173 related articles for article (PubMed ID: 37471416)
1. Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M; Ciara E; Slatinská J; Fraňková S; Lišková P; Kotalová R; Globinovská J; Šafaříková M; Pfeiferová L; Zůnová H; Mrázová L; Stránecký V; Vrbacká A; Fabián O; Sticová E; Skanderová D; Šperl J; Kalousová M; Zima T; Macek M; Pawlowska J; Knisely AS; Kmoch S; Jirsa M
PLoS One; 2023; 18(7):e0288907. PubMed ID: 37471416
[TBL] [Abstract][Full Text] [Related]
2. Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
Zheng Y; Guo H; Chen L; Cheng W; Yan K; Zhang Z; Li M; Jin Y; Hu G; Wang C; Zhou C; Zhou W; Jia Z; Zheng B; Liu Z
Hepatol Int; 2024 Apr; 18(2):661-672. PubMed ID: 37314652
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Mínguez Rodríguez B; Molera Busoms C; Martorell Sampol L; García Romero R; Colomé Rivero G; Martín de Carpi J
Gastroenterol Hepatol; 2022 Oct; 45(8):585-592. PubMed ID: 34942279
[TBL] [Abstract][Full Text] [Related]
5. Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Jüngst C; Justinger C; Fischer J; Berg T; Lammert F
Dig Dis; 2022; 40(4):489-496. PubMed ID: 34348275
[TBL] [Abstract][Full Text] [Related]
6. Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Huynh MT; Nguyen TT; Grison S; Lascols O; Fernandez E; Barbu V
Rev Esp Enferm Dig; 2019 Oct; 111(10):775-788. PubMed ID: 31538484
[TBL] [Abstract][Full Text] [Related]
7. Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS; Foskett P; Strautnieks S; Agarwal K; Miquel R; Joshi D; Thompson RJ
Hepatol Commun; 2022 Oct; 6(10):2654-2664. PubMed ID: 35894240
[TBL] [Abstract][Full Text] [Related]
8. Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Pham DH; Kudira R; Xu L; Valencia CA; Ellis JL; Shi T; Evason KJ; Osuji I; Matuschek N; Pfuhler L; Mullen M; Mohanty SK; Husami A; Bull LN; Zhang K; Wali S; Yin C; Miethke A
Gastroenterology; 2021 Jul; 161(1):287-300.e16. PubMed ID: 33771553
[TBL] [Abstract][Full Text] [Related]
9. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C; Bonus M; Baumann U; Klindt C; Lainka E; Kathemann S; Brinkert F; Grabhorn E; Pfister ED; Wenning D; Fichtner A; Gotthardt DN; Weiss KH; McKiernan P; Puri RD; Verma IC; Kluge S; Gohlke H; Schmitt L; Kubitz R; Häussinger D; Keitel V
J Hepatol; 2017 Dec; 67(6):1253-1264. PubMed ID: 28733223
[TBL] [Abstract][Full Text] [Related]
10. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.
McInerney-Leo AM; Harris JE; Leo PJ; Marshall MS; Gardiner B; Kinning E; Leong HY; McKenzie F; Ong WP; Vodopiutz J; Wicking C; Brown MA; Zankl A; Duncan EL
Clin Genet; 2015 Dec; 88(6):550-7. PubMed ID: 25492405
[TBL] [Abstract][Full Text] [Related]
11. Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
Hegarty R; Gurra O; Tarawally J; Allouni S; Rahman O; Strautnieks S; Kyrana E; Hadzic N; Thompson RJ; Grammatikopoulos T
J Pediatr Gastroenterol Nutr; 2024 Feb; 78(2):339-349. PubMed ID: 38374565
[TBL] [Abstract][Full Text] [Related]
12. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Bujakowska KM; Zhang Q; Siemiatkowska AM; Liu Q; Place E; Falk MJ; Consugar M; Lancelot ME; Antonio A; Lonjou C; Carpentier W; Mohand-Saïd S; den Hollander AI; Cremers FP; Leroy BP; Gai X; Sahel JA; van den Born LI; Collin RW; Zeitz C; Audo I; Pierce EA
Hum Mol Genet; 2015 Jan; 24(1):230-42. PubMed ID: 25168386
[TBL] [Abstract][Full Text] [Related]
13. Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y; Zhou L; Chen J; Huang X; Pang J; Liu J; Tang W; Yang S; Liang C; Xie W
BMC Med Genomics; 2023 Dec; 16(1):318. PubMed ID: 38062428
[TBL] [Abstract][Full Text] [Related]
14. Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
Vitale G; Pirillo M; Mantovani V; Marasco E; Aquilano A; Gamal N; Francalanci P; Conti F; Andreone P
Ann Hepatol; 2016; 15(5):795-800. PubMed ID: 27493120
[TBL] [Abstract][Full Text] [Related]
15. Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Nayagam JS; Williamson C; Joshi D; Thompson RJ
Aliment Pharmacol Ther; 2020 Dec; 52(11-12):1628-1639. PubMed ID: 33070363
[TBL] [Abstract][Full Text] [Related]
16. ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
Al-Hussaini A; Lone K; Bashir MS; Alrashidi S; Fagih M; Alanazi A; AlYaseen S; Almayouf A; Alruwaithi M; Asery A
J Pediatr; 2021 Sep; 236():113-123.e2. PubMed ID: 33915153
[TBL] [Abstract][Full Text] [Related]
17. Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
Qi Z; Shen Y; Fu Q; Li W; Yang W; Xu W; Chu P; Zhang Y; Wang H
Sci China Life Sci; 2017 Jul; 60(7):739-745. PubMed ID: 28624958
[TBL] [Abstract][Full Text] [Related]
18. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Zhang J; Yang Y; Gong JY; Li LT; Li JQ; Zhang MH; Lu Y; Xie XB; Hong YR; Yu Z; Knisely AS; Wang JS
Liver Int; 2020 May; 40(5):1142-1150. PubMed ID: 32124521
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
Schaefer E; Stoetzel C; Scheidecker S; Geoffroy V; Prasad MK; Redin C; Missotte I; Lacombe D; Mandel JL; Muller J; Dollfus H
J Hum Genet; 2016 May; 61(5):447-50. PubMed ID: 26763875
[TBL] [Abstract][Full Text] [Related]
20. Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
Lipiński P; Ciara E; Jurkiewicz D; Płoski R; Wawrzynowicz-Syczewska M; Pawłowska J; Jankowska I
Ann Hepatol; 2021; 25():100342. PubMed ID: 33757843
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
