469 related articles for article (PubMed ID: 16133180)
1. 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. PubMed ID: 16133180
[TBL] [Abstract][Full Text] [Related]
2. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M; Tuchman M; Font-Montgomery E; Lukose L; Edwards H; Garcia A; Ausavarat S; Ziegler SG; Piwnica-Worms K; Bryant J; Bernardini I; Fischer R; Huizing M; Guay-Woodford L; Gahl WA
Mol Genet Metab; 2010 Feb; 99(2):160-73. PubMed ID: 19914852
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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. PubMed ID: 27225849
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.
Al Alawi I; Molinari E; Al Salmi I; Al Rahbi F; Al Mawali A; Sayer JA
BMC Nephrol; 2020 Aug; 21(1):347. PubMed ID: 32799815
[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. 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]
11. 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]
12. Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.
Qiu LR; Xu RR; Tang JH; Zhou JH
Curr Med Sci; 2020 Oct; 40(5):835-844. PubMed ID: 33123899
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
Adeva M; El-Youssef M; Rossetti S; Kamath PS; Kubly V; Consugar MB; Milliner DM; King BF; Torres VE; Harris PC
Medicine (Baltimore); 2006 Jan; 85(1):1-21. PubMed ID: 16523049
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Pkhd1
Yang C; Harafuji N; Caldovic L; Yu W; Boddu R; Bhattacharya S; Barseghyan H; Gordish-Dressman H; Foreman O; Bebok Z; Eicher EM; Guay-Woodford LM
J Mol Med (Berl); 2023 Sep; 101(9):1141-1151. PubMed ID: 37584738
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Transcriptional complexity in autosomal recessive polycystic kidney disease.
Frank V; Zerres K; Bergmann C
Clin J Am Soc Nephrol; 2014 Oct; 9(10):1729-36. PubMed ID: 25104275
[TBL] [Abstract][Full Text] [Related]
20. [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. PubMed ID: 24330989
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
