-
1
-
-
0017845477
-
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
-
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Allgrove J, Clayden GS, Grant DB, Macaulay JC, Lancet 1978 1 1284 1286 78049 (Pubitemid 8363526)
-
(1978)
Lancet
, vol.1
, Issue.8077
, pp. 1284-1286
-
-
Allgrove, J.1
Clayden, G.S.2
Grant, D.B.3
Macaulay, J.C.4
-
2
-
-
0029827345
-
Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster
-
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, et al. Hum Mol Genet 1996 5 2061 2066 10.1093/hmg/5.12.2061 8968764 (Pubitemid 26413655)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.12
, pp. 2061-2066
-
-
Weber, A.1
Wienker, T.F.2
Jung, M.3
Easton, D.4
Dean, H.J.5
Heinrichs, C.6
Reis, A.7
Clark, A.J.L.8
-
3
-
-
0033763096
-
Mutant WD-repeat protein in triple A syndrome
-
10.1038/81642 11062474
-
Mutant WD-repeat protein in triple A syndrome. Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, De Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S, Nat Genet 2000 26 332 335 10.1038/81642 11062474
-
(2000)
Nat Genet
, vol.26
, pp. 332-335
-
-
Tullio-Pelet, A.1
Salomon, R.2
Hadj-Rabia, S.3
Mugnier, C.4
De Laet, M.H.5
Chaouachi, B.6
Bakiri, F.7
Brottier, P.8
Cattolico, L.9
Penet, C.10
Bégeot, M.11
Naville, D.12
Nicolino, M.13
Chaussain, J.L.14
Weissenbach, J.15
Munnich, A.16
Lyonnet, S.17
-
4
-
-
0035253397
-
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
-
10.1093/hmg/10.3.283 11159947
-
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A, Hum Mol Genet 2001 10 283 390 10.1093/hmg/10.3.283 11159947
-
(2001)
Hum Mol Genet
, vol.10
, pp. 283-390
-
-
Handschug, K.1
Sperling, S.2
Yoon, S.J.3
Hennig, S.4
Clark, A.J.5
Huebner, A.6
-
5
-
-
0028076764
-
The ancient regulatory-protein family of WD-repeat proteins
-
DOI 10.1038/371297a0
-
The ancient regulatory-protein family of WD-repeat proteins. Neer EJ, Schmidt CJ, Nambudripad R, Smith TF, Nature 1994 371 297 300 10.1038/371297a0 8090199 (Pubitemid 24300613)
-
(1994)
Nature
, vol.371
, Issue.6495
, pp. 297-300
-
-
Neer, E.J.1
Schmidt, C.J.2
Nambudripad, R.3
Smith, T.F.4
-
7
-
-
11244262589
-
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
-
DOI 10.1081/ERC-200044138
-
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K, Endocr Res 2004 30 891 899 10.1081/ERC-200044138 15666842 (Pubitemid 40070190)
-
(2004)
Endocrine Research
, vol.30
, Issue.4
, pp. 891-899
-
-
Huebner, A.1
Kaindl, A.M.2
Knobeloch, K.P.3
Petzold, H.4
Mann, P.5
Koehler, K.6
-
8
-
-
0026530589
-
Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long tract degeneration and mild dementia
-
10.1007/BF01958948 1537368
-
Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long tract degeneration and mild dementia. Grant DB, Dunger DB, Smith I, Hyland K, Eur J Pediatr 1992 151 85 89 10.1007/BF01958948 1537368
-
(1992)
Eur J Pediatr
, vol.151
, pp. 85-89
-
-
Grant, D.B.1
Dunger, D.B.2
Smith, I.3
Hyland, K.4
-
9
-
-
0037177071
-
Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation
-
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D, Neurology 2002 58 962 965 10.1212/WNL.58.6.962 11914417 (Pubitemid 34242077)
-
(2002)
Neurology
, vol.58
, Issue.6
, pp. 962-965
-
-
Goizet, C.1
Catargi, B.2
Tison, F.3
Tullio-Pelet, A.4
Hadj-Rabia, S.5
Pujol, F.6
Lagueny, A.7
Lyonnet, S.8
Lacombe, D.9
-
10
-
-
0036896407
-
Clinical and genetic characterization of families with triple A (Allgrove) syndrome
