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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1951 1
1956 1
1958 1
1961 1
1962 2
1966 1
1968 2
1975 1
1977 1
1979 1
1980 1
1981 4
1982 3
1983 4
1984 7
1985 4
1986 6
1987 12
1988 13
1989 12
1990 18
1991 13
1992 17
1993 12
1994 17
1995 26
1996 29
1997 24
1998 27
1999 35
2000 24
2001 33
2002 34
2003 35
2004 27
2005 31
2006 24
2007 34
2008 38
2009 35
2010 40
2011 34
2012 56
2013 36
2014 40
2015 50
2016 50
2017 45
2018 58
2019 55
2020 42
2021 1
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1,039 results
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Alagille Syndrome.
Mitchell E, Gilbert M, Loomes KM. Mitchell E, et al. Clin Liver Dis. 2018 Nov;22(4):625-641. doi: 10.1016/j.cld.2018.06.001. Epub 2018 Aug 22. Clin Liver Dis. 2018. PMID: 30266153 Review.
Alagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical features. ...
Alagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical featu
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. This syndrome mainly affects the liver, causing significant cholestasis, which is caused by a paucity of intrahepa
Alagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the Notch
Alagille syndrome: pathogenesis, diagnosis and management.
Turnpenny PD, Ellard S. Turnpenny PD, et al. Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934706 Free PMC article. Review.
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of th
[Alagille Syndrome].
Wakim El-Khoury J, Venetz JP, Rutz T, Sciarra A, Unger S, Sempoux C, Moradpour D, Fraga M. Wakim El-Khoury J, et al. Rev Med Suisse. 2019 Aug 28;15(660):1506-1510. Rev Med Suisse. 2019. PMID: 31496175 Review. French.
Alagille syndrome is a rare disorder with low physician awareness. It affects multiple organs and thus patient management involves several medical specialties. ...Although the molecular basis of Alagille syndrome is well defined, no specific targeted t
Alagille syndrome is a rare disorder with low physician awareness. It affects multiple organs and thus patient management invo
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.
Andersson ER, Chivukula IV, Hankeova S, Sjöqvist M, Tsoi YL, Ramsköld D, Masek J, Elmansuri A, Hoogendoorn A, Vazquez E, Storvall H, Netušilová J, Huch M, Fischler B, Ellis E, Contreras A, Nemeth A, Chien KC, Clevers H, Sandberg R, Bryja V, Lendahl U. Andersson ER, et al. Gastroenterology. 2018 Mar;154(4):1080-1095. doi: 10.1053/j.gastro.2017.11.002. Epub 2017 Nov 21. Gastroenterology. 2018. PMID: 29162437 Free PMC article.
We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms. METHODS: Mice with a missense mutation (H268Q) in Jag1 (Jag1(+/Ndr) mice) were outbred to a C3H/C57bl6 background to generate a mouse model for Alagille syndrome (Jag …
We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms. METHODS: Mice with a missense mutation ( …
Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.
Kamath BM, Baker A, Houwen R, Todorova L, Kerkar N. Kamath BM, et al. J Pediatr Gastroenterol Nutr. 2018 Aug;67(2):148-156. doi: 10.1097/MPG.0000000000001958. J Pediatr Gastroenterol Nutr. 2018. PMID: 29543694 Free PMC article.
BACKGROUND AND AIM: Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. ...
BACKGROUND AND AIM: Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and po …
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Gilbert MA, et al. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.
Alagille syndrome is an autosomal dominant disease with a known molecular etiology of dysfunctional Notch signaling caused primarily by pathogenic variants in JAGGED1 (JAG1), but also by variants in NOTCH2. ...Combining our cohort of 86 novel JAG1 and three novel NO
Alagille syndrome is an autosomal dominant disease with a known molecular etiology of dysfunctional Notch signaling caused pri
Renal manifestations in children with Alagille syndrome.
Di Pinto D, Adragna M. Di Pinto D, et al. Arch Argent Pediatr. 2018 Apr 1;116(2):149-153. doi: 10.5546/aap.2018.eng.149. Arch Argent Pediatr. 2018. PMID: 29557611 Free article. English, Spanish.
INTRODUCTION: Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. ...
INTRODUCTION: Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associat …
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; posterior emb
Alagille syndrome (AGS) was described more than 35 years ago as a genetic entity characterised by five major features: chronic
Alagille Syndrome and Chronic Arthritis: An International Case Series.
Ferrara G, Giani T, Lieberman SM, Kremer C, Hong S, Indolfi G, Schulert G, Cron RQ, Mannion ML, Lapidus S, Armbrust W, Gonzales E, Jacquemin E, Koné-Paut I, Cimaz R. Ferrara G, et al. J Pediatr. 2020 Mar;218:228-230.e1. doi: 10.1016/j.jpeds.2019.10.042. Epub 2019 Nov 17. J Pediatr. 2020. PMID: 31748120
We describe 10 children with Alagille syndrome and inflammatory arthritis. In our centers, the prevalence of chronic arthritis in patients with Alagille syndrome is approximately 50 times higher compared with the general population. ...Patients with …
We describe 10 children with Alagille syndrome and inflammatory arthritis. In our centers, the prevalence of chronic arthritis …
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