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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 …
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. 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 …
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: 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 …
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 …
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.
Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID. Kamath BM, et al. Circulation. 2004 Mar 23;109(11):1354-8. doi: 10.1161/01.CIR.0000121361.01862.A4. Epub 2004 Mar 1. Circulation. 2004. PMID: 14993126 Review.
BACKGROUND: Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in Jagged1. Intracranial bleeding is a recognized complication and cause of mortality in AGS. T …
BACKGROUND: Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, fa …
Alagille syndrome: clinical and ocular pathognomonic features.
El-Koofy NM, El-Mahdy R, Fahmy ME, El-Hennawy A, Farag MY, El-Karaksy HM. El-Koofy NM, et al. Eur J Ophthalmol. 2011 Mar-Apr;21(2):199-206. doi: 10.5301/ejo.2010.5675. Eur J Ophthalmol. 2011. PMID: 20677167
PURPOSE: This study was carried out to determine the frequency of clinical diagnostic criteria in patients with Alagille syndrome (AGS) in comparison to a group of children with cholestasis and histologically proven neonatal hepatitis (NH). ...Pruritus was a …
PURPOSE: This study was carried out to determine the frequency of clinical diagnostic criteria in patients with Alagille syndrome …
147 results