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Alagille syndrome

Watson-Alagille syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Alagille syndrome" returned 8 free, full-text review articles. First few results:
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.
Last Updated: Feb 25, 2020

paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1β ...

Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults.
Last Updated: Apr 30, 2020

Alagille syndrome (ALGS) is an autosomal-dominant multisystem disorder caused by mutations in Jagged 1 (JAG1) or NOTCH2. The penetrance is low but highly variable. It is almost exclusively diagnosed in children with cholestasis and, more rarely, in their adult relatives. Here, we ...

Alagille Syndrome.
Last Updated: Jul 09, 2019

Alagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical features. A majority of patients have pathogenic mutations in either the JAG1 gene, encoding a Notch pathway ligand, or the receptor NOTCH2. No genotype-phenotype ...

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8 Free Review Articles 32 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Alagille syndrome" returned 2 free, full-text editorial articles. First 2 results:
A child's battle with Alagille syndrome.
Last Updated: Jul 17, 2013

Full PubMed Editorials matches at NCBI:
2 Free Editorials 5 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Alagille syndrome" returned 73 free, full-text research articles. First few results:
Novel Deletion Variant in Patient with Atypical Alagille Syndrome.
Last Updated: Apr 22, 2020

Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by various degrees of abnormalities in the liver, heart, eyes, vertebrae, kidneys, face, vasculature, skeleton, and pancreas. This case report describes a newborn child exhibiting a congenital neural tube defect ...

Orthopaedic Manifestations of Alagille Syndrome: A Report of Two Cases and an Updated Literature Review.
Last Updated: Jul 20, 2020

Case 1 is a 6-month-old female who presented for evaluation of asymptomatic vertebral anomalies in the setting of jaundice and cardiac murmur; she was diagnosed with Alagille syndrome (AGS). Her spine has been monitored clinically. Case 2 is a 10-year-old female who sustained a pathologic ...

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73 Free Research Articles 343 Research Articles