456 related articles for article (PubMed ID: 15805161)
1. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM; Messiaen LM; Page G; Antignac C; Gubler MC; Onuchic LF; Somlo S; Germino GG; Guay-Woodford LM
J Med Genet; 2005 Apr; 42(4):336-49. PubMed ID: 15805161
[No Abstract] [Full Text] [Related]
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; 16():116. PubMed ID: 26695994
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15108281
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 12846734
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15706593
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 12506140
[TBL] [Abstract][Full Text] [Related]
7. Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
Ebner K; Dafinger C; Ortiz-Bruechle N; Koerber F; Schermer B; Benzing T; Dötsch J; Zerres K; Weber LT; Beck BB; Liebau MC
Pediatr Nephrol; 2017 Jul; 32(7):1269-1273. PubMed ID: 28364132
[TBL] [Abstract][Full Text] [Related]
8. [PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].
Hamo S; Bacchetta J; Bertholet-Thomas A; Ranchin B; Cochat P; Michel-Calemard L
Nephrol Ther; 2018 Nov; 14(6):474-477. PubMed ID: 29703621
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 15108277
[TBL] [Abstract][Full Text] [Related]
10. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó T; Orosz P; Balogh E; Jávorszky E; Máttyus I; Bereczki C; Maróti Z; Kalmár T; Szabó AJ; Reusz G; Várkonyi I; Marián E; Gombos É; Orosz O; Madar L; Balla G; Kappelmayer J; Tory K; Balogh I
Pediatr Nephrol; 2018 Oct; 33(10):1713-1721. PubMed ID: 29956005
[TBL] [Abstract][Full Text] [Related]
11. Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.
Wang J; Qi D; Yang J; Zhang D; Wang Q; Ju X; Zhong X
Mol Med Rep; 2019 Dec; 20(6):5059-5063. PubMed ID: 31638247
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 24162162
[TBL] [Abstract][Full Text] [Related]
13. 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; 551(1):33-8. PubMed ID: 25153916
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
Xiang Y; Li H; Xu C; Dong X; Xu X; Chen C; Tang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):662-5. PubMed ID: 27577217
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21790888
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 20575693
[TBL] [Abstract][Full Text] [Related]
17. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.
Chen J; Ma N; Zhao X; Li W; Zhang Q; Yuan S; Tan YQ; Lu G; Lin G; Du J
J Hum Genet; 2019 Mar; 64(3):207-214. PubMed ID: 30617278
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 16199545
[TBL] [Abstract][Full Text] [Related]
19. 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;
Kidney Int; 2005 Mar; 67(3):829-48. PubMed ID: 15698423
[TBL] [Abstract][Full Text] [Related]
20. Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
Nabhan MM; Abdelaziz H; Xu Y; El Sayed R; Santibanez-Koref M; Soliman NA; Sayer JA
Genet Mol Res; 2015 Apr; 14(2):3618-24. PubMed ID: 25966130
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
