187 related articles for article (PubMed ID: 34071626)
1. Two Novel Mutations in the
Prochazková D; Borská R; Fajkusová L; Konečná P; Hloušková E; Pavlovský Z; Slabý O; Pospíšilová Š
Diagnostics (Basel); 2021 May; 11(6):. PubMed ID: 34071626
[TBL] [Abstract][Full Text] [Related]
2. NOTCH2 mutations in Alagille syndrome.
Kamath BM; Bauer RC; Loomes KM; Chao G; Gerfen J; Hutchinson A; Hardikar W; Hirschfield G; Jara P; Krantz ID; Lapunzina P; Leonard L; Ling S; Ng VL; Hoang PL; Piccoli DA; Spinner NB
J Med Genet; 2012 Feb; 49(2):138-44. PubMed ID: 22209762
[TBL] [Abstract][Full Text] [Related]
3. Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
Semenova N; Kamenets E; Annenkova E; Marakhonov A; Gusarova E; Demina N; Guseva D; Anisimova I; Degtyareva A; Taran N; Strokova T; Zakharova E
Int J Mol Sci; 2023 Jul; 24(14):. PubMed ID: 37511516
[TBL] [Abstract][Full Text] [Related]
4. Targeted Sequencing and RNA Assay Reveal a Noncanonical
Chen Y; Liu X; Chen S; Zhang J; Xu C
Front Genet; 2019; 10():1363. PubMed ID: 32038717
[TBL] [Abstract][Full Text] [Related]
5.
Tsai EA; Gilbert MA; Grochowski CM; Underkoffler LA; Meng H; Zhang X; Wang MM; Shitaye H; Hankenson KD; Piccoli D; Lin H; Kamath BM; Devoto M; Spinner NB; Loomes KM
Cell Mol Gastroenterol Hepatol; 2016 Sep; 2(5):663-675.e2. PubMed ID: 28090565
[TBL] [Abstract][Full Text] [Related]
6. Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.
Uddin MS; Al Fulayyih S; Al Denaini FF; Al Hatlani MM
Am J Case Rep; 2022 Oct; 23():e935840. PubMed ID: 36201396
[TBL] [Abstract][Full Text] [Related]
7. [Target gene sequence capture and next generation sequencing technology to diagnose four children with Alagille syndrome].
Gao ML; Zhong XM; Ma X; Ning HJ; Zhu D; Zou JZ
Zhonghua Er Ke Za Zhi; 2016 Jun; 54(6):441-5. PubMed ID: 27256232
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic analysis in Chinese children with Alagille syndrome.
Chen Y; Sun M; Teng X
BMC Pediatr; 2022 Nov; 22(1):688. PubMed ID: 36447191
[TBL] [Abstract][Full Text] [Related]
9. Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis.
Han Y; Zhu K; Wu H; Chen B; Hu S; Lai D; Tou J
Front Pediatr; 2022; 10():1017647. PubMed ID: 36340723
[TBL] [Abstract][Full Text] [Related]
10. Alagille syndrome caused by NOTCH2 mutation presented atypical pathological changes.
ShenTu Y; Mi X; Tang D; Jiang Y; Gao L; Ma X; Zhou B; Yang W; Shi J; Lan D; Chen G; Gong L
Clin Chim Acta; 2021 Oct; 521():258-263. PubMed ID: 34332988
[TBL] [Abstract][Full Text] [Related]
11. Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults.
Zhang W; Zhao X; Huang J; Ou X; Jia J
Rev Esp Enferm Dig; 2019 Apr; 111(4):323-326. PubMed ID: 30746957
[TBL] [Abstract][Full Text] [Related]
12. Novel Heterozygous Mutations in
Brennan A; Kesavan A
Case Rep Pediatr; 2017; 2017():1368189. PubMed ID: 28465853
[TBL] [Abstract][Full Text] [Related]
13. Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
Cho JM; Oh SH; Kim HJ; Kim JS; Kim KM; Kim GH; Yu E; Lee BH; Yoo HW
Pediatr Int; 2015 Aug; 57(4):552-7. PubMed ID: 25676721
[TBL] [Abstract][Full Text] [Related]
14. Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact.
Halma J; Lin HC
Expert Rev Gastroenterol Hepatol; 2023; 17(9):883-892. PubMed ID: 37668532
[TBL] [Abstract][Full Text] [Related]
15. [Clinical features and gene mutation analysis of patients with Alagille syndrome].
Liu XG; Wei HJ; Liu P; Liu X; Tang L; Yang Y; Li YR
Zhonghua Yi Xue Za Zhi; 2021 Aug; 101(31):2454-2459. PubMed ID: 34399559
[No Abstract] [Full Text] [Related]
16. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA; Bauer RC; Rajagopalan R; Grochowski CM; Chao G; McEldrew D; Nassur JA; Rand EB; Krock BL; Kamath BM; Krantz ID; Piccoli DA; Loomes KM; Spinner NB
Hum Mutat; 2019 Dec; 40(12):2197-2220. PubMed ID: 31343788
[TBL] [Abstract][Full Text] [Related]
17. Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.
Vozzi D; Licastro D; Martelossi S; Athanasakis E; Gasparini P; Fabretto A
Mol Syndromol; 2013 Apr; 4(4):207-10. PubMed ID: 23801938
[TBL] [Abstract][Full Text] [Related]
18. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
Guegan K; Stals K; Day M; Turnpenny P; Ellard S
Clin Genet; 2012 Jul; 82(1):33-40. PubMed ID: 21752016
[TBL] [Abstract][Full Text] [Related]
19. Alagille Syndrome: A Novel Mutation in
Fischetto R; Palmieri VV; Tripaldi ME; Gaeta A; Michelucci A; Delvecchio M; Francavilla R; Giordano P
Front Pediatr; 2019; 7():199. PubMed ID: 31157196
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]