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Volumn 112, Issue 1, 2004, Pages 62-67

A Case of Kallmann Syndrome Associated with Dandy-Walker Malformation

Author keywords

Dandy Walker malformation; KAL1; Kallmann syndrome

Indexed keywords

FOLLITROPIN; GONADORELIN; LUTEINIZING HORMONE;

EID: 1242295140     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-815728     Document Type: Article
Times cited : (11)

References (52)
  • 1
    • 0024955409 scopus 로고
    • Dandy-Walker syndrome: Experience at the Hospital for Sick Children, Toronto
    • Asai A, Hoffman HJ, Hendrick EB, Humphreys RP. Dandy-Walker syndrome: experience at the Hospital for Sick Children, Toronto. Pediatr Neurosci 1989; 15: 66-73
    • (1989) Pediatr Neurosci , vol.15 , pp. 66-73
    • Asai, A.1    Hoffman, H.J.2    Hendrick, E.B.3    Humphreys, R.P.4
  • 2
    • 0002846346 scopus 로고
    • Kallmann syndrome
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York: McGraw-Hill
    • Ballabio A, Zoghbi HY. Kallmann syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. Vol. 3. New York: McGraw-Hill, 1995: 4549-4557
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , vol.3 , pp. 4549-4557
    • Ballabio, A.1    Zoghbi, H.Y.2
  • 4
    • 0017828707 scopus 로고
    • Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers
    • Conrad B, Kriebel J, Hetzel WD. Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers. J Neurol 1978; 218: 263-274
    • (1978) J Neurol , vol.218 , pp. 263-274
    • Conrad, B.1    Kriebel, J.2    Hetzel, W.D.3
  • 5
    • 0028999194 scopus 로고
    • Kallmann syndrome and delayed puberty associated with agenesis of lateral maxillary incisors
    • de Zegher F, Lagae L, Declerck D, Vinckier F. Kallmann syndrome and delayed puberty associated with agenesis of lateral maxillary incisors. J Craniofac Genet Dev Biol 1995; 15: 87-89
    • (1995) J Craniofac Genet Dev Biol , vol.15 , pp. 87-89
    • De Zegher, F.1    Lagae, L.2    Declerck, D.3    Vinckier, F.4
  • 6
    • 0025105247 scopus 로고
    • Isolated hypogonadotropic hypogonadism: A family with autosomal dominant inheritance
    • Dean JC, Johnston AW, Klopper AI. Isolated hypogonadotropic hypogonadism: a family with autosomal dominant inheritance. Clin Endocrinol 1990; 32: 341-347
    • (1990) Clin Endocrinol , vol.32 , pp. 341-347
    • Dean, J.C.1    Johnston, A.W.2    Klopper, A.I.3
  • 7
    • 0027021440 scopus 로고
    • Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome
    • del Castillo I, Cohen-Salmon M, Blanchard S, Lutfalla G, Petit C. Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. Nat Genet 1992; 2: 305-310
    • (1992) Nat Genet , vol.2 , pp. 305-310
    • Del Castillo, I.1    Cohen-Salmon, M.2    Blanchard, S.3    Lutfalla, G.4    Petit, C.5
  • 8
    • 0015908059 scopus 로고
    • Dandy-Walker syndrome: An evaluation of surgical treatment
    • Fischer EG. Dandy-Walker syndrome: an evaluation of surgical treatment. J Neurosurg 1973; 39: 615-621
    • (1973) J Neurosurg , vol.39 , pp. 615-621
    • Fischer, E.G.1
  • 10
    • 0016808783 scopus 로고
    • The Dandy-Walker and Arnold-Chiari malformations. Clinical, developmental, and teratological considerations
    • Gardner E, O'Rahilly R, Prolo D. The Dandy-Walker and Arnold-Chiari malformations. Clinical, developmental, and teratological considerations. Arch Neurol 1975; 32: 393-407
    • (1975) Arch Neurol , vol.32 , pp. 393-407
    • Gardner, E.1    O'Rahilly, R.2    Prolo, D.3
  • 11
    • 0031016660 scopus 로고    scopus 로고
    • Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
    • Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF Jr, Vallejo M. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab 1997; 82: 213-217
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 213-217
    • Georgopoulos, N.A.1    Pralong, F.P.2    Seidman, C.E.3    Seidman, J.G.4    Crowley Jr., W.F.5    Vallejo, M.6
  • 12
    • 0031737816 scopus 로고    scopus 로고
    • A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome
    • Gu WX, Colquhoun-Kerr JS, Kopp P, Bode HH, Jameson JL. A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome. Mol Genet Metab 1998; 65: 59-61
    • (1998) Mol Genet Metab , vol.65 , pp. 59-61
    • Gu, W.X.1    Colquhoun-Kerr, J.S.2    Kopp, P.3    Bode, H.H.4    Jameson, J.L.5
  • 16
    • 0035919202 scopus 로고    scopus 로고
    • Kallmann syndrome: Towards molecular pathogenesis
    • Hardelin JP. Kallmann syndrome: towards molecular pathogenesis. Mol Cell Endocrinol 2001; 179: 75-81
    • (2001) Mol Cell Endocrinol , vol.179 , pp. 75-81
    • Hardelin, J.P.1
  • 17
    • 0015385098 scopus 로고
    • The Dandy-Walker syndrome. A clinicopathological study based on 28 cases
    • Hart MN, Malamud N, Ellis WG. The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. Neurology 1972; 22: 771-780
    • (1972) Neurology , vol.22 , pp. 771-780
    • Hart, M.N.1    Malamud, N.2    Ellis, W.G.3
  • 18
    • 0022256144 scopus 로고
    • Heterogeneity of Kallmann's syndrome
    • Hermanussen M, Sippell WG. Heterogeneity of Kallmann's syndrome. Clin Genet 1985; 28: 106-111
    • (1985) Clin Genet , vol.28 , pp. 106-111
    • Hermanussen, M.1    Sippell, W.G.2
  • 19
    • 0026631044 scopus 로고
    • Audiological, vestibular and radiological abnormalities in Kallman's syndrome
    • Hill J, Elliott C, Colquhoun I. Audiological, vestibular and radiological abnormalities in Kallman's syndrome. J Laryngol Otol 1992; 106: 530-534
    • (1992) J Laryngol Otol , vol.106 , pp. 530-534
    • Hill, J.1    Elliott, C.2    Colquhoun, I.3
  • 24
    • 0018376818 scopus 로고
    • Problems of diagnosis and treatment in the Dandy-Walker syndrome
    • James HE, Kaiser G, Schut L, Bruce DA. Problems of diagnosis and treatment in the Dandy-Walker syndrome. Childs Brain 1979; 5: 24-30
    • (1979) Childs Brain , vol.5 , pp. 24-30
    • James, H.E.1    Kaiser, G.2    Schut, L.3    Bruce, D.A.4
  • 25
    • 0017278213 scopus 로고
    • Olfacto-genital dysplasia in the female
    • Jones J, Kemmann E. Olfacto-genital dysplasia in the female. Obstet Gynecol Annu 1976; 5: 443-445
    • (1976) Obstet Gynecol Annu , vol.5 , pp. 443-445
    • Jones, J.1    Kemmann, E.2
  • 26
    • 0017318741 scopus 로고
    • Problems of diagnosis and treatment in the Dandy-Walker syndrome
    • Kaiser G, Schut L, James HE, Bruce DA. Problems of diagnosis and treatment in the Dandy-Walker syndrome. Mod Probl Paediatr 1976; 18: 123-4
    • (1976) Mod Probl Paediatr , vol.18 , pp. 123-124
    • Kaiser, G.1    Schut, L.2    James, H.E.3    Bruce, D.A.4
  • 28
    • 0025340937 scopus 로고
    • Abnormalities in visual spatial attention in men with mirror movements associated with isolated hypogonadotropic hypogonadism
    • Kertzman C, Robinson DL, Sherins RJ, Schwankhaus JD, McClurkin JW. Abnormalities in visual spatial attention in men with mirror movements associated with isolated hypogonadotropic hypogonadism. Neurology 1990; 40: 1057-1063
    • (1990) Neurology , vol.40 , pp. 1057-1063
