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Items: 1 to 20 of 214

1.

Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.

Zhang D, Lu L, Yang HB, Li M, Sun H, Zeng ZP, Li XP, Xia WB, Xing XP.

Chin Med J (Engl). 2012 Jul;125(14):2482-6.

PMID:
22882926
2.

A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.

Xu Y, Xiao B, Jiang WT, Wang L, Gen HQ, Chen YW, Sun Y, Ji X.

Gene. 2014 Nov 1;551(1):33-8. doi: 10.1016/j.gene.2014.08.032. Epub 2014 Aug 19.

PMID:
25153916
3.

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJ.

Hum Genet. 2005 Nov;118(2):185-206. Epub 2005 Nov 15.

PMID:
16133180
4.

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Küpper F, Schmitt CP, Vester U, Neuhaus TJ, Senderek J, Zerres K.

J Med Genet. 2005 Oct;42(10):e63.

5.

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K.

Hum Mutat. 2004 May;23(5):487-95.

PMID:
15108281
6.

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K.

Hum Mutat. 2005 Mar;25(3):225-31. Review.

PMID:
15706593
7.

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.

BMC Med Genet. 2015 Dec 22;16:116. doi: 10.1186/s12881-015-0261-3.

8.

Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.

Nabhan MM, Abdelaziz H, Xu Y, El Sayed R, Santibanez-Koref M, Soliman NA, Sayer JA.

Genet Mol Res. 2015 Apr 17;14(2):3618-24. doi: 10.4238/2015.April.17.11.

9.

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K.

J Am Soc Nephrol. 2003 Jan;14(1):76-89.

10.

[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].

Xiang Y, Li H, Xu C, Dong X, Xu X, Chen C, Tang S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):662-5. doi: 10.3760/cma.j.issn.1003-9406.2016.05.018. Chinese.

PMID:
27577217
11.

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.

Miyazaki J, Ito M, Nishizawa H, Kato T, Minami Y, Inagaki H, Ohye T, Miyata M, Boda H, Kiriyama Y, Kuroda M, Sekiya T, Kurahashi H, Fujii T.

BMC Med Genet. 2015 Oct 26;16:98. doi: 10.1186/s12881-015-0245-3.

12.

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

Courcet JB, Minello A, Prieur F, Morisse L, Phelip JM, Beurdeley A, Meynard D, Massenet D, Lacassin F, Duffourd Y, Gigot N, St-Onge J, Hillon P, Vanlemmens C, Mousson C, Cerceuil JP, Guiu B, Thevenon J, Thauvin-Robinet C, Jacquemin E, Rivière JB, Michel-Calemard L, Faivre L.

Am J Med Genet A. 2015 Dec;167A(12):3046-53. doi: 10.1002/ajmg.a.37352. Epub 2015 Sep 8.

PMID:
26385851
13.

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres K.

Hum Mutat. 2004 May;23(5):453-63. Review.

PMID:
15108277
14.

A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.

Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, Liang D, Tham K, Xu X, Chen XZ, Pei Y, Zhao ZJ, Wu G.

Genomics. 2002 Jul;80(1):96-104.

PMID:
12079288
15.

Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.

Zhou XH, Hui ZY, Li Y.

World J Pediatr. 2013 Feb;9(1):76-9. doi: 10.1007/s12519-013-0407-3. Epub 2013 Feb 7.

PMID:
23389334
16.

PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease.

Yang J, Zhang S, Zhou Q, Guo H, Zhang K, Zheng R, Xiao C.

J Biochem Mol Biol. 2007 Jul 31;40(4):467-74.

PMID:
17669261
17.

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC.

Medicine (Baltimore). 2006 Jan;85(1):1-21.

18.

Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.

Jang DG, Chae H, Shin JC, Park IY, Kim M, Kim Y.

J Obstet Gynaecol Res. 2011 Nov;37(11):1744-7. doi: 10.1111/j.1447-0756.2011.01594.x. Epub 2011 Jul 25.

PMID:
21790888
19.

Molecular genetics of autosomal recessive polycystic kidney disease.

Harris PC, Rossetti S.

Mol Genet Metab. 2004 Feb;81(2):75-85. Review.

PMID:
14741187
20.

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

Krall P, Pineda C, Ruiz P, Ejarque L, Vendrell T, Camacho JA, Mendizábal S, Oliver A, Ballarín J, Torra R, Ars E.

Pediatr Nephrol. 2014 Feb;29(2):223-34. doi: 10.1007/s00467-013-2657-7. Epub 2013 Oct 27.

PMID:
24162162

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