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Items: 17

1.
De novo formation of the biliary system by TGFβ-mediated hepatocyte transdifferentiation
Johanna R. Schaub, Kari A. Huppert, Simone N. T. Kurial, Bernadette Y. Hsu, Ashley E. Cast, Bryan Donnelly, Rebekah A. Karns, Feng Chen, Milad Rezvani, Hubert Y. Luu, Aras N. Mattis, Anne-Laure Rougemont, Philip Rosenthal, Stacey S. Huppert, Holger Willenbring
Nature. Author manuscript; available in PMC 2019 Jun 28.
Published in final edited form as: Nature. 2018 May; 557(7704): 247–251. Published online 2018 May 2. doi: 10.1038/s41586-018-0075-5
PMCID:
PMC6597492
ArticlePDF–4.5M
2.
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G. Holz, Elisabeth Mangold, Hanno J. Bolz, Peter Charbel Issa
Sci Rep. 2018; 8: 4824. Published online 2018 Mar 19. doi: 10.1038/s41598-018-22096-0
PMCID:
PMC5859282
ArticlePDF–2.3M
3.
Renal Anomalies in Alagille Syndrome: A Disease-Defining Feature
Binita M. Kamath, Gisele Podkameni, Anne L. Hutchinson, Laura D. Leonard, Jennifer Gerfen, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner, Kathleen M. Loomes, Kevin Meyers
Am J Med Genet A. Author manuscript; available in PMC 2015 Jul 22.
Published in final edited form as: Am J Med Genet A. 2012 Jan; 0(1): 85–89. Published online 2011 Nov 21. doi: 10.1002/ajmg.a.34369
PMCID:
PMC4511708
ArticlePDF–102K
4.
Alagille syndrome: pathogenesis, diagnosis and management
Peter D Turnpenny, Sian Ellard
Eur J Hum Genet. 2012 Mar; 20(3): 251–257. Published online 2011 Sep 21. doi: 10.1038/ejhg.2011.181
PMCID:
PMC3283172
ArticlePDF–449K
5.
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.
N. B. Spinner, E. B. Rand, P. Fortina, A. Genin, R. Taub, A. Semeraro, D. A. Piccoli
Am J Hum Genet. 1994 Aug; 55(2): 238–243.
PMCID:
PMC1918350
SummaryPage BrowsePDF–1.1M
6.
Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.
E B Rand, N B Spinner, D A Piccoli, P F Whitington, R Taub
Am J Hum Genet. 1995 Nov; 57(5): 1068–1073.
PMCID:
PMC1801384
SummaryPage BrowsePDF–1.2M
7.
Consequences of JAG1 mutations
B Kamath, L Bason, D Piccoli, I Krantz, N Spinner
J Med Genet. 2003 Dec; 40(12): 891–895. doi: 10.1136/jmg.40.12.891
PMCID:
PMC1735339
SummaryPDF–228K
8.
Outcome of liver disease in children with Alagille syndrome: a study of 163 patients
P Lykavieris, M Hadchouel, C Chardot, O Bernard
Gut. 2001 Sep; 49(3): 431–435. doi: 10.1136/gut.49.3.431
PMCID:
PMC1728437
SummaryPDF–124K
9.
Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease
G. H. Watson, V. Miller
Arch Dis Child. 1973 Jun; 48(6): 459–466. doi: 10.1136/adc.48.6.459
PMCID:
PMC1648450
SummaryPage BrowsePDF–1.5M
10.
Studies of the aetiology of neonatal hepatitis and biliary atresia.
D M Danks, P E Campbell, I Jack, J Rogers, A L Smith
Arch Dis Child. 1977 May; 52(5): 360–367. doi: 10.1136/adc.52.5.360
PMCID:
PMC1544552
SummaryPage BrowsePDF–1.1M
11.
Alagille's syndrome associated with cystic renal disease.
S R Martin, L Garel, F Alvarez
Arch Dis Child. 1996 Mar; 74(3): 232–235. doi: 10.1136/adc.74.3.232
PMCID:
PMC1511404
SummaryPage BrowsePDF–987K
12.
Alagille syndrome.
I D Krantz, D A Piccoli, N B Spinner
J Med Genet. 1997 Feb; 34(2): 152–157. doi: 10.1136/jmg.34.2.152
PMCID:
PMC1050871
SummaryPage BrowsePDF–1.5M
13.
Alagille syndrome: family studies.
F V Elmslie, A J Vivian, H Gardiner, C Hall, A P Mowat, R M Winter
J Med Genet. 1995 Apr; 32(4): 264–268. doi: 10.1136/jmg.32.4.264
PMCID:
PMC1050372
SummaryPage BrowsePDF–1.1M
14.
The Alagille syndrome (arteriohepatic dysplasia).
R F Mueller
J Med Genet. 1987 Oct; 24(10): 621–626. doi: 10.1136/jmg.24.10.621
PMCID:
PMC1050291
SummaryPage BrowsePDF–1.2M
15.
Segregation analysis of Alagille syndrome.
S Dhorne-Pollet, J F Deleuze, M Hadchouel, C Bonaïti-Pellié
J Med Genet. 1994 Jun; 31(6): 453–457. doi: 10.1136/jmg.31.6.453
PMCID:
PMC1049922
SummaryPage BrowsePDF–770K
16.
Alagille syndrome and deletion of 20p.
F Anad, J Burn, D Matthews, I Cross, B C Davison, R Mueller, M Sands, D M Lillington, E Eastham
J Med Genet. 1990 Dec; 27(12): 729–737. doi: 10.1136/jmg.27.12.729
PMCID:
PMC1017275
SummaryPage BrowsePDF–1.5M
17.
Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
C Desmaze, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, A Aurias
J Med Genet. 1992 Apr; 29(4): 233–235. doi: 10.1136/jmg.29.4.233
PMCID:
PMC1015919
SummaryPage BrowsePDF–607K

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