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TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
Zhang J, Liu LL, Gong JY, Hao CZ, Qiu YL, Lu Y, Feng JY, Li JQ, Li ZD, Wang MX, Xing QH, Knisely AS, Wang JS. Zhang J, et al. Among authors: li jq, li zd. Hum Mutat. 2020 Feb;41(2):502-511. doi: 10.1002/humu.23947. Epub 2019 Nov 28. Hum Mutat. 2020. PMID: 31696999
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS. Luan W, et al. Among authors: li jq, li zd. J Med Genet. 2021 Aug;58(8):514-525. doi: 10.1136/jmedgenet-2019-106706. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737136
Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome.
Wang MX, Han J, Liu T, Wang RX, Li LT, Li ZD, Yang JC, Liu LL, Lu Y, Xie XB, Gong JY, Li SY, Zhang L, Ling V, Wang JS. Wang MX, et al. Among authors: li lt, li sy, li zd. World J Pediatr. 2023 Jul;19(7):652-662. doi: 10.1007/s12519-022-00676-5. Epub 2023 Jan 19. World J Pediatr. 2023. PMID: 36658452
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
294 results