    • Kertzman, C.1    Robinson, D.L.2    Sherins, R.J.3    Schwankhaus, J.D.4    McClurkin, J.W.5
  • 30
    • 0035014944 scopus 로고    scopus 로고
    • Dandy-Walker syndrome: Different modalities of treatment and outcome in 42 cases
    • Kumar R, Jain MK, Chhabra DK. Dandy-Walker syndrome: different modalities of treatment and outcome in 42 cases. Childs Nerv Syst 2001; 17: 348-352
    • (2001) Childs Nerv Syst , vol.17 , pp. 348-352
    • Kumar, R.1    Jain, M.K.2    Chhabra, D.K.3
  • 32
    • 0019932123 scopus 로고
    • Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): Clinical and laboratory studies in 23 cases
    • Lieblich JM, Rogol AD, White BJ, Rosen SW. Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases. Am J Med 1982; 73: 506-519
    • (1982) Am J Med , vol.73 , pp. 506-519
    • Lieblich, J.M.1    Rogol, A.D.2    White, B.J.3    Rosen, S.W.4
  • 35
    • 0031839020 scopus 로고    scopus 로고
    • Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene
    • Maya-Nunez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez JP. Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. Clin Endocrinol 1998 b; 48: 713-718
    • (1998) Clin Endocrinol , vol.48 , pp. 713-718
    • Maya-Nunez, G.1    Cuevas-Covarrubias, S.2    Zenteno, J.C.3    Ulloa-Aguirre, A.4    Kofman-Alfaro, S.5    Mendez, J.P.6
  • 36
  • 37
    • 0015222095 scopus 로고
    • Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men
    • Naftolin F, Harris GW, Bobrow M. Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men. Nature 1971; 232: 496-7
    • (1971) Nature , vol.232 , pp. 496-497
    • Naftolin, F.1    Harris, G.W.2    Bobrow, M.3
  • 38
    • 0035012757 scopus 로고    scopus 로고
    • Dandy-Walker syndrome: Incidence in a defined population of Tabuk, Saudi Arabia
    • Ohaegbulam SC, Afifi H. Dandy-Walker syndrome: incidence in a defined population of Tabuk, Saudi Arabia. Neuroepidemiology 2001; 20: 150-152
    • (2001) Neuroepidemiology , vol.20 , pp. 150-152
    • Ohaegbulam, S.C.1    Afifi, H.2
  • 43
    • 0027278607 scopus 로고
    • Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
    • Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A, Eichele G. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet 1993; 4: 19-26
    • (1993) Nat Genet , vol.4 , pp. 19-26
    • Rugarli, E.I.1    Lutz, B.2    Kuratani, S.C.3    Wawersik, S.4    Borsani, G.5    Ballabio, A.6    Eichele, G.7
  • 44
    • 0029797416 scopus 로고    scopus 로고
    • The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component
    • Rugarli EI, Ghezzi C, Valsecchi V, Ballabio A. The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Hum Mol Genet 1996; 5: 1109-1115
    • (1996) Hum Mol Genet , vol.5 , pp. 1109-1115
    • Rugarli, E.I.1    Ghezzi, C.2    Valsecchi, V.3    Ballabio, A.4
  • 45
    • 0019513049 scopus 로고
    • Dandy-Walker syndrome. Clinical analysis of 23 cases
    • Sawaya R, McLaurin RL. Dandy-Walker syndrome. Clinical analysis of 23 cases. J Neurosurg 1981; 55: 89-98
    • (1981) J Neurosurg , vol.55 , pp. 89-98
    • Sawaya, R.1    McLaurin, R.L.2
  • 51
    • 0020554722 scopus 로고
    • The syndrome of anosmia with hypogonadotropic hypogonadism: A genetic study of 18 new families and a review
    • White BJ, Rogol AD, Brown KS, Lieblich JM, Rosen SW. The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. Am J Med Genet 1983; 15: 417-435
    • (1983) Am J Med Genet , vol.15 , pp. 417-435
    • White, B.J.1    Rogol, A.D.2    Brown, K.S.3    Lieblich, J.M.4    Rosen, S.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.