-
1
-
-
0017845477
-
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
-
Allgrove J, Clayden GS, Grant DB and Macaulay JC: Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1: 1284-1286, 1978.
-
(1978)
Lancet
, vol.1
, pp. 1284-1286
-
-
Allgrove, J.1
Clayden, G.S.2
Grant, D.B.3
Macaulay, J.C.4
-
2
-
-
0028950105
-
The ‘4A’ syndrome: Adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities
-
Gazarian M, Cowell CT, Bonney M and Grigor WG: The ‘4A’ syndrome: Adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr 154: 18-23, 1995.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 18-23
-
-
Gazarian, M.1
Cowell, C.T.2
Bonney, M.3
Grigor, W.G.4
-
3
-
-
17944382121
-
Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin
-
Sandrini F, Farmakidis C, Kirschner LS, Wu SM, Tullio-Pelet A, Lyonnet S, Met zger DL, Bourdony CJ, Tiosano D, Chan WY, et al: Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin. J Clin Endocrinol Metab 86: 5433-5437, 2001.
-
(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
Met Zger, D.L.7
Bourdony, C.J.8
Tiosano, D.9
Chan, W.Y.10
-
4
-
-
84879224246
-
Triple A (Allgrove) syndrome: An unusual association with syringomyelia
-
Bizzarri C, Benevento D, Terzi C, Huebner A and Cappa M: Triple A (Allgrove) syndrome: An unusual association with syringomyelia. Ital J Pediatr 39: 39, 2013.
-
(2013)
Ital J Pediatr
, vol.39
, pp. 39
-
-
Bizzarri, C.1
Benevento, D.2
Terzi, C.3
Huebner, A.4
Cappa, M.5
-
5
-
-
84940524148
-
Longitudinal neuropsychological profile in a patient with triple A syndrome
-
Mazzone L, Postorino V, De Peppo L, Vassena L, Fatta L, Armando M, Scirè G, Cappa M and Vicari S: Longitudinal neuropsychological profile in a patient with triple A syndrome. Case Rep Pediatr 2013: 604921, 2013.
-
(2013)
Case Rep Pediatr
-
-
Mazzone, L.1
Postorino, V.2
De Peppo, L.3
Vassena, L.4
Fatta, L.5
Armando, M.6
Scirè, G.7
Cappa, M.8
Vicari, S.9
-
6
-
-
84870386087
-
The genetic basis of triple A (Allgrove) syndrome in a Greek family
-
Papageorgiou L, Mimidis K, Katsani KR and Fakis G: The genetic basis of triple A (Allgrove) syndrome in a Greek family. Gene 512: 505-509, 2013.
-
(2013)
Gene
, vol.512
, pp. 505-509
-
-
Papageorgiou, L.1
Mimidis, K.2
Katsani, K.R.3
Fakis, G.4
-
7
-
-
11244262589
-
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 and Koehler K: The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 30: 891-899, 2004.
-
(2004)
Endocr Res
, vol.30
, pp. 891-899
-
-
Huebner, A.1
Kaindl, A.M.2
Knobeloch, K.P.3
Petzold, H.4
Mann, P.5
Koehler, K.6
-
8
-
-
79958296185
-
Allgrove syndrome in the mainland of China: Clinical report and mutation analysis
-
Chinese
-
Gong CX, Wen YR, Zhao XL, Su C, Cao BY and Zhang X: Allgrove syndrome in the mainland of China: Clinical report and mutation analysis. Zhonghua Er Ke Za Zhi 45: 422-425, 2007 (In Chinese).
-
(2007)
Zhonghua Er Ke Za Zhi
, vol.45
, pp. 422-425
-
-
Gong, C.X.1
Wen, Y.R.2
Zhao, X.L.3
Su, C.4
Cao, B.Y.5
Zhang, X.6
-
10
-
-
79954450866
-
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy
-
Dumic M, Barišic N, Rojnic-Putarek N, Kušec V, Stanimirovic A, Koehler K and Huebner A: Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr 170: 393-396, 2011.
