Observations of a large Dent disease cohort.
Blanchard, Anne; Curis, Emmanuel; Guyon-Roger, Tiphaine; Kahila, Diana; Treard, Cyrielle; Baudouin, Véronique; Bérard, Etienne; Champion, Gérard; Cochat, Pierre; Dubourg, Julie; de la Faille, Renaud; Devuyst, Olivier; Deschenes, Georges; Fischbach, Michel; Harambat, Jérôme; Houillier, Pascal; Karras, Alexandre; Knebelmann, Bertrand; Lavocat, Marie-Pierre; Loirat, Chantal; Merieau, Elodie; Niaudet, Patrick; Nobili, François; Novo, Robert; Salomon, Rémi; Ulinski, Tim; Jeunemaître, Xavier; Vargas-Poussou, Rosa.
; 90(2): 430-439, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27342959
Phenotypic variability of Dent disease in a large New Zealand kindred.
Identification of a novel mutation in the CLCN5 gene in a Chinese family with Dent-1 disease.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.
Familial hematuria: A review.
The cellular and physiological functions of the Lowe syndrome protein OCRL1.
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria.
Muscle involvement in Dent disease 2.
Genetic causes of hypercalciuric nephrolithiasis.