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1993 1
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2002 10
2003 6
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147 results

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Page 1
Alagille Syndrome: An Overview.
Jesina D. Jesina D. Neonatal Netw. 2017 Nov 1;36(6):343-347. doi: 10.1891/0730-0832.36.6.343. Neonatal Netw. 2017. PMID: 29185945 Review.
Alagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. ...In this discussion of AGS, the clinical features as well as management are discussed....
Alagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the …
Alagille syndrome.
Hadchouel M. Hadchouel M. Indian J Pediatr. 2002 Sep;69(9):815-8. doi: 10.1007/BF02723697. Indian J Pediatr. 2002. PMID: 12420916 Review.
Alagille syndrome (AGS) was described more than 35 years ago as a genetic entity characterised by five major features: chronic cholestasis owing to paucity of interlobular bile ducts; peripheral pulmonary stenosis; butterfly like vertebral arch defect; poster …
Alagille syndrome (AGS) was described more than 35 years ago as a genetic entity characterised by five major features: …
Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis.
Fujishiro J, Suzuki K, Watanabe M, Uotani C, Takezoe T, Takamoto N, Hayashi K. Fujishiro J, et al. Pediatr Surg Int. 2018 Oct;34(10):1073-1077. doi: 10.1007/s00383-018-4316-3. Epub 2018 Aug 2. Pediatr Surg Int. 2018. PMID: 30073479 Review.
PURPOSE: Infants with Alagille syndrome (AGS) frequently develop neonatal cholestasis, and some AGS infants who suspected of biliary atresia subsequently undergo the Kasai operation with the diagnosis of biliary atresia. ...CONCLUSION: The Kasai operat …
PURPOSE: Infants with Alagille syndrome (AGS) frequently develop neonatal cholestasis, and some AGS infants who …
Clinical and Genetic Characteristics of Alagille Syndrome in Adults.
Li J, Wu H, Chen S, Pang J, Wang H, Li X, Gan W. Li J, et al. J Clin Transl Hepatol. 2023 Feb 28;11(1):156-162. doi: 10.14218/JCTH.2021.00313. Epub 2022 Mar 17. J Clin Transl Hepatol. 2023. PMID: 36406308 Free PMC article.
BACKGROUND AND AIMS: Alagille syndrome (AGS) is an autosomal dominant multisystem disorder caused by mutations in the JAG1 and NOTCH2 genes. ...The study aimed to improve the understanding of adult AGS by a descriptive case series. METHODS: Eight adult …
BACKGROUND AND AIMS: Alagille syndrome (AGS) is an autosomal dominant multisystem disorder caused by mutations in the J …
Oral manifestations of Alagille syndrome.
Bonnet AL, Greset V, Davit-Beal T. Bonnet AL, et al. BMJ Case Rep. 2020 May 31;13(5):e234689. doi: 10.1136/bcr-2020-234689. BMJ Case Rep. 2020. PMID: 32475824 Free PMC article.
Alagille syndrome (AGS) is a multisystem disorder classically involving liver and heart failure, characteristic vertebral and facial features and ocular abnormalities. AGS is caused by heterozygous mutations in JAG1 or NOTCH2, with variable phenotype p …
Alagille syndrome (AGS) is a multisystem disorder classically involving liver and heart failure, characteristic vertebr …
Alagille syndrome: family studies.
Elmslie FV, Vivian AJ, Gardiner H, Hall C, Mowat AP, Winter RM. Elmslie FV, et al. J Med Genet. 1995 Apr;32(4):264-8. doi: 10.1136/jmg.32.4.264. J Med Genet. 1995. PMID: 7643353 Free PMC article.
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. ...
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mor …
Syndromes with aortic involvement: pictorial review.
Zucker EJ. Zucker EJ. Cardiovasc Diagn Ther. 2018 Apr;8(Suppl 1):S71-S81. doi: 10.21037/cdt.2017.09.14. Cardiovasc Diagn Ther. 2018. PMID: 29850420 Free PMC article. Review.
While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic diseas …
While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an u …
Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.
Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M. Crosnier C, et al. Clin Liver Dis. 2000 Nov;4(4):765-78. doi: 10.1016/s1089-3261(05)70140-9. Clin Liver Dis. 2000. PMID: 11232356 Review.
Alagille syndrome was described more than 35 years ago as a genetic entity characterized by five major features: chronic cholestasis resulting from paucity of interlobular bile ducts, peripheral pulmonary stenosis, butterflylike vertebral arch defect, posterior embr …
Alagille syndrome was described more than 35 years ago as a genetic entity characterized by five major features: chronic chole …
Surgical outcomes in Alagille syndrome and PFIC: A single institution's 20-year experience.
Flores CD, Yu YR, Miloh TA, Goss J, Brandt ML. Flores CD, et al. J Pediatr Surg. 2018 May;53(5):976-979. doi: 10.1016/j.jpedsurg.2018.02.026. Epub 2018 Feb 9. J Pediatr Surg. 2018. PMID: 29729773
BACKGROUND: Alagille Syndrome (AGS) and Progressive Familial Intrahepatic Cholestasis (PFIC) are rare pediatric biliary disorders that lead to progressive liver disease. ...Two patients who were initially thought to have biliary atresia underwent hepatoportoe …
BACKGROUND: Alagille Syndrome (AGS) and Progressive Familial Intrahepatic Cholestasis (PFIC) are rare pediatric biliary …
Clinical and molecular genetics of Alagille syndrome.
Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. Curr Opin Pediatr. 1999 Dec;11(6):558-64. doi: 10.1097/00008480-199912000-00015. Curr Opin Pediatr. 1999. PMID: 10590916 Review.
Alagille syndrome (AGS) is a dominantly inherited disorder characterized by bile duct paucity and resultant liver disease in combination with cardiac, skeletal, ocular, and facial abnormalities. ...This suggests that haploinsufficiency for JAG1 is a mechanism …
Alagille syndrome (AGS) is a dominantly inherited disorder characterized by bile duct paucity and resultant liver disea …
147 results