68 related articles for article (PubMed ID: 27706244)
1. Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW; Lee H; Shin M; Seong MW; Moon JS; Ko JS
J Gastroenterol Hepatol; 2024 May; 39(5):964-974. PubMed ID: 38323732
[TBL] [Abstract][Full Text] [Related]
2. Review of Computational Methods and Database Sources for Predicting the Effects of Coding Frameshift Small Insertion and Deletion Variations.
Ge F; Arif M; Yan Z; Alahmadi H; Worachartcheewan A; Shoombuatong W
ACS Omega; 2024 Jan; 9(2):2032-2047. PubMed ID: 38250421
[TBL] [Abstract][Full Text] [Related]
3. SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
Zeng HS; Lin WX; Zhao ST; Zhang ZH; Yang HW; Chen FP; Song YZ; Yin ZN
Mol Med Rep; 2016 Dec; 14(6):5189-5194. PubMed ID: 27779681
[TBL] [Abstract][Full Text] [Related]
4. Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis.
Liu T; Wang RX; Han J; Li ZD; Sheps JA; Zheng LJ; Xu XX; Ling V; Wang JS
J Clin Transl Hepatol; 2024 Feb; 12(2):151-161. PubMed ID: 38343606
[TBL] [Abstract][Full Text] [Related]
5. Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S; Togawa T; Imagawa K; Ito K; Endo T; Sugiura T; Saitoh S
JPGN Rep; 2022 May; 3(2):e196. PubMed ID: 37168916
[TBL] [Abstract][Full Text] [Related]
6. Biallelic Novel
Gezdirici A; Kalaycik Şengül Ö; Doğan M; Özgüven BY; Akbulut E
Mol Syndromol; 2023 Jan; 13(6):471-484. PubMed ID: 36660033
[TBL] [Abstract][Full Text] [Related]
7. Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M; Spraul A; Ruiz M; Girard M; Roquelaure B; Laborde N; Gottrand F; Turquet A; Lamireau T; Dabadie A; Bonneton M; Thebaut A; Rohmer B; Lacaille F; Broué P; Fabre A; Mention-Mulliez K; Bouligand J; Jacquemin E; Gonzales E
Diagnostics (Basel); 2022 May; 12(5):. PubMed ID: 35626323
[TBL] [Abstract][Full Text] [Related]
8. Etiology of neonatal cholestasis after emerging molecular diagnostics.
Wang H; Yang L; Wang J
Transl Pediatr; 2022 Mar; 11(3):359-367. PubMed ID: 35378957
[TBL] [Abstract][Full Text] [Related]
9. The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.
Wang NL; Chen L; Lu Y; Xie XB; Lin J; Abuduxikuer K; Wang JS
Front Genet; 2022; 13():867413. PubMed ID: 35368683
[TBL] [Abstract][Full Text] [Related]
10. Genomic medicine for liver disease.
Zheng M; Allington G; Vilarinho S
Hepatology; 2022 Sep; 76(3):860-868. PubMed ID: 35076957
[No Abstract] [Full Text] [Related]
11. Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention.
Feldman AG; Sokol RJ
Neoreviews; 2021 Dec; 22(12):e819-e836. PubMed ID: 34850148
[TBL] [Abstract][Full Text] [Related]
12. Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ
Zhao J; Setchell KDR; Gong Y; Sun Y; Zhang P; Heubi JE; Fang L; Lu Y; Xie X; Gong J; Wang JS
Orphanet J Rare Dis; 2021 Oct; 16(1):417. PubMed ID: 34627351
[TBL] [Abstract][Full Text] [Related]
13. Recent developments in diagnostics and treatment of neonatal cholestasis.
Feldman AG; Sokol RJ
Semin Pediatr Surg; 2020 Aug; 29(4):150945. PubMed ID: 32861449
[TBL] [Abstract][Full Text] [Related]
14. Pediatric Cholestasis: Epidemiology, Genetics, Diagnosis, and Current Management.
Karpen SJ
Clin Liver Dis (Hoboken); 2020 Mar; 15(3):115-119. PubMed ID: 32685137
[TBL] [Abstract][Full Text] [Related]
15. Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.
Liu T; Wang RX; Han J; Qiu YL; Borchers CH; Ling V; Wang JS
Ann Transl Med; 2020 Mar; 8(5):185. PubMed ID: 32309332
[TBL] [Abstract][Full Text] [Related]
16. Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
Zhang MH; Setchell KD; Zhao J; Gong JY; Lu Y; Wang JS
World J Gastroenterol; 2019 Feb; 25(7):859-869. PubMed ID: 30809085
[TBL] [Abstract][Full Text] [Related]
17. Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G; Gitto S; Raimondi F; Mattiaccio A; Mantovani V; Vukotic R; D'Errico A; Seri M; Russell RB; Andreone P
J Gastroenterol; 2018 Aug; 53(8):945-958. PubMed ID: 29238877
[TBL] [Abstract][Full Text] [Related]
18. Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL; Gong JY; Feng JY; Wang RX; Han J; Liu T; Lu Y; Li LT; Zhang MH; Sheps JA; Wang NL; Yan YY; Li JQ; Chen L; Borchers CH; Sipos B; Knisely AS; Ling V; Xing QH; Wang JS
Hepatology; 2017 May; 65(5):1655-1669. PubMed ID: 28027573
[TBL] [Abstract][Full Text] [Related]
19. A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Wang NL; Lu YL; Zhang P; Zhang MH; Gong JY; Lu Y; Xie XB; Qiu YL; Yan YY; Wu BB; Wang JS
PLoS One; 2016; 11(10):e0164058. PubMed ID: 27706244
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
