Results 161 to 170 of about 3,318 (192)

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered. We aimed to analyze the clinical features of genetically diagnosed ARPKD in the Japanese population.
openaire  

Gene therapy in polycystic kidney disease: A promising future. [PDF]

J Transl Int Med
Xue C, Lv J, Yang B, Mei S, Xu J, Li X, Zhang L, Mao Z.   +7 more
europepmc   +1 more source

Reversal of elevatedGli3in Autosomal Recessive Polycystic Kidney Disease does not alter cystogenesis

Russell LG, Kolatsi-Joannou M, Wilson L, Chandler JC, Tejedor NP, Stagg G, Price KL, Rowan CJ, Crompton T, Rosenblum ND, Winyard PJ, Long DA.   +11 more
europepmc   +1 more source

Von-Meyenburg Complex: A Case of Elevated Gamma-GT. [PDF]

Cureus
Martins JD, Ferreira M, Teixeira da Silva F.   +2 more
europepmc   +1 more source

Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease. [PDF]

Pediatr Nephrol
Bracciamà V, Vaisitti T, Mioli F, Faini AC, Del Prever GMB, Martins VH, Camilla R, Mattozzi F, Pieretti S, Luca M, Romeo CM, Saglia C, Migliorero M, Arruga F, Carli D, Amoroso A, Lonardi P, Deaglio S, Peruzzi L.   +18 more
europepmc   +1 more source

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout. [PDF]

iScience
Fox JC, Hahnenstein ST, Hassan F, Grund A, Haffner D, Ziegler WH.   +5 more
europepmc   +1 more source

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy? [PDF]

BMC Nephrol
Zhou W, Du Q, Liu Q, Liu X, Li L, Zhang H.   +5 more
europepmc   +1 more source

Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli's syndrome: a case report. [PDF]

Diagn Pathol
Zhou T, Liu K, Wei H, Zhong Q, Luo D, Yang W, Zhang P, Xiao Y.   +7 more
europepmc   +1 more source

Large-Sample Genome-Wide Association Study of Resistance to Retained Placenta in U.S. Holstein Cows. [PDF]

Int J Mol Sci
Prakapenka D, Liang Z, Zaabza HB, VanRaden PM, Van Tassell CP, Da Y.   +5 more
europepmc   +1 more source

[Autosomal recessive polycystic kidney disease in a girl]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Xu XY, Zhou QM, Tian YF, Zhao Q, Pan H, Chen QT, Luo YM, Guo ZZ, Li TH, Yang JH.   +9 more
europepmc   +1 more source