-
(2011)
Eur J Pediatr
, vol.170
, pp. 393-396
-
-
Dumic, M.1
Barišic, N.2
Rojnic-Putarek, N.3
Kušec, V.4
Stanimirovic, A.5
Koehler, K.6
Huebner, A.7
-
11
-
-
0014524644
-
Variations in pattern of pubertal changes in girls
-
Marshall WA and Tanner JM: Variations in pattern of pubertal changes in girls. Arch Dis Child 44: 291-303, 1969.
-
(1969)
Arch Dis Child
, vol.44
, pp. 291-303
-
-
Marshall, W.A.1
Tanner, J.M.2
-
12
-
-
77956672211
-
Adult or late-onset triple A syndrome: Case report and literature review
-
Nakamura K, Yoshida K, Yoshinaga T, Kodaira M, Shimojima Y, Takei Y, Morita H, Kayanuma K and Ikeda S: Adult or late-onset triple A syndrome: Case report and literature review. J Neurol Sci 297: 85-88, 2010.
-
(2010)
J Neurol Sci
, vol.297
, pp. 85-88
-
-
Nakamura, K.1
Yoshida, K.2
Yoshinaga, T.3
Kodaira, M.4
Shimojima, Y.5
Takei, Y.6
Morita, H.7
Kayanuma, K.8
Ikeda, S.9
-
13
-
-
33748673800
-
Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene
-
Ismail EA, Tulliot-Pelet A, Mohsen AM and Al-Saleh Q: Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene. Acta Paediatr 95: 1140-1143, 2006.
-
(2006)
Acta Paediatr
, vol.95
, pp. 1140-1143
-
-
Ismail, E.A.1
Tulliot-Pelet, A.2
Mohsen, A.M.3
Al-Saleh, Q.4
-
14
-
-
0037947770
-
The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome
-
Cronshaw JM and Matunis MJ: The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA 100: 5823-5827, 2003.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 5823-5827
-
-
Cronshaw, J.M.1
Matunis, M.J.2
-
15
-
-
59449090843
-
Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome
-
Toromanovic A, Tahirovic H, Milenkovic T, Koehler K, Kind B, Zdravkovic D, Hasanhodzic M and Huebner A: Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. Eur J Pediatr 168: 317-320, 2009.
-
(2009)
Eur J Pediatr
, vol.168
, pp. 317-320
-
-
Toromanovic, A.1
Tahirovic, H.2
Milenkovic, T.3
Koehler, K.4
Kind, B.5
Zdravkovic, D.6
Hasanhodzic, M.7
Huebner, A.8
-
16
-
-
84867576899
-
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome
-
Dumic M, Barišic N, Kusec V, Stingl K, Skegro M, Stanimirovic A, Koehler K and Huebner A: Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur J Pediatr 171: 1453-1459, 2012.
-
(2012)
Eur J Pediatr
, vol.171
, pp. 1453-1459
-
-
Dumic, M.1
Barišic, N.2
Kusec, V.3
Stingl, K.4
Skegro, M.5
Stanimirovic, A.6
Koehler, K.7
Huebner, A.8
-
17
-
-
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, Reis A and Clark AJ: Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet 5: 2061-2066, 1996.
-
(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
Reis, A.7
Clark, A.J.8
-
18
-
-
74849111707
-
Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency
-
Luigetti M, Pizzuti A, Bartoletti S, Houlden H, Pirro C, Bottillo I, Madia F, Conte A, Tonali PA and Sabatelli M: Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J Neurol Sci 290: 150-152, 2010.
-
(2010)
J Neurol Sci
, vol.290
, pp. 150-152
-
-
Luigetti, M.1
Pizzuti, A.2
Bartoletti, S.3
Houlden, H.4
Pirro, C.5
Bottillo, I.6
Madia, F.7
Conte, A.8
Tonali, P.A.9
Sabatelli, M.10
-
19
-
-
84892624471
-
Bhansali A and Goyal MK: ‘A’ motor neuron disease
-
Vishnu VY, Modi M, Prabhakar S, Bhansali A and Goyal MK: ‘A’ motor neuron disease. J Neurol Sci 336: 251-253, 2014.
