Results 171 to 180 of about 2,184 (189)

Hypercalciuria in patients with CLCN5 mutations

Pediatric Nephrology, 2006
Michael Ludwig, Boris Utsch, Arend Bokenkamp   +2 more
exaly  

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent’s disease

Journal of Human Genetics, 2007
Elena Ramos-Trujillo, Carlos Flores, Laura Espinosa   +2 more
exaly  

A common molecular basis for three inherited kidney stone diseases

Nature, 1996
Simon H S Pearce, Blanche Schwappach-Pignataro, Alessandra Bolino   +2 more
exaly  

Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the <i>CLCN5</i> gene

Internal Medicine, 2018
Isao Matsui, Takayasu Mori, Masayuki Mizui   +2 more
exaly  

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

Kidney International, 2000
Rajesh V Thakker
exaly  

MALATTIA DI DENT: CARATTERIZZAZIONE MOLECOLARE DELLA REGIONE DEL PROMOTORE DEL GENE CLCN5

2005
TOSETTO, ENRICA, DEL PRETE, DORELLA, D'ANGELO, ANGELA, ANGLANI, FRANCA   +3 more
openaire   +1 more source

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria

Kidney International, 1999
exaly  

ANALISI DI MUTAZIONE DELLA REGIONE 5’ UTR DEL GENE CLCN5 E DEI GENI OCRL1 E COLLECTRINA IN PAZIENTI CON MALATTIA DI DENT CLCN5 NEGATIVI

2007
E. Tosetto, M. Addis, G. Caridi, F. Emma, A. Melis, G. Vezzoli, N. Glorioso, S. Degortes, L. Soldati, A. Terranegra, S. Negrisolo, G. M. Ghiggeri, D'ANGELO, ANGELA, ANGLANI, FRANCA   +13 more
openaire   +1 more source

Expression study of CLCN5 gene in microdissected human kidney biopsies of proteinuric nephropathies.

2008
TIRALONGO, EMILIA, CEOL, MONICA, TOSETTO, ENRICA, MEZZABOTTA, FEDERICA, ANGLANI, FRANCA, F. Antonucci, A. D’Angelo, DEL PRETE, DORELLA   +7 more
openaire   +1 more source

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

Journal of Clinical Investigation, 1997
exaly