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Results: 1 to 20 of 204

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
[PubMed - indexed for MEDLINE]
Free Article
2.

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Málaga S, Navarro M, El-Youssef M, Torres VE, Harris PC.

Kidney Int. 2003 Aug;64(2):391-403.

PMID:
12846734
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
16199545
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
12506140
[PubMed - indexed for MEDLINE]
Free Article
8.

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.

PMID:
16523049
[PubMed - indexed for MEDLINE]
9.

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Turkbey BI, Bryant J, Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA.

Mol Genet Metab. 2011 Dec;104(4):677-81. doi: 10.1016/j.ymgme.2011.09.001. Epub 2011 Sep 8.

PMID:
21945273
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

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.

Gastroenterology. 2013 Jan;144(1):112-121.e2. doi: 10.1053/j.gastro.2012.09.056. Epub 2012 Oct 3.

PMID:
23041322
[PubMed - indexed for MEDLINE]
11.

Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease.

Williams SS, Cobo-Stark P, James LR, Somlo S, Igarashi P.

Pediatr Nephrol. 2008 May;23(5):733-41. doi: 10.1007/s00467-007-0735-4. Epub 2008 Feb 20.

PMID:
18286309
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
15698423
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
19914852
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Cystogenesis in ARPKD results from increased apoptosis in collecting duct epithelial cells of Pkhd1 mutant kidneys.

Hu B, He X, Li A, Qiu Q, Li C, Liang D, Zhao P, Ma J, Coffey RJ, Zhan Q, Wu G.

Exp Cell Res. 2011 Jan 15;317(2):173-87. doi: 10.1016/j.yexcr.2010.09.012. Epub 2010 Sep 25.

PMID:
20875407
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Molecular genetics of autosomal recessive polycystic kidney disease.

Harris PC, Rossetti S.

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

PMID:
14741187
[PubMed - indexed for MEDLINE]

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