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Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
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Kidney Int. 2010 Feb;77(4):350-8. doi: 10.1038/ki.2009.440. Epub 2009 Nov 25.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
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Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30.
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA.
Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20.
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie).
Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x.
Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.
Cordido A, Vizoso-Gonzalez M, Garcia-Gonzalez MA.
Int J Mol Sci. 2021 Jun 17;22(12):6523. doi: 10.3390/ijms22126523.
The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Goggolidou P, Richards T.
Biochim Biophys Acta Mol Basis Dis. 2022 Apr 1;1868(4):166348. doi: 10.1016/j.bbadis.2022.166348. Epub 2022 Jan 12.
Early clinical management of autosomal recessive polycystic kidney disease.
Liebau MC.
Pediatr Nephrol. 2021 Nov;36(11):3561-3570. doi: 10.1007/s00467-021-04970-8. Epub 2021 Feb 17.
Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease.
Benz EG, Hartung EA.
Pediatr Nephrol. 2021 Sep;36(9):2639-2658. doi: 10.1007/s00467-020-04869-w. Epub 2021 Jan 21.
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?
Chandar J, Garcia J, Jorge L, Tekin A.
Pediatr Nephrol. 2015 Aug;30(8):1233-42. doi: 10.1007/s00467-014-2887-3. Epub 2014 Aug 13.
