Gilbert MA - Search Results

1

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

Chen Y, Gilbert MA, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M. Chen Y, et al. Among authors: gilbert ma. PLoS Genet. 2018 Aug 13;14(8):e1007532. doi: 10.1371/journal.pgen.1007532. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30102696 Free PMC article.

2

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB. Rajagopalan R, et al. Among authors: gilbert ma. Am J Med Genet A. 2016 Mar;170(3):750-3. doi: 10.1002/ajmg.a.37512. Epub 2015 Dec 24. Am J Med Genet A. 2016. PMID: 26697755

3

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.

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. Tsai EA, et al. Among authors: gilbert ma. Cell Mol Gastroenterol Hepatol. 2016 May 26;2(5):663-675.e2. doi: 10.1016/j.jcmgh.2016.05.013. eCollection 2016 Sep. Cell Mol Gastroenterol Hepatol. 2016. PMID: 28090565 Free PMC article.

4

Alagille syndrome: Genetics and Functional Models.

Gilbert MA, Spinner NB. Gilbert MA, et al. Curr Pathobiol Rep. 2017 Sep;5(3):233-241. doi: 10.1007/s40139-017-0144-8. Curr Pathobiol Rep. 2017. PMID: 29270332 Free PMC article.

5

Alagille Syndrome.

Mitchell E, Gilbert M, Loomes KM. Mitchell E, et al. Clin Liver Dis. 2018 Nov;22(4):625-641. doi: 10.1016/j.cld.2018.06.001. Epub 2018 Aug 22. Clin Liver Dis. 2018. PMID: 30266153 Review.

6

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. Gilbert MA, et al. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.

7

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Gilbert MA, et al. Hum Mutat. 2020 May;41(5):973-982. doi: 10.1002/humu.23986. Epub 2020 Feb 6. Hum Mutat. 2020. PMID: 31944481

8

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.

Rajagopalan R, Gilbert MA, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB. Rajagopalan R, et al. Among authors: gilbert ma. Genet Med. 2021 Feb;23(2):323-330. doi: 10.1038/s41436-020-00989-8. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077891 Free PMC article.

9

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.

Schindler EA, Gilbert MA, Piccoli DA, Spinner NB, Krantz ID, Loomes KM. Schindler EA, et al. Among authors: gilbert ma. Am J Med Genet A. 2021 Mar;185(3):719-731. doi: 10.1002/ajmg.a.62028. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369123 Free PMC article.

10

Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts.

Gilbert MA, Loomes KM. Gilbert MA, et al. Transl Gastroenterol Hepatol. 2021 Apr 5;6:22. doi: 10.21037/tgh-2020-03. eCollection 2021. Transl Gastroenterol Hepatol. 2021. PMID: 33824926 Free PMC article. Review.

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