메뉴 건너뛰기




Volumn 29, Issue 4, 2006, Pages 418-421

Allgrove syndrome. Report on a family;Syndrome d'Allgrove: À propos d'une famille

Author keywords

Achalasia; Adrenal insufficiency; Allgrove syndrome; Congenital alacrima; Triple A syndrome

Indexed keywords

ADRENAL INSUFFICIENCY; ALLGROVE SYNDROME; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CRANIAL NEUROPATHY; ESOPHAGUS ACHALASIA; HUMAN; LACRIMAL GLAND DISEASE; LACRIMAL POINT APLASIA; MOTOR NEUROPATHY; NEUROLOGIC DISEASE; PYRAMIDAL SIGN; SIBLING;

EID: 33745132677     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0181-5512(06)77702-6     Document Type: Article
Times cited : (9)

References (15)
  • 1
    • 0017845477 scopus 로고
    • Familial glucocorticoïd deficiency with achalasia of the cardia and deficient tear production
    • Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoïd deficiency with achalasia of the cardia and deficient tear production. Lancet, 1978;1:1284-6.
    • (1978) Lancet , vol.1 , pp. 1284-1286
    • Allgrove, J.1    Clayden, G.S.2    Grant, D.B.3    Macaulay, J.C.4
  • 2
    • 0032238826 scopus 로고    scopus 로고
    • Adrenocorticotropin Insensitivity Syndromes
    • Clark AJL, Weber A. Adrenocorticotropin Insensitivity Syndromes. Endocrine Reviews, 1998;19:828-43.
    • (1998) Endocrine Reviews , vol.19 , pp. 828-843
    • Clark, A.J.L.1    Weber, A.2
  • 4
    • 0028950105 scopus 로고
    • The 4 A syndrome: Adrenocortical insufficiency associated with achalasia, alacrimia, autonomic and other neurological abnormalities
    • Gazarian M, Cowell CT, Bonney M, Grigor WG. The 4 A syndrome: adrenocortical insufficiency associated with achalasia, alacrimia, autonomic and other neurological abnormalities. Eur J Pediatr, 1995;154:18-23.
    • (1995) Eur J Pediatr , vol.154 , pp. 18-23
    • Gazarian, M.1    Cowell, C.T.2    Bonney, M.3    Grigor, W.G.4
  • 5
    • 0026019711 scopus 로고
    • Allgrove syndrome: An autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrimia
    • Moore PSJ, Couch RM, Perry YS, Shuckett EP, Winter JSD. Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrimia. Clin Endocrinol, 1991;34:107-14.
    • (1991) Clin Endocrinol , vol.34 , pp. 107-114
    • Moore, P.S.J.1    Couch, R.M.2    Perry, Y.S.3    Shuckett, E.P.4    Winter, J.S.D.5
  • 7
    • 0036896407 scopus 로고    scopus 로고
    • Clinical and genetic characterization of families with triple A (Allgrove) syndrome
    • Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain, 2002;125:2681-90.
    • (2002) Brain , vol.125 , pp. 2681-2690
    • Houlden, H.1    Smith, S.2    De Carvalho, M.3    Blake, J.4    Mathias, C.5    Wood, N.W.6
  • 8
    • 0029827345 scopus 로고    scopus 로고
    • Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster
    • Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet, 1996;5:2061-6.
    • (1996) Hum Mol Genet , vol.5 , pp. 2061-2066
    • Weber, A.1    Wienker, T.F.2    Jung, M.3    Easton, D.4    Dean, H.J.5    Heinrichs, C.6
  • 9
    • 0038299041 scopus 로고    scopus 로고
    • Allgrove or 4 "A" syndrome: An autosomal recessive syndrome causing multisystem neurological disease
    • Kimber J, McLean BN, Prevett M, Hammans SR. Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry, 2003;74:654-7.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , pp. 654-657
    • Kimber, J.1    McLean, B.N.2    Prevett, M.3    Hammans, S.R.4
  • 11
    • 0037947770 scopus 로고    scopus 로고
    • The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome
    • USA
    • Cronshaw JM, Matunis MJ. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA, 2003;100:5823-7.
    • (2003) Proc Natl Acad Sci , vol.100 , pp. 5823-5827
    • Cronshaw, J.M.1    Matunis, M.J.2
  • 12
    • 0033870093 scopus 로고    scopus 로고
    • Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome
    • Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, de Laet MH et al. Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome. Eur J Hum Genet, 2000;8:613-20.
    • (2000) Eur J Hum Genet , vol.8 , pp. 613-620
    • Hadj-Rabia, S.1    Salomon, R.2    Pelet, A.3    Penet, C.4    Rotschild, A.5    De Laet, M.H.6
  • 13
    • 17944382121 scopus 로고    scopus 로고
    • Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotrophin
    • Sandrini F, Farmakidis C, Kirschner LS, Wu S-M, Tullio-Pelet A, Lyonnet S et al. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotrophin. J Clin Endocrinol Metab, 2001;86:5433-7.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5433-5437
    • Sandrini, F.1    Farmakidis, C.2    Kirschner, L.S.3    Wu, S.-M.4    Tullio-Pelet, A.5    Lyonnet, S.6
  • 14
    • 0033787383 scopus 로고    scopus 로고
    • High-Resolution Transcript Map of the Region Spanning D12S1629 and D12S312 at Chromosome 12q13: Triple A Syndrome-Linked Region
    • Lee H, Choi E, Seomun Y, Montgomery K, Huebner A, Lee E et al. High-Resolution Transcript Map of the Region Spanning D12S1629 and D12S312 at Chromosome 12q13: Triple A Syndrome-Linked Region. Genome research, 2000;10:1561-7.
    • (2000) Genome Research , vol.10 , pp. 1561-1567
    • Lee, H.1    Choi, E.2    Seomun, Y.3    Montgomery, K.4    Huebner, A.5    Lee, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.