Results 121 to 130 of about 2,524,364 (180)

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review. [PDF]

Glob Med Genet
Ciantar N, Said E.
europepmc   +1 more source

Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease. [PDF]

J Dev Biol
DeLoriea J, Casey C, Shearer L, Chen V, Bryant A, Gamberi C.   +5 more
europepmc   +1 more source

Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems. [PDF]

Pediatr Nephrol
Gulati A, Caldovic L, Guay-Woodford LM.
europepmc   +1 more source

Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD. [PDF]

BMC Nephrol
Lee DH, Park J, Kim HH, Kim JK.
europepmc   +1 more source

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader <i>PKHD1</i>-Associated Disease Spectrum. [PDF]

Genes (Basel)
Lapunzina-Soler P, Shabaka A, Peces R, Alonso Á, Cuesta E, Mena R, Espinosa-Román L, Melgosa M, Fernández G, Muñoz-GᵃPorrero Y, Tenorio-Castaño J, Lapunzina P, Nevado J.   +12 more
europepmc   +1 more source

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study. [PDF]

Clin J Am Soc Nephrol
Bozkurt EG, Sheikh Najeeb M, Yang H, Kemppainen JL, Smith BH, Gregory AV, Baker TA, Thompson WS, Khalifa M, Cruz C, Kouri AM, Tran CL, Sas DJ, Cramer CH, Dahl NK, Kline TL, Torres VE, Chebib FT, Harris PC, Hanna C.   +19 more
europepmc   +1 more source

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Altay D, Yel S, Dursun İ, Arslan D.
europepmc   +1 more source

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   +1 more source

Gene Allen Oral History (part 1)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

Assessing the potential of DZIP1L gene in autosomal recessive polycystic kidney disease gene therapy

Pediatric Discovery
Fahreddin Palaz
doaj   +1 more source