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Year | Number of Results |
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2005 | 1 |
2009 | 1 |
2010 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
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Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
Hum Genet. 2005 Nov;118(2):185-206. doi: 10.1007/s00439-005-0027-7. Epub 2005 Nov 15.
Hum Genet. 2005.
PMID: 16133180
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.
Gunay-Aygun M, et al.
Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20.
Mol Genet Metab. 2010.
PMID: 19914852
Free PMC article.
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Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova L, Seeman T, Elisakova V, Reiterova J, Puchmajerova A, Stekrova J.
Obeidova L, et al.
BMC Med Genet. 2015 Dec 22;16:116. doi: 10.1186/s12881-015-0261-3.
BMC Med Genet. 2015.
PMID: 26695994
Free PMC article.
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Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L.
Melchionda S, et al.
J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26.
J Hum Genet. 2016.
PMID: 27225849
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