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Year Number of Results
1993 1
1998 1
1999 1
2000 2
2001 1
2004 2
2006 1
2009 1
2012 1
2016 3
2017 1
2018 2
2020 2
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Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH. Chen HL, et al. J Biomed Sci. 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. J Biomed Sci. 2018. PMID: 30367658 Free PMC article. Review.
DCDC2 is a newly identified genetic disorder causing neonatal sclerosing cholangitis. Other cholestatic genetic disorders may have extra-hepatic manifestations, such as developmental disorders causing ductal plate malformation (Alagille syndrome, polycystic l …
DCDC2 is a newly identified genetic disorder causing neonatal sclerosing cholangitis. Other cholestatic genetic disorde …
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J; University of Washington Center for Mendelian Genomics, Bull L, Thompson RJ. Grammatikopoulos T, et al. J Hepatol. 2016 Dec;65(6):1179-1187. doi: 10.1016/j.jhep.2016.07.017. Epub 2016 Jul 25. J Hepatol. 2016. PMID: 27469900 Free PMC article.
BACKGROUND & AIMS: Neonatal sclerosing cholangitis (NSC) is a severe neonatal-onset cholangiopathy commonly leading to liver transplantation (LT) for end-stage liver disease in childhood. ...LAY SUMMARY: Neonatal sclerosing cholang
BACKGROUND & AIMS: Neonatal sclerosing cholangitis (NSC) is a severe neonatal-onset cholangiopathy commonly …
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
Girard M, Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, Jeanpierre C, Henry C, Fabre M, Viremouneix L, Galmiche L, Debray D, Bole-Feysot C, Nitschke P, Pariente D, Guettier C, Lyonnet S, Heidet L, Bertholet A, Jacquemin E, Henrion-Caude A, Saunier S. Girard M, et al. Hum Mutat. 2016 Oct;37(10):1025-9. doi: 10.1002/humu.23031. Epub 2016 Aug 24. Hum Mutat. 2016. PMID: 27319779
Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified with a CLDN1 mutation, encoding a tight-junction protein. ...
Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients
[Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].
Li JQ, Lu Y, Qiu YL, Wang JS. Li JQ, et al. Zhonghua Er Ke Za Zhi. 2018 Aug 2;56(8):623-627. doi: 10.3760/cma.j.issn.0578-1310.2018.08.013. Zhonghua Er Ke Za Zhi. 2018. PMID: 30078246 Review. Chinese.
Objective: To summarize and review the clinical and genetic features of neonatal sclerosing cholangitis (NSC) caused by DCDC2 variations. ...Key words of "DCDC2" "neonatal sclerosing cholangitis" were searched in Chinese databases and Pub …
Objective: To summarize and review the clinical and genetic features of neonatal sclerosing cholangitis (NSC) caused by …
Sclerosing cholangitis in the paediatric patient.
Mieli-Vergani G, Vergani D. Mieli-Vergani G, et al. Best Pract Res Clin Gastroenterol. 2001 Aug;15(4):681-90. doi: 10.1053/bega.2001.0213. Best Pract Res Clin Gastroenterol. 2001. PMID: 11492976 Review.
Sclerosing cholangitis in childhood is a heterogeneous condition, which has different aetiologies. Sclerosing cholangitis may be inherited and diagnosed in the neonatal period (neonatal sclerosing cholangitis); it may presen
Sclerosing cholangitis in childhood is a heterogeneous condition, which has different aetiologies. Sclerosing cholan
Neonatal sclerosing cholangitis associated with autoimmune phenomena.
Bar Meir M, Hadas-Halperin I, Fisher D, Rosenmann E, Brautbar C, Branski D, Faber J, Wilschanski M. Bar Meir M, et al. J Pediatr Gastroenterol Nutr. 2000 Mar;30(3):332-4. doi: 10.1097/00005176-200003000-00024. J Pediatr Gastroenterol Nutr. 2000. PMID: 10749423 No abstract available.
Primary sclerosing cholangitis in children.
Roberts EA. Roberts EA. J Gastroenterol Hepatol. 1999 Jun;14(6):588-93. doi: 10.1046/j.1440-1746.1999.01919.x. J Gastroenterol Hepatol. 1999. PMID: 10385070 Review.
Primary sclerosing cholangitis (PSC), a chronic inflammatory process affecting the extrahepatic and/or medium to large bile ducts, is not rare in children. ...Neonatal sclerosing cholangitis is chronic inflammatory disease of bile ducts which pr …
Primary sclerosing cholangitis (PSC), a chronic inflammatory process affecting the extrahepatic and/or medium to large bile du …
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.
Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A. Hadj-Rabia S, et al. Gastroenterology. 2004 Nov;127(5):1386-90. doi: 10.1053/j.gastro.2004.07.022. Gastroenterology. 2004. PMID: 15521008
We previously assigned a syndrome associating ichthyosis and neonatal sclerosing cholangitis (NISCH syndrome) to chromosome 3q27-q28. ...
We previously assigned a syndrome associating ichthyosis and neonatal sclerosing cholangitis (NISCH syndrome) to chromo …
Neonatal sclerosing cholangitis in two siblings: a category of progressive intrahepatic cholestasis.
Baker AJ, Portmann B, Westaby D, Wilkinson M, Karani J, Mowat AP. Baker AJ, et al. J Pediatr Gastroenterol Nutr. 1993 Oct;17(3):317-22. doi: 10.1097/00005176-199310000-00016. J Pediatr Gastroenterol Nutr. 1993. PMID: 8271135 No abstract available.
Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
Lin Y, Zhang J, Li X, Zheng D, Yu X, Liu Y, Lan F, Wang Z. Lin Y, et al. Clin Res Hepatol Gastroenterol. 2020 Oct;44(5):e103-e108. doi: 10.1016/j.clinre.2020.02.015. Epub 2020 Mar 20. Clin Res Hepatol Gastroenterol. 2020. PMID: 32205117
BACKGROUND: Neonatal sclerosing cholangitis (NSC) is a severe cholestatic liver disease, which often develops into end-stage liver disease in childhood and requires liver transplantation. ...
BACKGROUND: Neonatal sclerosing cholangitis (NSC) is a severe cholestatic liver disease, which often develops into end- …
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