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Volumn 112, Issue 2, 2002, Pages 163-170

Facial features in Alagille syndrome: Specific or cholestasis facies?

Author keywords

Alagille syndrome; Cholestasis; Dysmorphology; Facies; Jagged1

Indexed keywords

ADOLESCENT; ADULT; ALAGILLE SYNDROME; ANIMAL TISSUE; ARTICLE; CHILD; CHOLESTASIS; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; EMBRYO; FACIES; FEMALE; GENE; HUMAN; IN SITU HYBRIDIZATION; JAGGED1 GENE; MALE; MOUSE; NEWBORN; NONHUMAN; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 0036808212     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10579     Document Type: Article
Times cited : (90)

References (18)
  • 1
    • 0016439420 scopus 로고
    • Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur
    • Alagille D, Odievre M, Gautier M, Dommergues JP. 1975. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 86:63-71.
    • (1975) J Pediatr , vol.86 , pp. 63-71
    • Alagille, D.1    Odievre, M.2    Gautier, M.3    Dommergues, J.P.4
  • 6
    • 0033835522 scopus 로고    scopus 로고
    • Jagged1 expression in human embryos: Correlation with the Alagille syndrome phenotype
    • Jones EA, Clement-Jones M, Wilson DI. 2000. Jagged1 expression in human embryos: Correlation with the Alagille syndrome phenotype. J Med Genet 37:663-668.
    • (2000) J Med Genet , vol.37 , pp. 663-668
    • Jones, E.A.1    Clement-Jones, M.2    Wilson, D.I.3
  • 7
    • 0027228080 scopus 로고
    • Hepatocellular carcinoma in arteriohepatic dysplasia
    • Keeffe EB, Pinson CW, Ragsdale J, Zonana J. 1993. Hepatocellular carcinoma in arteriohepatic dysplasia. AMJ Genet 88:1446-1449.
    • (1993) AMJ Genet , vol.88 , pp. 1446-1449
    • Keeffe, E.B.1    Pinson, C.W.2    Ragsdale, J.3    Zonana, J.4
  • 8
    • 0032756620 scopus 로고    scopus 로고
    • Clinical and molecular genetics of Alagille syndrome
    • Krantz ID, Piccoli DA, Spinner NB. 1999a. Clinical and molecular genetics of Alagille syndrome. Curr Op Pediatr 11:558-564.
    • (1999) Curr Op Pediatr , vol.11 , pp. 558-564
    • Krantz, I.D.1    Piccoli, D.A.2    Spinner, N.B.3
  • 12
    • 0023636637 scopus 로고
    • The Alagille syndrome (arteriohepatic dysplasia)
    • Mueller RF. 1987. The Alagille syndrome (arteriohepatic dysplasia). J Med Genet 24:621-626.
    • (1987) J Med Genet , vol.24 , pp. 621-626
    • Mueller, R.F.1
  • 13
    • 0017225391 scopus 로고
    • Recurrence risks in children having one parent with a congenital heart disease
    • Nora JJ, Nora AH. 1976. Recurrence risks in children having one parent with a congenital heart disease. Circulation 53:701-702.
    • (1976) Circulation , vol.53 , pp. 701-702
    • Nora, J.J.1    Nora, A.H.2
  • 14
    • 0027310879 scopus 로고
    • Whole-mount in situ hybridization in the mouse embryo: Gene expression in three dimensions
    • Rosen B, Beddington RSP. 1993. Whole-mount in situ hybridization in the mouse embryo: Gene expression in three dimensions. Trends Genet 9:162-167.
    • (1993) Trends Genet , vol.9 , pp. 162-167
    • Rosen, B.1    Beddington, R.S.P.2
  • 15
    • 0027501673 scopus 로고
    • Detection of messenger RNA by in situ hybridization
    • Wassarman PM, DePamphilis ML, editors. London: Academic Press
    • Sassoon D, Rosenthal N. 1993. Detection of messenger RNA by in situ hybridization. In: Wassarman PM, DePamphilis ML, editors. Methods in Enzymology. London: Academic Press. p 384-406.
    • (1993) Methods in Enzymology , pp. 384-406
    • Sassoon, D.1    Rosenthal, N.2
  • 16
    • 0020508450 scopus 로고
    • Intrahepatic "cholestasis facies": Is it specific for Alagille syndrome?
    • Sokol RJ, Heubi JE, Balistreri WF. 1983. Intrahepatic "cholestasis facies": Is it specific for Alagille syndrome? J Pediatr 103:205-208.
    • (1983) J Pediatr , vol.103 , pp. 205-208
    • Sokol, R.J.1    Heubi, J.E.2    Balistreri, W.F.3
  • 17
    • 0028128735 scopus 로고
    • Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular studies
    • Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA. 1994. Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular studies. Am J Hum Genet 55:238-243.
    • (1994) Am J Hum Genet , vol.55 , pp. 238-243
    • Spinner, N.B.1    Rand, E.B.2    Fortina, P.3    Genin, A.4    Taub, R.5    Semeraro, A.6    Piccoli, D.A.7
  • 18
    • 0027445532 scopus 로고
    • Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts
    • Wassarman PM, DePamphilis ML, editors. London: Academic Press
    • Wilkinson DG, Nieto MA. 1993. Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts. In: Wassarman PM, DePamphilis ML, editors. Methods in Enzymology. London: Academic Press. p 361-372.
    • (1993) Methods in Enzymology , pp. 361-372
    • Wilkinson, D.G.1    Nieto, M.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.