Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome-Reference-Cited by-同舟云学术

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Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome

Published:2017-08-02 Issue:11 Volume:106 Page:1817-1824
ISSN:0803-5253
Container-title:Acta Paediatrica
language:en
Short-container-title:Acta Paediatr

Author:

Ohashi Kei¹,Togawa Takao¹,Sugiura Tokio¹,Ito Koichi¹,Endo Takeshi¹,Aoyama Kohei¹,Negishi Yutaka¹,Kudo Toyoichiro²,Ito Reiko²,Saitoh Shinji¹

Affiliation:

1. Department of Pediatrics and Neonatology; Graduate School of Medical Sciences; Nagoya City University; Nagoya Japan

2. Department of Hepatology; National Medical Center for Children and Mothers; National Center for Child Health and Development; Tokyo Japan

Funder

Grant-in-Aid for Young Scientists (B)

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/apa.13981/fullpdf

Reference30 articles.

1. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases;Alagille;J Pediatr,1987

2. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1;Li;Nat Genet,1997

3. Mutations in the human Jagged1 gene are responsible for Alagille syndrome;Oda;Nat Genet,1997

4. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway;McDaniell;Am J Hum Genet,2006

5. NOTCH2 mutations in Alagille syndrome;Kamath;J Med Genet,2012

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1. Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease;International Journal of Molecular Sciences;2023-07-21

2. JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome;JPGN Reports;2023-07-17

3. Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients;Liver International;2022-05-23

4. Biliary Atresia: A Complex Hepatobiliary Disease with Variable Gene Involvement, Diagnostic Procedures, and Prognosis;Diagnostics;2022-01-27

5. A Case of Infantile Alagille Syndrome With Severe Dyslipidemia: New Insight into Lipid Metabolism and Therapeutics;Journal of the Endocrine Society;2022-01-18

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