-
Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM, Brain 2002 125 2681 2690 10.1093/brain/awf270 12429595 (Pubitemid 35423517)
-
(2002)
Brain
, vol.125
, Issue.12
, pp. 2681-2690
-
-
Houlden, H.1
Smith, S.2
De Carvalho, M.3
Blake, J.4
Mathias, C.5
Wood, N.W.6
Reilly, M.M.7
-
11
-
-
77950146771
-
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
-
10.1111/j.1399-0004.2009.01348.x 20447142
-
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L, Clin Genet 2010 77 298 301 10.1111/j.1399-0004.2009. 01348.x 20447142
-
(2010)
Clin Genet
, vol.77
, pp. 298-301
-
-
Palka, C.1
Giuliani, R.2
Brancati, F.3
Mohn, A.4
Di Muzio, A.5
Calabrese, O.6
Huebner, A.7
De Grandis, D.8
Chiarelli, F.9
Ferlini, A.10
Stuppia, L.11
-
12
-
-
23844497563
-
Genotypic heterogeneity and clinical phenotype in triple A syndrome: A review of the NIH experience 2000-2005
-
DOI 10.1111/j.1399-0004.2005.00482.x
-
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of NIH experience 2000-2005. Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, Bei T, Bjornson B, Russell L, Chanoine JP, Tsagarakis S, Kalsner L, Stratakis C, Clin Genet 2005 68 215 221 10.1111/j.1399-0004.2005. 00482.x 16098009 (Pubitemid 41179547)
-
(2005)
Clinical Genetics
, vol.68
, Issue.3
, pp. 215-221
-
-
Brooks, B.P.1
Kleta, R.2
Stuart, C.3
Tuchman, M.4
Jeong, A.5
Stergiopoulos, S.G.6
Bei, T.7
Bjornson, B.8
Russell, L.9
Chanonine, J.-P.10
Tsagarakis, S.11
Kalsner, L.R.12
Stratakis, C.A.13
-
13
-
-
0038299041
-
Allgrove or 4 "A" syndrome: An autosomal recessive syndrome causing multisystem neurological disease
-
DOI 10.1136/jnnp.74.5.654
-
Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease. Kimber J, Mc Lean BN, Prevett M, Hammans SR, J Neurol Neurosurg Psychiatry 2003 74 654 657 10.1136/jnnp.74.5.654 12700313 (Pubitemid 36528914)
-
(2003)
Journal of Neurology Neurosurgery and Psychiatry
, vol.74
, Issue.5
, pp. 654-657
-
-
Kimber, J.1
McLean, B.N.2
Prevett, M.3
Hammans, S.R.4
-
14
-
-
33744931100
-
Chiari in the family: Inheritance of the chiari I malformation
-
DOI 10.1016/j.pediatrneurol.2005.09.008, PII S0887899405006326
-
Chiari in the family: inheritance of the Chiari 1 malformation. Szewka AJ, Walsh LE, Boaz JC, Carvalho KS, Golomb MR, Pediatr Neurol 2006 34 481 485 10.1016/j.pediatrneurol.2005.09.008 16765829 (Pubitemid 43841977)
-
(2006)
Pediatric Neurology
, vol.34
, Issue.6
, pp. 481-485
-
-
Szewka, A.J.1
Walsh, L.E.2
Boaz, J.C.3
Carvalho, K.S.4
Golomb, M.R.5
-
15
-
-
0036891422
-
Familial syringomyelia: The first Japanese case and review of the literature
-
DOI 10.1016/S0303-8467(02)00091-4, PII S0303846702000914
-
Familial syringomyelia: the first Japanese case and review of the literature. Yabe I, KiKuchi S, Tashiro K, Clinical Neurology and Neurosurgery 2002 105 69 71 10.1016/S0303-8467(02)00091-4 12445928 (Pubitemid 35365815)
-
(2002)
Clinical Neurology and Neurosurgery
, vol.105
, Issue.1
, pp. 69-71
-
-
Yabe, I.1
Kikuchi, S.2
Tashiro, K.3
-
16
-
-
2942711924
-
History, anatomic forms, and pathogenesis of Chiari I malformations
-
DOI 10.1007/s00381-003-0878-y
-
Hystory, aantomic forms, and pathogenesis of Chiari I malformation. Schijman E, Child Nerv System 2004 20 323 328 10.1007/s00381-003-0878-y (Pubitemid 38787318)
-
(2004)
Child's Nervous System
, vol.20
, Issue.5
, pp. 323-328
-
-
Schijman, E.1
|