137 related articles for article (PubMed ID: 11558899)
1. Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.
Mizoguchi M; Tamura T; Yamaki A; Higashihara E; Shimizu Y
J Hum Genet; 2001; 46(9):511-7. PubMed ID: 11558899
[TBL] [Abstract][Full Text] [Related]
2. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
Peral B; Gamble V; Strong C; Ong AC; Sloane-Stanley J; Zerres K; Winearls CG; Harris PC
Am J Hum Genet; 1997 Jun; 60(6):1399-410. PubMed ID: 9199561
[TBL] [Abstract][Full Text] [Related]
3. Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
Thongnoppakhun W; Limwongse C; Vareesangthip K; Sirinavin C; Bunditworapoom D; Rungroj N; Yenchitsomanus PT
BMC Med Genet; 2004 Feb; 5():2. PubMed ID: 15018634
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Inoue S; Inoue K; Utsunomiya M; Nozaki J; Yamada Y; Iwasa T; Mori E; Yoshinaga T; Koizumi A
Hum Mutat; 2002 Jun; 19(6):622-8. PubMed ID: 12007219
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
Tsuchiya K; Komeda M; Takahashi M; Yamashita N; Cigira M; Suzuki T; Suzuki K; Nihei H; Mochizuki T
Mutat Res; 2001 Dec; 458(3-4):77-84. PubMed ID: 11691639
[TBL] [Abstract][Full Text] [Related]
7. [Mutation detection of ADPKD PKD1 gene in Hans by denaturing high-performance liquid chromatography].
Zhang SZ; Zhang YH; Zhang DY; Mei CL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):283-8. PubMed ID: 16767665
[TBL] [Abstract][Full Text] [Related]
8. Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
Peral B; San Millán JL; Ong AC; Gamble V; Ward CJ; Strong C; Harris PC
Am J Hum Genet; 1996 Jan; 58(1):86-96. PubMed ID: 8554072
[TBL] [Abstract][Full Text] [Related]
9. Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
Phakdeekitcharoen B; Watnick TJ; Ahn C; Whang DY; Burkhart B; Germino GG
Kidney Int; 2000 Oct; 58(4):1400-12. PubMed ID: 11012875
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. Molecular defect of PKD1 gene resulting in abnormal RNA processing in a Thai family.
Rungroj N; Thongnoppakhun W; Vareesangthip K; Sirinavin C; Wilairat P; Yenchitsomanus PT
J Med Assoc Thai; 2001 Sep; 84(9):1308-16. PubMed ID: 11800305
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
Ding L; Zhang S; Qiu W; Xiao C; Wu S; Zhang G; Cheng L; Zhang S
Nephrol Dial Transplant; 2002 Jan; 17(1):75-80. PubMed ID: 11773467
[TBL] [Abstract][Full Text] [Related]
14. A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
Thongnoppakhun A; Rungroj N; Wilairat P; Vareesangthip K; Sirinavin C; Yenchitsomanus PT
Hum Mutat; 2000 Jan; 15(1):115. PubMed ID: 10612835
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S; Strmecki L; Gamble V; Burton S; Sneddon V; Peral B; Roy S; Bakkaloglu A; Komel R; Winearls CG; Harris PC
Am J Hum Genet; 2001 Jan; 68(1):46-63. PubMed ID: 11115377
[TBL] [Abstract][Full Text] [Related]
16. Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
Afzal AR; Hand M; Ternes-Pereira E; Saggar-Malik A; Taylor R; Jeffery S
Hum Genet; 1999 Dec; 105(6):648-53. PubMed ID: 10647901
[TBL] [Abstract][Full Text] [Related]
17. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393
[TBL] [Abstract][Full Text] [Related]
18. [Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases].
Li L; Li LY; Zhong CG; Gao BD; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Dec; 24(6):666-9. PubMed ID: 18067079
[TBL] [Abstract][Full Text] [Related]
19. Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.
Hafizi A; Khatami SR; Galehdari H; Shariati G; Saberi AH; Hamid M
Iran Biomed J; 2014 Jul; 18(3):143-50. PubMed ID: 24842140
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
