228 related articles for article (PubMed ID: 24710345)
1. Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
Hao X; Liu S; Dong Q; Zhang H; Zhao J; Su L
PLoS One; 2014; 9(4):e92661. PubMed ID: 24710345
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Courcet JB; Minello A; Prieur F; Morisse L; Phelip JM; Beurdeley A; Meynard D; Massenet D; Lacassin F; Duffourd Y; Gigot N; St-Onge J; Hillon P; Vanlemmens C; Mousson C; Cerceuil JP; Guiu B; Thevenon J; Thauvin-Robinet C; Jacquemin E; Rivière JB; Michel-Calemard L; Faivre L
Am J Med Genet A; 2015 Dec; 167A(12):3046-53. PubMed ID: 26385851
[TBL] [Abstract][Full Text] [Related]
4. [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
Yang XY; Zhu LP; Liu XQ; Zhang CY; Yao Y; Wu Y
Beijing Da Xue Xue Bao Yi Xue Ban; 2018 Apr; 50(2):335-339. PubMed ID: 29643536
[TBL] [Abstract][Full Text] [Related]
5. Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.
Tang F; Ma D; Wang Y; Qiu Y; Liu F; Wang Q; Lu Q; Shi M; Xu L; Liu M; Liang J
BMC Med Genet; 2017 Mar; 18(1):35. PubMed ID: 28335750
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family.
Yang N; Leng Y; Dai S; Chen C; Liu C; Cao L
Eur J Gastroenterol Hepatol; 2019 Mar; 31(3):363-367. PubMed ID: 30507656
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
Liu S; Zhang S; Li W; Zhang A; Qi F; Zheng G; Yan S; Ma X
Twin Res Hum Genet; 2012 Feb; 15(1):126-32. PubMed ID: 22784463
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 22882926
[TBL] [Abstract][Full Text] [Related]
10. Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
Hong N; Chen YH; Xie C; Xu BS; Huang H; Li X; Yang YQ; Huang YP; Deng JL; Qi M; Gu YS
J Zhejiang Univ Sci B; 2014 Aug; 15(8):727-34. PubMed ID: 25091991
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.
Yao X; Ao W; Fang J; Mao G; Chen C; Yu L; Cai H; Xu C
BMC Pregnancy Childbirth; 2021 Apr; 21(1):294. PubMed ID: 33845788
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.
Liu JS; Fan LL; Zhang H; Liu X; Huang H; Tao LJ; Xia K; Xiang R
Cardiology; 2017; 136(1):10-14. PubMed ID: 27544385
[TBL] [Abstract][Full Text] [Related]
16. Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.
Giacobbe C; Di Dato F; Palma D; Amitrano M; Iorio R; Fortunato G
Mol Genet Genomic Med; 2022 Aug; 10(8):e1998. PubMed ID: 35715958
[TBL] [Abstract][Full Text] [Related]
17. Whole exome sequencing reveals novel
Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
[TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.
Tada H; Kawashiri MA; Nohara A; Saito R; Tanaka Y; Nomura A; Konno T; Sakata K; Fujino N; Takamura T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K
Atherosclerosis; 2015 Jun; 240(2):324-9. PubMed ID: 25875382
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]