Results 141 to 150 of about 656,619 (173)

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

Pegcetacoplan-induced remission in pediatric immune-complex membranoproliferative glomerulonephritis with comorbid autosomal recessive polycystic kidney disease: a case report. [PDF]

Front Med (Lausanne)
Alrasheed R, Alanazi A, Bukhari R, Albatati S, Faqeehi H, Alzabali S.   +5 more
europepmc   +1 more source

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants. [PDF]

Mol Cell Pediatr
Elaraby NM, Metwally AM, Sayed SM, Ashaat NA, Gamal M, Hussen DF, Abuelela S, Ramadan A, Kobesiy MM, Shaker MM, Elgebaly H, Elnady HG, Gammal ME, Ashaat EA.   +13 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Chronic renal disease in children with Autosomal Recessive Polycystic Kidney Disease

Giornale di Clinica Nefrologia e Dialisi
Laura Massella
doaj   +1 more source

Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study. [PDF]

Medicina (Kaunas)
Kim S, Yoon JH, Jung YJ, Kwon H, Lee J, Kwon JY, Kim YH.   +6 more
europepmc   +1 more source

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

Hum Genomics
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS.   +32 more
europepmc   +1 more source

Endocannabinoid System-Related Inflammation and Progression of Autosomal Dominant Polycystic Kidney Disease. [PDF]

Int J Mol Sci
Simankowicz P, Dołęgowska B, Marchelek-Myśliwiec M, Dołęgowska K, Różański J, Stępniewska J.   +5 more
europepmc   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease. [PDF]

Adv Sci (Weinh)
Huang Z, Liu YY, Sun H, Liu P.
europepmc   +1 more source

Results of Multigene Panel Testing, Including <i>PKD1</i>, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis. [PDF]

Kidney Med
Tapper EE, Huusko JM, Scocchia AM, Gall K, Roberts MB, Bernal-Quirós M, Valo S, Saarinen I, Rantanen M, Pietila T, Gentile M, Koskinen L, Kumar MM, Myllykangas S, Koskenvuo J.   +14 more
europepmc   +1 more source