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Quoted phrase not found in phrase index: "Renal-hepatic-pancreatic dysplasia 1"
Page 1
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM. Fiskerstrand T, et al. J Mol Diagn. 2010 Jan;12(1):125-31. doi: 10.2353/jmoldx.2010.090033. Epub 2009 Dec 10. J Mol Diagn. 2010. PMID: 20007846 Free PMC article.
Additional features observed were ductal plate malformation in the liver, dysplasia of the pancreas, and (in one individual) complete situs inversus and polymicrogyria of the cingulate gyri. The autopsy findings were compatible with renal-hepatic-pancreatic …
Additional features observed were ductal plate malformation in the liver, dysplasia of the pancreas, and (in one individual) complete situs …
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.
Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE. Bernstein J, et al. Am J Med Genet. 1987 Feb;26(2):391-403. doi: 10.1002/ajmg.1320260218. Am J Med Genet. 1987. PMID: 3812591
Serial liver biopsies in one child with cholestasis from birth showed a progression from bile duct paucity at 1 1/2 wk to typical biliary "dysgenesis" at 7 mo. Four of the five children had intrahepatic ductal dilatation, diagnosed ante mortem in the two older child …
Serial liver biopsies in one child with cholestasis from birth showed a progression from bile duct paucity at 1 1/2 wk to typi …
Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder.
Kapur RP, Cole B, Zhang M, Lin J, Fligner CL. Kapur RP, et al. Pediatr Dev Pathol. 2013 May-Jun;16(3):191-200. doi: 10.2350/12-12-1281-OA.1. Epub 2013 Feb 25. Pediatr Dev Pathol. 2013. PMID: 23438674
Uniparental disomy also poses a theoretical risk for paternally transmitted autosomal recessive disorders, if both chromosomes of each autosomal pair are identical (isodisomy). We present the 1st example of a recessive disorder, renal-hepatic-pancreatic dy …
Uniparental disomy also poses a theoretical risk for paternally transmitted autosomal recessive disorders, if both chromosomes of each autos …
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C. Frank V, et al. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418306