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karin dahan
karin dahan
Directeur du Centre de Génétique de l'IPG
Adresse e-mail validée de ipg.be
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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
18132000
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
5472003
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
4022015
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
3372015
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
2552011
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
2152011
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
1932018
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
1212011
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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