone
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Journal Article