-
1
-
-
0017845477
-
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
-
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
-
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
-
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
-
6
-
-
0042131835
-
Triple A syndrome: Genotype-phenotype assessment
-
Prpic I, Huebner A, Persic M, Handschug K, Pavletic M. Triple A syndrome: genotype-phenotype assessment. Clin Genet, 2003;63:415-7.
-
(2003)
Clin Genet
, vol.63
, pp. 415-417
-
-
Prpic, I.1
Huebner, A.2
Persic, M.3
Handschug, K.4
Pavletic, M.5
-
7
-
-
0036896407
-
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
-
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
-
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
-
10
-
-
0035140120
-
Allgrove syndrome in adulthood
-
Bentes C, Santos-Bento M, de Sá J, de Lurdes Sales Luís M, de Carvalho M. Allgrove syndrome in adulthood. Muscle Nerve, 2001;24:292-6.
-
(2001)
Muscle Nerve
, vol.24
, pp. 292-296
-
-
Bentes, C.1
Santos-Bento, M.2
De Sá, J.3
De Lurdes Sales Luís, M.4
De Carvalho, M.5
-
11
-
-
0037947770
-
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
-
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
-
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
-
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
-
15
-
-
0035253397
-
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
-
Handschug K, Sperling S, Yoon S-J K, Hennig S, Clark AJL, Huebner A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet, 2001;10:283-90.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 283-290
-
-
Handschug, K.1
Sperling, S.2
Yoon, S.-J.K.3
Hennig, S.4
Clark, A.J.L.5
Huebner, A.6
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