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Items: 1 to 20 of 102

1.

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
2.

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.

3.

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
4.

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.

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.

Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.

Zvereff V, Yao S, Ramsey J, Mikhail FM, Vijzelaar R, Messiaen L.

Genet Test Mol Biomarkers. 2010 Aug;14(4):505-10. doi: 10.1089/gtmb.2009.0188.

PMID:
20575693
7.

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.

8.

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

Tong YQ, Liu B, Fu CH, Zheng HY, Gu J, Liu H, Luo HB, Li Y.

J Huazhong Univ Sci Technolog Med Sci. 2016 Oct;36(5):758-766. Epub 2016 Oct 18.

PMID:
27752906
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.

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.

J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26.

PMID:
27225849
11.

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
12.

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.

Consugar MB, Anderson SA, Rossetti S, Pankratz VS, Ward CJ, Torra R, Coto E, El-Youssef M, Kantarci S, Utsch B, Hildebrandt F, Sweeney WE, Avner ED, Torres VE, Cunningham JM, Harris PC.

Am J Kidney Dis. 2005 Jan;45(1):77-87.

PMID:
15696446
13.

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
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
15.

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
16.

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.

17.

Transcriptional complexity in autosomal recessive polycystic kidney disease.

Frank V, Zerres K, Bergmann C.

Clin J Am Soc Nephrol. 2014 Oct 7;9(10):1729-36. doi: 10.2215/CJN.00920114. Epub 2014 Aug 7.

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.

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
20.

An Ashkenazi founder mutation in the PKHD1 gene.

Quint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I.

Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23.

PMID:
26721323

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