Results 111 to 120 of about 3,398 (180)

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

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

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

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

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

Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report. [PDF]

Genes (Basel)
Turczyn A, Krzemień G, Nguyen D.
europepmc   +1 more source

Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses. [PDF]

Sci Rep
Huang M, Pianta T, Barit D, Mahmood K, Colville D, Mack H, Savige J.   +6 more
europepmc   +1 more source

Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study. [PDF]

iScience
Suseelan V, Krishna A A, Zawar A, Prabhu PS, Bhatta P, Paliwal A, Mathur P, Medicherla KM, Polipalli SK, Suravajhala P.   +9 more
europepmc   +1 more source

Integrating Weighted Gene Co-Expression Network and Differential Expression Analyses to Unveil the Role of RNA m6A Methylation Regulators in Idiopathic Parkinson's Disease in Latin America. [PDF]

Life (Basel)
Leiva F, Constandil L, Chana-Cuevas P, Vidal RL, Morales B, Vidal R.   +5 more
europepmc   +1 more source