Alagille syndrome
Abdominal Coarctation and Alagille Syndrome
... in Alagille syndrome (AS), which is transmitted in an autosomal dominant ...http://www.pediatrics.org/cgi/content/full/106/1/e9; Alagille syndrome, abdominal ...
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Jagged1 in the portal vein mesenchyme regulates intrahepatic bile duct development: insights into Alagille syndrome
... Mutations in the human Notch ligand jagged 1 (JAG1) result in a multi-system disorder called Alagille syndrome (AGS). AGS is chiefly characterized by a paucity of intrahepatic bile ducts (IHBD), but also ...
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Pathological fracture of the femur in Alagille syndrome that was treated with low intensity pulsed ultrasound stimulation and an Ilizarov ring fixator: a case report
... To the best of our knowledge, no studies have reported use of the Ilizarov frame and LIPUS in diaphyseal femoral fractures in Alagille syndrome. The rationale for this tech- nique is immediate ...
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Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome
... Alagille syndrome (arterio-hepatic dysplasia) is an autosomal- dominant, multisystem disorder with a prevalence of 1 in 70,000 (1, 2), typically characterized by dysmorphic facial features, posterior ...
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Original Article JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome
... Abstract: Variations in the JAGGED1 gene have been found to cause Alagille syndrome. Nevertheless, no particu- lar hotspots in the gene have been found; any part of the entire coding regions for JAGGED1 may ...
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A 10 year old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report
... Background: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior ...
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Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region
... Whereas Alagille syndrome is a well characterized condition mainly caused by haploinsufficiency of JAG1 gene, with manifestations that can range from slight clinical findings to major symptoms in different ...
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Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome
... called Alagille syndrome, which includes tetralogy of Fallot among its more severe cardiac ...in Alagille Syndrome and it demonstrates a crucial role for Jag1 in valve ...
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Original Article De novo JAG1 gene deletion causes atypical severe Alagille syndrome in a Chinese child
... Abstract: Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder caused by defects in the Notch signaling pathway. The classical criteria for ALGS diagnosis include bile duct paucity on liver ...
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Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review
... to Alagille syndrome (AGS) and is variably characterized by the presence of at least three of the five following features: PILBD-associated chronic cholestasis, peripheral pulmonary artery stenosis, ...
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Sarcoidosis in a young child with Alagille syndrome: a case report
... of Alagille syndrome could explain some of his clinical features, such as hepatomegaly and failure to thrive ...in Alagille syndrome, though ...
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Alagille syndrome: clinical perspectives
... Abstract: Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver ...
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Bleeding Tendency in Children With Alagille Syndrome
... with Alagille syndrome are at special risk for bleeding; this should be taken into account before deciding on an in- vasive ...2003;111:167–170; Alagille syndrome, hemor- rhage, JAGGED1, ...
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Moyamoya Syndrome in Children With Alagille Syndrome: Additional Evidence of a Vasculopathy
... with Alagille syndrome when she presented with jaundice, pruritis, and failure to ...of Alagille syndrome included posterior embryo- toxon on eye examination (thickened Schwalbe’s ring in the ...
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Genomic Approaches to Understanding Variable Expressivity in Alagille Syndrome and Genetic Susceptibility to Biliary Atresia
... The remaining chapters of this dissertation are organized as follows. Chapters 2 and 3 will address variable expressivity in ALGS. Chapters 4-6 will investigate genetic susceptibility to BA. ALGS is a well-characterized ...
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Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion
... 35. Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, ...
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Human hepatic organoids for the analysis of human genetic diseases
... example, Alagille syndrome (ALGS) is an autosomal dominant genetic disorder (with incomplete penetrance) that is predominantly (94%) caused by mutations in the gene (JAG1) that codes for the NOTCH ligand ...
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Morbidity in Alagllle Syndrome in 6 Malaysian Children
... Morbidity in Alagllle Syndrome in 6 Malaysian Children ORIGINAL ARTICLE Morbidity in Alagille Syndrome in 6 Malaysian Children C B Lim, FRCPCH, Y S Choy, MRCP Institute of Paediatrics, Kuala Lumpur Ho[.] ...
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Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report
... pulmonary artery stenosis and bicuspid aortic valve. An eye examination demonstrated posterior embryotoxon. Although the operative finding suggested BA, the baby had clinical features consistent with Alagille ...
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Chronic Cholestatic Liver Disease With Associated Tubulointerstitial Nephropathy in Early Childhood
... The 2 patients reported in this article have clinical and pathologic features that do not conform to the childhood nephropathies known to be associated with hepatic involvement: AR-PKD and NPH with congenital hepatic ...
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