Last Posted: Mar 28, 2019
- Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France.
Hureaux M et al. Prenatal diagnosis 2019 Mar
- Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
Ohashi Kei et al. Acta paediatrica (Oslo, Norway : 1992) 2017 Nov 106(11) 1817-1824
- Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.
Hu Ping et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Mar
- THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.
Tsai Ellen A, et al. Cellular and molecular gastroenterology and hepatology 2016 9 (5) 663-675.e2
- Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa Takao, et al. The Journal of pediatrics 2016 2
- Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.
Vázquez-Martínez Edgar Ricardo, et al. Meta gene 2014 12 32-40
- Clinical utility gene card for: Alagille Syndrome (ALGS).
- Renal anomalies in Alagille syndrome: a disease-defining feature.
Kamath Binita M, et al. American journal of medical genetics. Part A 2012 1 (1) 85-9
- Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Bauer Robert C, et al. Human mutation 2010 5 (5) 594-601
- Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Rauch Ralf, et al. Journal of medical genetics 2010 5 (5) 321-31
- Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome.
Suskind David L, et al. Hepatology (Baltimore, Md.) 2007 8 (2) 598-9
- Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.
McElhinney Doff B, et al. Circulation 2002 11 (20) 2567-74
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- Retinitis Pigmentosa
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.