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Research Article

The Genetics and Ocular Findings of Alagille Syndrome

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Pages 205-210 | Published online: 02 Jul 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (4)

Jennifer Halma & Henry C. Lin. (2023) Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact. Expert Review of Gastroenterology & Hepatology 17:9, pages 883-892.
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Jagadeesh Menon, Naresh Shanmugam, Mukul Vij, Ashwin Rammohan & Mohamed Rela. (2022) Multidisciplinary Management of Alagille Syndrome. Journal of Multidisciplinary Healthcare 15, pages 353-364.
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Miriam Ehrenberg, Laura Bagdonite-Bejarano, Anne B. Fulton, Naama Orenstein & Claudia Yahalom. (2021) Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. Ophthalmic Genetics 42:3, pages 243-251.
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Masanori Fukumoto, Tsunehiko Ikeda, Tetsuya Sugiyama, Mari Ueki, Takaki Sato & Eisuke Ishizaki. (2013) A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment. Clinical Ophthalmology 7, pages 1463-1465.
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Articles from other publishers (47)

Mohammed D. Ayoub, Ahmad A. Bakhsh, Shannon M. Vandriel, Verena Keitel & Binita M. Kamath. (2023) Management of adults with Alagille syndrome. Hepatology International.
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Simona Hankeova, Noemi Van Hul, Jakub Laznovsky, Elisabeth Verboven, Katrin Mangold, Naomi Hensens, Csaba Adori, Elvira Verhoef, Tomas Zikmund, Feven Dawit, Michaela Kavkova, Jakub Salplachta, Marika Sjöqvist, Bengt R Johansson, Mohamed G Hassan, Linda Fredriksson, Karsten Baumgärtel, Vitezslav Bryja, Urban Lendahl, Andrew Jheon, Florian Alten, Kristina Teär Fahnehjelm, Björn Fischler, Jozef Kaiser & Emma R Andersson. (2022) Sex differences and risk factors for bleeding in Alagille syndrome. EMBO Molecular Medicine 14:12.
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Nobuhiro Kato, Masatoshi Haruta, Ryuta Takase, Yoriko Watanabe & Shigeo Yoshida. (2021) Ultra-widefield and anterior-segment optical coherence tomography in Alagille syndrome. American Journal of Ophthalmology Case Reports 24, pages 101213.
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Prashanth G. Iyer, Harry W. FlynnJrJr, Kenneth C. Fan, Audina M. Berrocal & Raquel Goldhardt. (2021) Optic Pit Maculopathy: Clinical Features and Management Options. Current Ophthalmology Reports 9:4, pages 158-167.
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Muhammad R. Cheema, Lydia G. Stone, Peter W. Sellar, Stephanie Quinn, Stephen C. Clark, Richard J. Martin, Jill M. O’Brien, Clare Warriner & Andrew C. Browning. (2021) Long-term follow-up of a patient with JAG1-associated retinopathy. Documenta Ophthalmologica 143:2, pages 237-247.
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Manolis Polemikos, Elvis J. Hermann, Hans E. Heissler, Hans Hartmann & Joachim K. Krauss. (2021) Pseudotumor cerebri syndrome in a child with Alagille syndrome: intracranial pressure dynamics and treatment outcome after ventriculoperitoneal shunting. Child's Nervous System 37:9, pages 2899-2904.
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Konstantinos F. Katsoulos, Zoi Kapsala & Gerasimos Livir-Rallatos. (2021) Case Report: Alagille Syndrome Presenting with Angioid Streaks. Optometry and Vision Science 98:2, pages 109-112.
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PremN Patel, KaylieD Jones, DavidB Birch & RafaelL Ufret-Vincenty. (2021) Asymmetric maculopathy with mutations in adenosine triphosphate-binding cassette, sub-family A, member 4 and jagged canonical notch ligand 1 after 30 years of monocular aphakia. Indian Journal of Ophthalmology - Case Reports 1:4, pages 699.
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Kathleen M. Loomes & Karan McBride Emerick. 2021. Pediatric Gastrointestinal and Liver Disease. Pediatric Gastrointestinal and Liver Disease 769 785.e5 .
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Erin Zampaglione, Benyam Kinde, Emily M. Place, Daniel Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J. Alex Mazzone, Caitlin Finn, Dana Schlegel, Jason Comander, Eric A. Pierce & Kinga M. Bujakowska. (2020) Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genetics in Medicine 22:6, pages 1079-1087.
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Livio Vitiello, Maddalena De Bernardo, Salvatore Guercio Nuzio, Claudia Mandato, Nicola Rosa & Pietro Vajro. (2020) Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other. Digestive and Liver Disease 52:1, pages 1-8.
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Siobhan Delaney, Ged O'Connor, William Reardon, Stephen J. X. Murphy, Sean Tierney, Barbara M. Ryan, Holly Delaney, Colin P. Doherty, Michael Guiney, Paul Brennan, W. Oliver Tobin & Dominick J. H. McCabe. (2019) Extracranial and Intracranial Vasculopathy With “Moyamoya Phenomenon” in Association With Alagille Syndrome. Frontiers in Neurology 9.
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Ellen Mitchell, Melissa Gilbert & Kathleen M. Loomes. (2018) Alagille Syndrome. Clinics in Liver Disease 22:4, pages 625-641.
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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. (2018) Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Scientific Reports 8:1.
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N. Mart?n-Begu?M. Saint-Gerons. (2016) Congenital optic nerve anomalies. Archivos de la Sociedad Espa?ola de Oftalmolog?a (English Edition) 91:12, pages 577-588.
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Eyvind Rødahl, Per M. Knappskog, Jacek Majewski, Stefan Johansson, Wenche Telstad, Jostein Kråkenes & Helge Boman. (2013) Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation. American Journal of Ophthalmology 155:5, pages 946-953.e2.
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Linda M. Reis & Elena V. Semina. (2011) Genetics of anterior segment dysgenesis disorders. Current Opinion in Ophthalmology 22:5, pages 314-324.
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Ilias Georgalas, Ioannis Ladas, Gerasimos Georgopoulos & Petros Petrou. (2011) Optic disc pit: a review. Graefe's Archive for Clinical and Experimental Ophthalmology 249:8, pages 1113-1122.
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Ichiro Onoyama, Atsushi Suzuki, Akinobu Matsumoto, Kengo Tomita, Hideki Katagiri, Yuichi Oike, Keiko Nakayama & Keiichi I. Nakayama. (2011) Fbxw7 regulates lipid metabolism and cell fate decisions in the mouse liver. Journal of Clinical Investigation 121:1, pages 342-354.
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