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Items: 1 to 20 of 24

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.

2.

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
3.

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
4.

Molecular genetics of autosomal recessive polycystic kidney disease.

Harris PC, Rossetti S.

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

PMID:
14741187
5.

Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).

Al-Bhalal L, Akhtar M.

Adv Anat Pathol. 2008 Jan;15(1):54-8. Review.

PMID:
18156813
6.

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.

Menezes LF, Onuchic LF.

Braz J Med Biol Res. 2006 Dec;39(12):1537-48. Review.

7.

[From gene to disease; PKHD1 and recessive polycystic kidney disease].

Peters DJ, Losekoot M, de Die-Smulders CE, Stevens-Baldewijns M, Breuning MH.

Ned Tijdschr Geneeskd. 2005 Feb 26;149(9):463-6. Review. Dutch.

PMID:
15771341
8.

Autosomal recessive polycystic kidney disease. Clinical and genetic profile. (Review and a case report).

Dimitrakov JD, Dimitrakov DI.

Folia Med (Plovdiv). 2003;45(1):5-7. Review.

PMID:
12943060
9.

Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD).

Sweeney WE Jr, Avner ED.

Cell Tissue Res. 2006 Dec;326(3):671-85. Epub 2006 Jun 10. Review.

PMID:
16767405
10.

[Gene analysis and literature review of autosomal recessive polycystic kidney disease].

Zhang JW, Wang C, Wang CY, Qiu ZQ.

Zhonghua Er Ke Za Zhi. 2013 Sep;51(9):684-7. Review. Chinese.

PMID:
24330989
11.

Autosomal recessive and dominant polycystic kidney diseases.

Sessa A, Righetti M, Battini G.

Minerva Urol Nefrol. 2004 Dec;56(4):329-38. Review.

PMID:
15785425
12.

[Polycystic kidney diseases: molecular genetics and counselling].

Lespinasse J, Fourcade J, Schir F.

Nephrol Ther. 2006 Jul;2(3):120-6. Epub 2006 Jun 27. Review. French.

PMID:
16890136
13.

Liver disease in autosomal recessive polycystic kidney disease.

Shneider BL, Magid MS.

Pediatr Transplant. 2005 Oct;9(5):634-9. Review.

PMID:
16176423
14.

Clinical manifestations of autosomal recessive polycystic kidney disease.

Hoyer PF.

Curr Opin Pediatr. 2015 Apr;27(2):186-92. doi: 10.1097/MOP.0000000000000196. Review.

PMID:
25689455
15.
16.

Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1.

Harris PC.

Curr Opin Nephrol Hypertens. 2002 May;11(3):309-14. Review.

PMID:
11981261
17.

Biomedical impact of splicing mutations revealed through exome sequencing.

Taneri B, Asilmaz E, Gaasterland T.

Mol Med. 2012 Mar 30;18:314-9. doi: 10.2119/molmed.2011.00126. Review.

18.

Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.

Hartung EA, Guay-Woodford LM.

Pediatrics. 2014 Sep;134(3):e833-45. doi: 10.1542/peds.2013-3646. Epub 2014 Aug 11. Review.

19.

[Gene diagnosis and clinical characteristics of autosomal recessive polycystic kidney disease].

Liu SP, Ding J.

Zhonghua Er Ke Za Zhi. 2013 Apr;51(4):311-3. Review. Chinese. No abstract available.

PMID:
23927809
20.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M.

Pediatr Neurol. 2014 Dec;51(6):806-813.e8. doi: 10.1016/j.pediatrneurol.2014.08.025. Epub 2014 Sep 4. Review.

PMID:
25456301
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