284 related articles for article (PubMed ID: 25771912)
1. Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
Herbst SM; Schirmer S; Posovszky C; Jochum F; Rödl T; Schroeder JA; Barth TF; Hehr U; Melter M; Vermehren J
Mol Cell Probes; 2015 Oct; 29(5):291-8. PubMed ID: 25771912
[TBL] [Abstract][Full Text] [Related]
2. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
Degtyareva AV; Proshlyakova TY; Gautier MS; Degtyarev DN; Kamenets EA; Baydakova GV; Rebrikov DV; Zakharova EY
BMC Med Genet; 2019 Jul; 20(1):123. PubMed ID: 31296176
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Nicastro E; Di Giorgio A; Marchetti D; Barboni C; Cereda A; Iascone M; D'Antiga L
J Pediatr; 2019 Aug; 211():54-62.e4. PubMed ID: 31160058
[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. A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
Tavira B; Gómez J; Málaga S; Santos F; Fernández-Aracama J; Alonso B; Iglesias S; Benavides A; Hernando I; Plasencia A; Alvarez V; Coto E
Gene; 2015 Apr; 561(1):165-9. PubMed ID: 25701400
[TBL] [Abstract][Full Text] [Related]
6. Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
Chen HL; Li HY; Wu JF; Wu SH; Chen HL; Yang YH; Hsu YH; Liou BY; Chang MH; Ni YH
J Pediatr; 2019 Feb; 205():153-159.e6. PubMed ID: 30366773
[TBL] [Abstract][Full Text] [Related]
7. Analysis of gene mutations in children with cholestasis of undefined etiology.
Matte U; Mourya R; Miethke A; Liu C; Kauffmann G; Moyer K; Zhang K; Bezerra JA
J Pediatr Gastroenterol Nutr; 2010 Oct; 51(4):488-493. PubMed ID: 20683201
[TBL] [Abstract][Full Text] [Related]
8. Rapid whole-genome sequencing identifies a novel homozygous
Hildreth A; Wigby K; Chowdhury S; Nahas S; Barea J; Ordonez P; Batalov S; Dimmock D; Kingsmore S;
Cold Spring Harb Mol Case Stud; 2017 Sep; 3(5):. PubMed ID: 28550066
[TBL] [Abstract][Full Text] [Related]
9. The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
Jeyaraj R; Bounford KM; Ruth N; Lloyd C; MacDonald F; Hendriksz CJ; Baumann U; Gissen P; Kelly D
Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828443
[TBL] [Abstract][Full Text] [Related]
10. Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.
Wu W; Lu CX; Wang YN; Liu F; Chen W; Liu YT; Han YC; Cao J; Zhang SY; Zhang X
J Am Heart Assoc; 2015 Jul; 4(7):. PubMed ID: 26163040
[TBL] [Abstract][Full Text] [Related]
11. [Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
Wang MJ; Zhong XM; Ma X; Ning HJ; Zhu D; Gong YZ; Jin M
Zhongguo Dang Dai Er Ke Za Zhi; 2021 Jan; 23(1):91-97. PubMed ID: 33476544
[TBL] [Abstract][Full Text] [Related]
12. Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S; Wang L; Zhao D; Zhang Y; Chen Y; Tan J; Liang L; Zhu T
Mol Genet Genomic Med; 2019 Jun; 7(6):e684. PubMed ID: 30968598
[TBL] [Abstract][Full Text] [Related]
13. Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S26-35. PubMed ID: 23141890
[TBL] [Abstract][Full Text] [Related]
14. Clinical validation of targeted next-generation sequencing for inherited disorders.
Yohe S; Hauge A; Bunjer K; Kemmer T; Bower M; Schomaker M; Onsongo G; Wilson J; Erdmann J; Zhou Y; Deshpande A; Spears MD; Beckman K; Silverstein KA; Thyagarajan B
Arch Pathol Lab Med; 2015 Feb; 139(2):204-10. PubMed ID: 25611102
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.
Stindt J; Ellinger P; Weissenberger K; Dröge C; Herebian D; Mayatepek E; Homey B; Braun S; Schulte am Esch J; Horacek M; Canbay A; Schmitt L; Häussinger D; Kubitz R
Liver Int; 2013 Nov; 33(10):1527-35. PubMed ID: 23758865
[TBL] [Abstract][Full Text] [Related]
16. Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.
Vogel GF; Maurer E; Entenmann A; Straub S; Knisely AS; Janecke AR; Müller T
Eur J Hum Genet; 2020 Jun; 28(6):840-844. PubMed ID: 32203204
[TBL] [Abstract][Full Text] [Related]
17. DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.
Shapiro R; Anikster Y; Yardeni T; Korem S; Hartman K; Shamir R; Broide E; Levine A; Bujanover Y; Bercovich D
J Hum Genet; 2010 May; 55(5):308-13. PubMed ID: 20414253
[TBL] [Abstract][Full Text] [Related]
18. A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.
Nobili V; Di Giandomenico S; Francalanci P; Callea F; Marcellini M; Santorelli FM
J Gastroenterol; 2006 Jun; 41(6):598-603. PubMed ID: 16868810
[TBL] [Abstract][Full Text] [Related]
19. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
Mori T; Hosomichi K; Chiga M; Mandai S; Nakaoka H; Sohara E; Okado T; Rai T; Sasaki S; Inoue I; Uchida S
Clin Exp Nephrol; 2017 Feb; 21(1):63-75. PubMed ID: 26920127
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G; Carmody D; Cheng YW; Nelakuditi V; Ma L; Dickens JT; Das S; Greeley SAW; Del Gaudio D
Mol Genet Metab; 2014 Dec; 113(4):315-320. PubMed ID: 25306193
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]