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Volumn 29, Issue 2, 2003, Pages 157-159

Septo-optic dysplasia with congenital hepatic fibrosis

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL INSUFFICIENCY; AGENESIS; ARTICLE; BILE DUCT; CASE REPORT; CHOLESTASIS; CLINICAL FEATURE; CONGENITAL DISORDER; DIABETES INSIPIDUS; DISEASE ASSOCIATION; ENDOCRINE FUNCTION; FEMALE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HOMEOBOX; HORMONE DETERMINATION; HUMAN; HUMAN TISSUE; HYPOPHYSIS; HYPOTHYROIDISM; INFORMED CONSENT; LABORATORY TEST; LIVER BIOPSY; LIVER FIBROSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPHTHALMOSCOPY; OPTIC NERVE HYPOPLASIA; PERCUTANEOUS BIOPSY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SEPTOOPTIC DYSPLASIA; SEPTUM PELLUCIDUM; SERODIAGNOSIS;

EID: 0142155122     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(03)00147-4     Document Type: Article
Times cited : (11)

References (17)
  • 1
    • 77049256915 scopus 로고
    • Etudes sur les dystrophies cranioencephaliques: Agenesie du septum lucidum avec malformation du tractus optique: La dysplasie septo-optique
    • de Morsier G. Etudes sur les dystrophies cranioencephaliques Agenesie du septum lucidum avec malformation du tractus optique: La dysplasie septo-optique . Schweiz Arch Neurol Neurochir Psychiatr. 77:1956;267-292.
    • (1956) Schweiz Arch Neurol Neurochir Psychiatr , vol.77 , pp. 267-292
    • De Morsier, G.1
  • 2
    • 0014961838 scopus 로고
    • Septo-optic dysplasia and pituitary dwarfism
    • Hoyt W.F., Kaplan S.L., Grumbach M.M., et al. Septo-optic dysplasia and pituitary dwarfism. Lancet. 1:1970;893-894.
    • (1970) Lancet , vol.1 , pp. 893-894
    • Hoyt, W.F.1    Kaplan, S.L.2    Grumbach, M.M.3
  • 3
    • 0022541203 scopus 로고
    • Syndrome of septo-optic-pituitary dysplasia: The clinical spectrum
    • Morishima A., Aranoff G.S. Syndrome of septo-optic-pituitary dysplasia The clinical spectrum . Brain Dev. 8:1986;233-239.
    • (1986) Brain Dev , vol.8 , pp. 233-239
    • Morishima, A.1    Aranoff, G.S.2
  • 5
  • 6
    • 0021954767 scopus 로고
    • Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia: Review of 16 cases
    • Margalith D., Jun Tze W., Jan J.E. Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia Review of 16 cases . Am J Dis Child. 139:1985;361-366.
    • (1985) Am J Dis Child , vol.139 , pp. 361-366
    • Margalith, D.1    Jun Tze, W.2    Jan, J.E.3
  • 7
    • 0028908976 scopus 로고
    • Sequence, genomic organization, and expression of the novel homeobox gene Hesx1
    • Thomas P.Q., Johnson B.V., Rathjen J., et al. Sequence, genomic organization, and expression of the novel homeobox gene Hesx1. J Biol Chem. 270:1995;3869-3875.
    • (1995) J Biol Chem , vol.270 , pp. 3869-3875
    • Thomas, P.Q.1    Johnson, B.V.2    Rathjen, J.3
  • 8
    • 0142231629 scopus 로고    scopus 로고
    • Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo
    • Thomas P., Beddington R.S.P. Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo. Curr Biol. 35:1998;248-250.
    • (1998) Curr Biol , vol.35 , pp. 248-250
    • Thomas, P.1    Beddington, R.S.P.2
  • 9
    • 17344362762 scopus 로고    scopus 로고
    • Mutation in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
    • Dattani M.T., Martinez-Barbera J.P., Thomas P.Q., et al. Mutation in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 19:1998;125-133.
    • (1998) Nat Genet , vol.19 , pp. 125-133
    • Dattani, M.T.1    Martinez-Barbera, J.P.2    Thomas, P.Q.3
  • 10
    • 0035165103 scopus 로고    scopus 로고
    • Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
    • Thomas P.Q., Dattani M.T., Brickman J.M., et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 10:2001;39-45.
    • (2001) Hum Mol Genet , vol.10 , pp. 39-45
    • Thomas, P.Q.1    Dattani, M.T.2    Brickman, J.M.3
  • 12
    • 0002098240 scopus 로고
    • Lesion resembling medullary sponge kidney in patients with congenital hepatic fibrosis
    • Kerr D.N.S., Warrick C.K., Hant-Mercer J.A. Lesion resembling medullary sponge kidney in patients with congenital hepatic fibrosis. Clin Radiol. 13:1962;85-91.
    • (1962) Clin Radiol , vol.13 , pp. 85-91
    • Kerr, D.N.S.1    Warrick, C.K.2    Hant-Mercer, J.A.3
  • 13
    • 0023225624 scopus 로고
    • Septo-optic dysplasia: Recognition of causes of false-positive hepatobiliary scintigraphy in neonatal jaundice
    • Kimura D., Miller J.H., Sinatra F.R. Septo-optic dysplasia Recognition of causes of false-positive hepatobiliary scintigraphy in neonatal jaundice . J Nucl Med. 28:1987;966-972.
    • (1987) J Nucl Med , vol.28 , pp. 966-972
    • Kimura, D.1    Miller, J.H.2    Sinatra, F.R.3
  • 14
    • 0021173202 scopus 로고
    • Neonatal cholestasis and hypopituitarism
    • Kaufman F.R., Costin G., Thomas D.W., et al. Neonatal cholestasis and hypopituitarism. Arch Dis Child. 59:1984;787-789.
    • (1984) Arch Dis Child , vol.59 , pp. 787-789
    • Kaufman, F.R.1    Costin, G.2    Thomas, D.W.3
  • 15
    • 0021123918 scopus 로고
    • Septo-optic pituitary dysplasia: Observations on three patients
    • Kewitz G., Girard J., Probst A., et al. Septo-optic pituitary dysplasia Observations on three patients . Helv Paediatr Acta. 39:1984;355-364.
    • (1984) Helv Paediatr Acta , vol.39 , pp. 355-364
    • Kewitz, G.1    Girard, J.2    Probst, A.3
  • 16
    • 0030019873 scopus 로고    scopus 로고
    • Endocrine disorders in septo-optic dysplasia (De Morsier syndrome): Evaluation and follow-up of 18 patients
    • Willnow S., Kiess W., Butenandt O., et al. Endocrine disorders in septo-optic dysplasia (De Morsier syndrome) Evaluation and follow-up of 18 patients . Eur J Pediatr. 155:1996;179-184.
    • (1996) Eur J Pediatr , vol.155 , pp. 179-184
    • Willnow, S.1    Kiess, W.2    Butenandt, O.3
  • 17
    • 0015607346 scopus 로고
    • Congenital hepatic fibrosis: Is it a single clinical entity?
    • Murray-Lyon I.M., Ockenden B.G., Williams R. Congenital hepatic fibrosis Is it a single clinical entity? Gastroenterology. 64:1973;653-656.
    • (1973) Gastroenterology , vol.64 , pp. 653-656
    • Murray-Lyon, I.M.1    Ockenden, B.G.2    Williams, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.