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1 . Academic Journal
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
저자
by
Tsai, Ellen A.
;
Gilbert, Melissa A.
;
Grochowski, Christopher M.
;
Underkoffler, Lara A.
;
Meng, He
, et al.
소스
In
Cellular and Molecular Gastroenterology and Hepatology
September 2016 2(5):663-675
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7 .
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene
저자
by
Hatim, Omer
;
Xu, Miao
;
Pavlinov, Ivan
;
Linask, Kaari
;
Beers, Jeanette
, et al.
소스
In
Stem Cell Research
June 2024 77
Full Text (ScienceDirect)
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7 . Academic Journal
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
저자
by
Vandriel, Shannon M.
;
Li, Li‐Ting
;
She, Huiyu
;
Wang, Jian‐She
;
Gilbert, Melissa A.
, et al.
소스
Hepatology (02709139); Feb2023, Vol. 77 Issue 2, p512-529, 18p
Web of Science
Scopus
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7 . Academic Journal
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
저자
by
Kohut, Taisa J.
;
Gilbert, Melissa A.
;
Loomes, Kathleen M.
.
소스
Seminars in Liver Disease
. 2021, Vol. 41 Issue 4, p525-537. 13p.
Web of Science
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5 . Academic Journal
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
저자
by
Schindler, Emma A.
;
Gilbert, Melissa A.
;
Piccoli, David A.
;
Spinner, Nancy B.
;
Krantz, Ian D.
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p719-731, 13p
Web of Science
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7 . Academic Journal
Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
저자
by
Gilbert, Melissa A.
;
Schultz‐Rogers, Laura
;
Rajagopalan, Ramakrishnan
;
Grochowski, Christopher M.
;
Wilkins, Benjamin J.
, et al.
소스
Human Mutation; May2020, Vol. 41 Issue 5, p973-982, 10p
Web of Science
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7 . Academic Journal
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
저자
by
Gilbert, Melissa A.
;
Bauer, Robert C.
;
Rajagopalan, Ramakrishnan
;
Grochowski, Christopher M.
;
Chao, Grace
, et al.
소스
Human Mutation; Dec2019, Vol. 40 Issue 12, p2197-2220, 24p
Web of Science
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7 . Academic Journal
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
저자
by
Chen, Ying
;
Gilbert, Melissa A.
;
Grochowski, Christopher M.
;
McEldrew, Deborah
;
Llewellyn, Jessica
, et al.
소스
PLoS Genetics
. 8/13/2018, Vol. 14 Issue 8, p1-19. 19p.
Scopus
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7 . Academic Journal
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
저자
by
Rajagopalan, Ramakrishnan
;
Gilbert, Melissa A.
;
McEldrew, Deborah A.
;
Nassur, James A.
;
Loomes, Kathleen M.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(2):323-330
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7 .
Application of real-world evidence analytics: A 6-year event-free survival analysis in alagille syndrome of the gala clinical research database and maralixibat treated patients
저자
by
Hansen, Bettina E.
;
Vandriel, Shannon M.
;
Vig, Pamela
;
Garner, Will
;
Li, Li-Ting
, et al.
소스
Hepatology, 74(6), 1387A-1389A. Wiley
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