Results 251 to 260 of about 628,301 (302)

Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation. [PDF]

Front Med (Lausanne)
Gopireddy NSR, Grover S, Khawaja I, Mudarres MF, Rastogi P, Story M, Thomas CP.   +6 more
europepmc   +1 more source

Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.

JAMA Netw Open
Martinelli E, Ke J, Khan A, Wongboonsin J, Vanderwall DR, Lim TY, Santoriello D, Gupta Y, McNulty MT, Koyama S, Puntambekar S, Bomback AS, Canetta P, Kretzler M, Montini G, Morello W, Maggiore U, Fiaccadori E, Gesualdo L, Ghiggeri GM, Oliveira EA, Simoes E Silva AC, Bendapudi PK, Motelow J, Garcia CK, Paul DS, Petrovski S, Goldstein DB, Friedman DJ, Radhakrishnan J, Lin F, Mohan S, Appel GB, Saleem MA, Natarajan P, Hildebrandt F, Westland R, D'Agati VD, Gbadegesin R, Gharavi AG, Pollak MR, Kiryluk K, Sampson MG, Sanna-Cherchi S, Columbia Genomics Consortium.   +44 more
europepmc   +1 more source

Genetic investigation of kidney disease

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Genetics of kidney disease

American Journal of Kidney Diseases, 2000
Perhaps nothing in the fields of medicine and nephrology is moving more rapidly than genetics. From this movement are opportunities for discovery, new therapy, and better counseling for patients. At a level of basic science, renal medicine has been a consistent contributor to this emerging discipline, but our current approach to training in the methods
A L, George, E G, Neilson
openaire   +2 more sources

Genetics of Chronic Kidney Disease

Nephron Clinical Practice, 2010
The current review collates what is already known of the genetics of chronic kidney disease (CKD), and focuses on new trends in genome-wide assessment of the inherited component of susceptibility to this condition. Early efforts to identify kidney disease susceptibility genetic loci using linkage and candidate gene strategies proved disappointing. More
Conall M, O'Seaghdha, Caroline S, Fox
openaire   +2 more sources

Genetic Testing in Pediatric Kidney Disease

The Indian Journal of Pediatrics, 2020
The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS).
Veronica, Arora, Kanav, Anand, Ishwar, Chander Verma   +2 more
openaire   +2 more sources

Disease modeling in genetic kidney diseases: zebrafish

Cell and Tissue Research, 2017
Growing numbers of translational genomics studies are based on the highly efficient and versatile zebrafish (Danio rerio) vertebrate model. The increasing types of zebrafish models have improved our understanding of inherited kidney diseases, since they not only display pathophysiological changes but also give us the opportunity to develop and test ...
Heiko, Schenk, Janina, Müller-Deile, Mark, Kinast, Mario, Schiffer   +3 more
openaire   +2 more sources