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karin dahan
karin dahan
Directeur du Centre de Génétique de l'IPG
Verified email at ipg.be
Title
Cited by
Cited by
Year
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
N Boute, O Gribouval, S Roselli, F Benessy, H Lee, A Fuchshuber, ...
Nature genetics 24 (4), 349-354, 2000
18122000
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
SS Strautnieks, LN Bull, AS Knisely, SA Kocoshis, N Dahl, H Arnell, ...
Nature genetics 20 (3), 233-238, 1998
11811998
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport Syndrome Concerted …
JP Jais, B Knebelmann, I Giatras, M De Marchi, G Rizzoni, A Renieri, ...
Journal of the American Society of Nephrology 14 (10), 2603-2610, 2003
5452003
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717-726, 2015
4012015
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—a KDIGO consensus report
KU Eckardt, SL Alper, C Antignac, AJ Bleyer, D Chauveau, K Dahan, ...
Kidney international 88 (4), 676-683, 2015
3352015
Spectrum of mutations in Gitelman syndrome
R Vargas-Poussou, K Dahan, D Kahila, A Venisse, E Riveira-Munoz, ...
Journal of the American Society of Nephrology 22 (4), 693-703, 2011
2532011
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin
K Dahan, O Devuyst, M Smaers, D Vertommen, G Loute, JM Poux, B Viron, ...
Journal of the American Society of Nephrology 14 (11), 2883-2893, 2003
2492003
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood
S Faguer, S Decramer, N Chassaing, C Bellanné-Chantelot, P Calvas, ...
Kidney international 80 (7), 768-776, 2011
2122011
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ...
The American Journal of Human Genetics 102 (1), 69-87, 2018
1922018
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome
E Riveira-Munoz, Q Chang, N Godefroid, JG Hoenderop, K Dahan, ...
Journal of the American Society of Nephrology 18 (4), 1271-1283, 2007
1882007
Improving mutation screening in familial hematuric nephropathies through next generation sequencing
V Morinière, K Dahan, P Hilbert, M Lison, S Lebbah, A Topa, ...
Journal of the American Society of Nephrology 25 (12), 2740-2751, 2014
1812014
Evidence of digenic inheritance in Alport syndrome
MA Mencarelli, L Heidet, H Storey, M van Geel, B Knebelmann, C Fallerini, ...
Journal of medical genetics 52 (3), 163-174, 2015
1732015
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations
G Bollée, K Dahan, M Flamant, V Moriniere, A Pawtowski, L Heidet, ...
Clinical Journal of the American Society of Nephrology 6 (10), 2429-2438, 2011
1502011
Mutations in SACS cause atypical and late-onset forms of ARSACS
J Baets, T Deconinck, K Smets, D Goossens, P Van den Bergh, K Dahan, ...
Neurology 75 (13), 1181-1188, 2010
1472010
Tamm–Horsfall protein or uromodulin: new ideas about an old molecule
O Devuyst, K Dahan, Y Pirson
Nephrology dialysis transplantation 20 (7), 1290-1294, 2005
1452005
A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis
P Raynaud, J Tate, C Callens, S Cordi, P Vandersmissen, R Carpentier, ...
Hepatology 53 (6), 1959-1966, 2011
1202011
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?
K Dahan, A Fuchshuber, S Adamis, M Smaers, S Kroiss, G Loute, ...
Journal of the American Society of Nephrology 12 (11), 2348-2357, 2001
1182001
Deletions of both α5 (IV) and α6 (IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours
L Heidet, K Dahan, J Zhou, Z Xu, P Cochat, JDM Gould, KA Leppig, ...
Human molecular genetics 4 (1), 99-108, 1995
1141995
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine 21 (6), 1295-1307, 2019
1122019
NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum
K Bouchireb, O Boyer, O Gribouval, F Nevo, E Huynh‐Cong, V Morinière, ...
Human mutation 35 (2), 178-186, 2014
1022014
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