PubMed (cited) for id: 118450

Year	Number of Results
1973	1
1975	1
1977	2
1978	1
1979	1
1980	1
1981	4
1982	2
1983	1
1984	2
1986	3
1987	3
1989	4
1990	3
1991	1
1992	2
1993	1
1994	5
1995	4
1996	2
1997	3
1998	1
1999	2
2000	1
2001	2
2002	5
2003	2
2004	2
2005	1
2007	1
2008	1
2009	1
2010	1
2011	2
2012	3
2018	2
2024	0

1

De novo formation of the biliary system by TGFβ-mediated hepatocyte transdifferentiation.

Schaub JR, Huppert KA, Kurial SNT, Hsu BY, Cast AE, Donnelly B, Karns RA, Chen F, Rezvani M, Luu HY, Mattis AN, Rougemont AL, Rosenthal P, Huppert SS, Willenbring H. Schaub JR, et al. Nature. 2018 May;557(7704):247-251. doi: 10.1038/s41586-018-0075-5. Epub 2018 May 2. Nature. 2018. PMID: 29720662 Free PMC article.

2

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.

3

Moyamoya vascular pattern in Alagille syndrome.

Rocha R, Soro I, Leitão A, Silva ML, Leão M. Rocha R, et al. Pediatr Neurol. 2012 Aug;47(2):125-8. doi: 10.1016/j.pediatrneurol.2012.04.014. Pediatr Neurol. 2012. PMID: 22759690

4

Renal anomalies in Alagille syndrome: a disease-defining feature.

Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K. Kamath BM, et al. Am J Med Genet A. 2012 Jan;158A(1):85-9. doi: 10.1002/ajmg.a.34369. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105858 Free PMC article.

5

Alagille syndrome: pathogenesis, diagnosis and management.

Turnpenny PD, Ellard S. Turnpenny PD, et al. Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934706 Free PMC article. Review.

6

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A. Rauch R, et al. J Med Genet. 2010 May;47(5):321-31. doi: 10.1136/jmg.2009.070391. Epub 2009 Nov 30. J Med Genet. 2010. PMID: 19948535 Free article.

7

Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.

El-Rassy I, Bou-Abdallah J, Al-Ghadban S, Bitar F, Nemer G. El-Rassy I, et al. Am J Med Genet A. 2008 Apr 1;146A(7):937-9. doi: 10.1002/ajmg.a.32225. Am J Med Genet A. 2008. PMID: 18266235 No abstract available.

8

Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.

Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M. Boyer-Di Ponio J, et al. Hum Mol Genet. 2007 Nov 15;16(22):2683-92. doi: 10.1093/hmg/ddm222. Epub 2007 Aug 24. Hum Mol Genet. 2007. PMID: 17720887

9

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.

Boyer J, Crosnier C, Driancourt C, Raynaud N, Gonzales M, Hadchouel M, Meunier-Rotival M. Boyer J, et al. Hum Genet. 2005 May;116(6):445-53. doi: 10.1007/s00439-005-1262-7. Epub 2005 Mar 17. Hum Genet. 2005. PMID: 15772854

10

Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.

Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID. Kamath BM, et al. Circulation. 2004 Mar 23;109(11):1354-8. doi: 10.1161/01.CIR.0000121361.01862.A4. Epub 2004 Mar 1. Circulation. 2004. PMID: 14993126 Review.

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