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For: 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. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab. 2010;99:160-173. [PMID: 19914852 DOI: 10.1016/j.ymgme.2009.10.010] [Cited by in Crossref: 59] [Cited by in F6Publishing: 52] [Article Influence: 4.5] [Reference Citation Analysis]
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13 Jung J, Seo GH, Kim YM, Han YM, Park JK, Kim GH, Lee JH, Park YS, Lee BS, Kim EA, Lee PR, Lee BH. Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations. Medicine (Baltimore) 2020;99:e20113. [PMID: 32384486 DOI: 10.1097/MD.0000000000020113] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
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15 Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol 2010;5:972-84. [PMID: 20413436 DOI: 10.2215/CJN.07141009] [Cited by in Crossref: 75] [Cited by in F6Publishing: 33] [Article Influence: 6.3] [Reference Citation Analysis]
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17 Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology 2013;144:112-121.e2. [PMID: 23041322 DOI: 10.1053/j.gastro.2012.09.056] [Cited by in Crossref: 106] [Cited by in F6Publishing: 81] [Article Influence: 10.6] [Reference Citation Analysis]
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19 Bergmann C. Recent advances in the molecular diagnosis of polycystic kidney disease. Expert Rev Mol Diagn 2017;17:1037-54. [PMID: 28952822 DOI: 10.1080/14737159.2017.1386099] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
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24 Zeybek C, Bolat A, Alpman BN. A rare cause of childhood hypertension detected in a school screening program: Answers. Pediatr Nephrol 2021;36:2087-9. [PMID: 33492459 DOI: 10.1007/s00467-021-04941-z] [Reference Citation Analysis]
25 Luis-yanes MI, Martínez Gómez G, Tapia-romero C, Tejera-carreño P, García-nieto VM. Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient. Nefrología (English Edition) 2020;40:672-3. [DOI: 10.1016/j.nefroe.2020.11.009] [Reference Citation Analysis]
26 Sathyan S, Pournami F, Madhavilatha GK, Tuteja A, Nandakumar A, Prabhakar J, Jain N. Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease. Journal of Child Science 2021;11:e70-3. [DOI: 10.1055/s-0041-1725175] [Reference Citation Analysis]
27 Leal-Gutiérrez JD, Elzo MA, Johnson DD, Hamblen H, Mateescu RG. Genome wide association and gene enrichment analysis reveal membrane anchoring and structural proteins associated with meat quality in beef. BMC Genomics 2019;20:151. [PMID: 30791866 DOI: 10.1186/s12864-019-5518-3] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
28 Bertino G, Ardiri A, Demma S, GiuseppeCalvagno S, Toro A, Basile E, Campagna D, Ferraro G, Frazzetto E, Proiti M. Rare benign tumors of the liver: still rare? J Gastrointest Cancer. 2014;45:202-217. [PMID: 24510731 DOI: 10.1007/s12029-014-9580-4] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
29 Wang J, Qi D, Yang J, Zhang D, Wang Q, Ju X, Zhong X. Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family. Mol Med Rep 2019;20:5059-63. [PMID: 31638247 DOI: 10.3892/mmr.2019.10738] [Reference Citation Analysis]
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32 Gunay-Aygun M, Turkbey BI, Bryant J, Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA. Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Mol Genet Metab 2011;104:677-81. [PMID: 21945273 DOI: 10.1016/j.ymgme.2011.09.001] [Cited by in Crossref: 34] [Cited by in F6Publishing: 27] [Article Influence: 3.1] [Reference Citation Analysis]
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36 Ars E, Torra R. Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics. Clin Kidney J 2017;10:586-93. [PMID: 28980669 DOI: 10.1093/ckj/sfx051] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.2] [Reference Citation Analysis]
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