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

Year Number of Results
1981 1
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2000 2
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2003 2
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2013 3
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2024 0

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32 results

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Page 1
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 embryotoxon and p …
Alagille syndrome (AGS) was described more than 35 years ago as a genetic entity characterised by five major features: chronic cholestasis o …
Familial intrahepatic cholestatic syndromes.
Riely CA. Riely CA. Semin Liver Dis. 1987 May;7(2):119-33. doi: 10.1055/s-2008-1040571. Semin Liver Dis. 1987. PMID: 3303344 Review.
The assessment of any individual case remains difficult, particularly early in the course. Table 2 can serve as a guide to the differential diagnosis of these conditions. ...
The assessment of any individual case remains difficult, particularly early in the course. Table 2 can serve as a guide to the differ …
Alagille syndrome.
Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A. Shendge H, et al. Indian J Pediatr. 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701. Indian J Pediatr. 2002. PMID: 12420920 Review.
Ocular manifestations of liver disease in children: Clinical aspects and implications.
Prasad D, Bhriguvanshi A. Prasad D, et al. Ann Hepatol. 2020 Nov-Dec;19(6):608-613. doi: 10.1016/j.aohep.2019.11.009. Epub 2019 Dec 20. Ann Hepatol. 2020. PMID: 31901314 Free article. Review.
Thus, it becomes critical to identify disorders of liver and eyes early in the course of illness, so that prompt management may be initiated before the commencement of complications. It is highly advantageous in metabolic liver disorders as it offers prognostic valu …
Thus, it becomes critical to identify disorders of liver and eyes early in the course of illness, so that prompt management may be in …
Long-term follow-up of a patient with JAG1-associated retinopathy.
Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC. Cheema MR, et al. Doc Ophthalmol. 2021 Oct;143(2):237-247. doi: 10.1007/s10633-021-09836-w. Epub 2021 Apr 20. Doc Ophthalmol. 2021. PMID: 33877487
Whole-exome sequencing revealed a novel c.2412C > A p.(Tyr804Ter) truncating mutation in JAG1 that was predicted to be pathogenic and suggested a diagnosis of Alagille syndrome. ...
Whole-exome sequencing revealed a novel c.2412C > A p.(Tyr804Ter) truncating mutation in JAG1 that was predicted to be pathogenic …
A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. Edmondson AC, et al. Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777481
Living-related liver transplantation for Alagille syndrome.
Kasahara M, Kiuchi T, Inomata Y, Uryuhara K, Sakamoto S, Ito T, Fujimoto Y, Ogura Y, Oike F, Tanaka K. Kasahara M, et al. Transplantation. 2003 Jun 27;75(12):2147-50. doi: 10.1097/01.TP.0000066804.33006.17. Transplantation. 2003. PMID: 12829928
Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital.
Subramaniam P, Knisely A, Portmann B, Qureshi SA, Aclimandos WA, Karani JB, Baker AJ. Subramaniam P, et al. J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):84-9. doi: 10.1097/MPG.0b013e3181f1572d. J Pediatr Gastroenterol Nutr. 2011. PMID: 21119543
The advent of genetic diagnosis will redefine the syndrome with likely effects on the prognosis of the defined group....
The advent of genetic diagnosis will redefine the syndrome with likely effects on the prognosis of the defined group....
32 results