Results 131 to 140 of about 1,877 (178)

Genetic Testing in the Management of Adult CKD. [PDF]

J Am Soc Nephrol
Chebib FT, Wang X, Udani SM, Westemeyer M, Clark D, Zhang Z, Bloom MS, Milo Rasouly H, Kolupaeva V, Mizani MR, Dossabhoy NR, Faravardeh A, Demko ZP, Kotte S, Punj S, Chapman SL, Rabinowitz M, Schneider R, Tabriziani H, Bhorade S, Gharavi AG, Dahl NK.   +21 more
europepmc   +1 more source

IL1β is induced in nephronophthisis but does not mediate kidney damage. [PDF]

Genes Dis
Ferri G, El Hamdaoui M, Martin J, Kuehn EW, Bienaimé F, Saunier S, Viau A.   +6 more
europepmc   +1 more source

Clinical Application of Genetic Testing in Nephrology. [PDF]

Indian J Nephrol
Jeemon G, Jayram JK, Ganesh K, Kumar JS, Simon S, Abraham MA.   +5 more
europepmc   +1 more source

Identification of a novel SALL4 variant associated with unilateral renal agenesis and right renal pelvis duplication by prenatal exome sequencing: a case report. [PDF]

Front Pediatr
Zhao T, Liu J.
europepmc   +1 more source

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults. [PDF]

Front Pediatr
Hoskins BJ, Pramparo T, Gough E, Ponte A, Dutta R, Karnsakul W.   +5 more
europepmc   +1 more source

Ten tips for ordering, interpreting, and communicating genetic test results in nephrology. [PDF]

Clin Kidney J
Selvathesan N, Costigan CS, Bahadori A, Lemaire M.   +3 more
europepmc   +1 more source

Prenatal diagnosis of familial 266-kb 2q13 microquadruplication encompassing MALL and NPHP1 in a pregnancy associated with asymptomatic carrier parent

Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen
doaj   +1 more source

A review of congenital anomalies of the kidney and urinary tract (CAKUT) in Africa. [PDF]

Ann Med Surg (Lond)
Mazaleni S, Ghazi T, Chuturgoon AA, Bhimma R.   +3 more
europepmc   +1 more source

Chronic Kidney Disease in Children with Suspected Genetic Etiology: Diagnostic Yield and Clinical Implications. [PDF]

J Pers Med
Paripović A, Ilić N, Perić M, Ostojić S, Radivojević D, Nikolić L, Sarajlija A.   +6 more
europepmc   +1 more source

WCN25-2377 Deep phenotyping of a family with NPHP1 whole gene deletion using human urinary derived renal epithelial cells

Kidney International Reports
Praveen Dhondurao Sudhindar, Marco Trevian-Herraz, John Sayer   +2 more
doaj   +1 more source