121 related articles for article (PubMed ID: 11691639)
21. Novel mutations in the duplicated region of PKD1 gene.
Perrichot R; Mercier B; Quere I; Carre A; Simon P; Whebe B; Cledes J; Ferec C
Eur J Hum Genet; 2000 May; 8(5):353-9. PubMed ID: 10854095
[TBL] [Abstract][Full Text] [Related]
22. Modification of PCR conditions and design of exon-specific primers for the efficient molecular diagnosis of PKD1 mutations.
Liu W; Chen M; Wei J; He W; Li Z; Sun X; Shi Y
Kidney Blood Press Res; 2014; 39(6):536-45. PubMed ID: 25531466
[TBL] [Abstract][Full Text] [Related]
23. [Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
Torra R; Badenas C; Pérez-Oller L; San Millán JL; Tellería D; Estivill X; Darnell A
Nefrologia; 2000; 20(1):39-46. PubMed ID: 10822721
[TBL] [Abstract][Full Text] [Related]
24. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
Vouk K; Strmecki L; Stekrova J; Reiterova J; Bidovec M; Hudler P; Kenig A; Jereb S; Zupanic-Pajnic I; Balazic J; Haarpaintner G; Leskovar B; Adamlje A; Skoflic A; Dovc R; Hojs R; Komel R
BMC Med Genet; 2006 Jan; 7():6. PubMed ID: 16430766
[TBL] [Abstract][Full Text] [Related]
25. Genotypes of autosomal dominant polycystic kidney disease in Japanese.
Mizoguchi M; Tamura T; Yamaki A; Higashihara E; Shimizu Y
J Hum Genet; 2002; 47(1):51-4. PubMed ID: 11829141
[TBL] [Abstract][Full Text] [Related]
26. Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
Watnick T; Phakdeekitcharoen B; Johnson A; Gandolph M; Wang M; Briefel G; Klinger KW; Kimberling W; Gabow P; Germino GG
Am J Hum Genet; 1999 Dec; 65(6):1561-71. PubMed ID: 10577909
[TBL] [Abstract][Full Text] [Related]
27. Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease.
Liu J; Li L; Liu Q
Int J Clin Exp Pathol; 2015; 8(10):13289-92. PubMed ID: 26722532
[TBL] [Abstract][Full Text] [Related]
28. A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1).
Bresin E; Rossetti S; Englisch S; Corrà S; Pignatti PF; Turco AE
Mol Cell Probes; 1996 Dec; 10(6):463-5. PubMed ID: 9025084
[TBL] [Abstract][Full Text] [Related]
29. Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
Thomas R; McConnell R; Whittacker J; Kirkpatrick P; Bradley J; Sandford R
Am J Hum Genet; 1999 Jul; 65(1):39-49. PubMed ID: 10364515
[TBL] [Abstract][Full Text] [Related]
30. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan YC; Blumenfeld JD; Anghel R; Donahue S; Belenkaya R; Balina M; Parker T; Levine D; Leonard DG; Rennert H
Hum Mutat; 2009 Feb; 30(2):264-73. PubMed ID: 18837007
[TBL] [Abstract][Full Text] [Related]
31. Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.
Khadangi F; Torkamanzehi A; Kerachian MA
BMC Nephrol; 2020 Sep; 21(1):408. PubMed ID: 32957937
[TBL] [Abstract][Full Text] [Related]
32. Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.
Ranjzad F; Aghdami N; Tara A; Mohseni M; Moghadasali R; Basiri A
Kidney Blood Press Res; 2018; 43(2):471-478. PubMed ID: 29590654
[TBL] [Abstract][Full Text] [Related]
33. Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
Torra R; Viribay M; Tellería D; Badenas C; Watson M; Harris P; Darnell A; San Millán JL
Kidney Int; 1999 Jul; 56(1):28-33. PubMed ID: 10411676
[TBL] [Abstract][Full Text] [Related]
34. An efficient linkage analysis strategy for autosomal dominant polycystic kidney disease.
Onoe T; Konoshita T; Miyagi K; Yamada K; Mutoh H; Koni I; Nomura H
Clin Nephrol; 2003 Jun; 59(6):406-14. PubMed ID: 12834171
[TBL] [Abstract][Full Text] [Related]
35. Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.
Neophytou P; Constantinides R; Lazarou A; Pierides A; Deltas CC
Hum Genet; 1996 Oct; 98(4):437-42. PubMed ID: 8792818
[TBL] [Abstract][Full Text] [Related]
36. Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P; Lumiaho A; Miettinen R; Pihlajamäki J; Sandford R; Laakso M
J Mol Med (Berl); 2005 Aug; 83(8):638-46. PubMed ID: 15772804
[TBL] [Abstract][Full Text] [Related]
37. Mutation detection in the repeated part of the PKD1 gene.
Roelfsema JH; Spruit L; Saris JJ; Chang P; Pirson Y; van Ommen GJ; Peters DJ; Breuning MH
Am J Hum Genet; 1997 Nov; 61(5):1044-52. PubMed ID: 9345095
[TBL] [Abstract][Full Text] [Related]
38. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Watnick TJ; Piontek KB; Cordal TM; Weber H; Gandolph MA; Qian F; Lens XM; Neumann HP; Germino GG
Hum Mol Genet; 1997 Sep; 6(9):1473-81. PubMed ID: 9285784
[TBL] [Abstract][Full Text] [Related]
39. Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.
Mochizuki T; Teraoka A; Akagawa H; Makabe S; Akihisa T; Sato M; Kataoka H; Mitobe M; Furukawa T; Tsuchiya K; Nitta K
Clin Exp Nephrol; 2019 Aug; 23(8):1022-1030. PubMed ID: 30989420
[TBL] [Abstract][Full Text] [Related]
40. Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.
Rossetti S; Bresin E; Restagno G; Carbonara A; Corrà S; De Prisco O; Pignatti PF; Turco AE
Am J Med Genet; 1996 Oct; 65(2):155-9. PubMed ID: 8911610
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]