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Items: 16

1.

[Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].

Li JQ, Lu Y, Qiu YL, Wang JS.

Zhonghua Er Ke Za Zhi. 2018 Aug 2;56(8):623-627. doi: 10.3760/cma.j.issn.0578-1310.2018.08.013. Chinese.

PMID:
30078246
2.

[NISCH syndrome, a rare cause of neonatal cholestasis: A case report].

Szepetowski S, Lacoste C, Mallet S, Roquelaure B, Badens C, Fabre A.

Arch Pediatr. 2017 Dec;24(12):1228-1234. doi: 10.1016/j.arcped.2017.09.016. Epub 2017 Nov 13. French.

PMID:
29146216
3.

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.

J Hepatol. 2016 Dec;65(6):1179-1187. doi: 10.1016/j.jhep.2016.07.017. Epub 2016 Jul 25.

4.

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.

Hum Mutat. 2016 Oct;37(10):1025-9. doi: 10.1002/humu.23031. Epub 2016 Aug 24.

PMID:
27319779
5.

Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.

Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U.

J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044.

PMID:
26628447
6.

Follicular carcinoma of thyroid following successful liver transplantation--a report.

Dantuluri S, Urs A, Karthik SV.

Pediatr Transplant. 2012 Dec;16(8):E372-4. doi: 10.1111/j.1399-3046.2012.01736.x. Epub 2012 Jun 5.

PMID:
22672149
7.

Selective use of endoscopic retrograde cholangiopancreatography in the diagnosis of biliary atresia in infants younger than 100 days.

Shanmugam NP, Harrison PM, Devlin J, Peddu P, Knisely AS, Davenport M, Hadzić N.

J Pediatr Gastroenterol Nutr. 2009 Oct;49(4):435-41. doi: 10.1097/MPG.0b013e3181a8711f.

PMID:
19680152
8.

Segmental liver transplantation from non-heart beating donors--an early experience with implications for the future.

Muiesan P, Jassem W, Girlanda R, Steinberg R, Vilca-Melendez H, Mieli-Vergani G, Dhawan A, Rela M, Heaton N.

Am J Transplant. 2006 May;6(5 Pt 1):1012-6.

9.

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.

Gastroenterology. 2004 Nov;127(5):1386-90. Erratum in: Gastroenterology. 2005 Feb;128(2):524.

PMID:
15521008
10.

Hepatic fibrosis in Kabuki syndrome.

Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC.

Am J Med Genet A. 2004 Jan 15;124A(2):209-12.

PMID:
14699623
11.

Sclerosing cholangitis in the paediatric patient.

Mieli-Vergani G, Vergani D.

Best Pract Res Clin Gastroenterol. 2001 Aug;15(4):681-90. Review.

PMID:
11492976
12.

[Congenital disorders of the biliary ducts].

Gauthier F, Hadchouel M.

Rev Prat. 2000 Dec 1;50(19):2142-5. French.

PMID:
11213458
13.

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.

J Pediatr Gastroenterol Nutr. 2000 Mar;30(3):332-4. No abstract available.

PMID:
10749423
14.

Primary sclerosing cholangitis in children.

Roberts EA.

J Gastroenterol Hepatol. 1999 Jun;14(6):588-93. Review.

PMID:
10385070
15.

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M.

Am J Med Genet. 1998 Dec 4;80(4):362-7.

PMID:
9856564
16.

Neonatal sclerosing cholangitis in two siblings: a category of progressive intrahepatic cholestasis.

Baker AJ, Portmann B, Westaby D, Wilkinson M, Karani J, Mowat AP.

J Pediatr Gastroenterol Nutr. 1993 Oct;17(3):317-22. No abstract available.

PMID:
8271135

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