-
(2014)
J Neurol Sci
, vol.336
, pp. 251-253
-
-
Vishnu, V.Y.1
Modi, M.2
Prabhakar, S.3
-
20
-
-
24044531647
-
Two cases of lacrimal gland agenesis in the same family-clinicoradiologic findings and management
-
Kim SH, Hwang S, Kweon S, Kim TK and Oh J: Two cases of lacrimal gland agenesis in the same family-clinicoradiologic findings and management. Can J Ophthalmol 40: 502-505, 2005.
-
(2005)
Can J Ophthalmol
, vol.40
, pp. 502-505
-
-
Kim, S.H.1
Hwang, S.2
Kweon, S.3
Kim, T.K.4
Oh, J.5
-
22
-
-
84867357434
-
Structural evolution of the membrane-coating module of the nuclear pore complex
-
Liu X, Mitchell JM, Wozniak RW, Blobel G and Fan J: Structural evolution of the membrane-coating module of the nuclear pore complex. Proc Natl Acad Sci USA 109: 16498-16503, 2012.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 16498-16503
-
-
Liu, X.1
Mitchell, J.M.2
Wozniak, R.W.3
Blobel, G.4
Fan, J.5
-
23
-
-
70350128228
-
The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope
-
Kind B, Koehler K, Lorenz M and Huebner A: The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Biochem Biophys Res Commun 390: 205-210, 2009.
-
(2009)
Biochem Biophys Res Commun
, vol.390
, pp. 205-210
-
-
Kind, B.1
Koehler, K.2
Lorenz, M.3
Huebner, A.4
-
24
-
-
34547317067
-
Triple A syndrome with ophthalmic manifestations in two siblings
-
Babu K, Murthy KR, Babu N and Ramesh S: Triple A syndrome with ophthalmic manifestations in two siblings. Indian J Ophthalmol 55: 304-306, 2007.
-
(2007)
Indian J Ophthalmol
, vol.55
, pp. 304-306
-
-
Babu, K.1
Murthy, K.R.2
Babu, N.3
Ramesh, S.4
-
25
-
-
77950146771
-
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 and Stuppia L: Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. Clin Genet 77: 298-301, 2010.
-
(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
-
26
-
-
23844497563
-
Genotypic heterogeneity and clinical phenotype in triple A syndrome: A review of the NIH experience 2000-2005
-
Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, Bei T, Bjornson B, Russell L, Chanoine JP, et al: Genotypic heterogeneity and clinical phenotype in triple A syndrome: A review of the NIH experience 2000-2005. Clin Genet 68: 215-221, 2005.
-
(2005)
Clin Genet
, vol.68
, 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
Chanoine, J.P.10
-
27
-
-
4544262205
-
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: A case report
-
Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J and Stratakis CA: Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: A case report. BMC Ophthalmol 4: 7, 2004.
-
(2004)
BMC Ophthalmol
, vol.4
, pp. 7
-
-
Brooks, B.P.1
Kleta, R.2
Caruso, R.C.3
Stuart, C.4
Ludlow, J.5
Stratakis, C.A.6
-
28
-
-
0035253397
-
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 and Huebner A: Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10: 283-290, 2001.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 283-290
-
-
Handschug, K.1
Sperling, S.2
Yoon, S.J.3
Hennig, S.4
Clark, A.J.5
Huebner, A.6
-
29
-
-
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 and Reilly MM: Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 125: 2681-2690, 2002.
-
(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
Reilly, M.M.7
-
30
-
-
0042131835
-
Triple A syndrome: Genotype-phenotype assessment
-
Prpic I, Huebner A, Persic M, Handschug K and Pavletic M: Triple A syndrome: Genotype-phenotype assessment. Clin Genet 63: 415-417, 2003.
-
(2003)
Clin Genet
, vol.63
, pp. 415-417
-
-
Prpic, I.1
Huebner, A.2
Persic, M.3
Handschug, K.4
Pavletic, M.5
-
31
-
-
0038412586
-
Chromosomal fragility in patients with triple A syndrome
-
Reshmi-Skarja S, Huebner A, Handschug K, Finegold DN, Clark AJ and Gollin SM: Chromosomal fragility in patients with triple A syndrome. Am J Med Genet A 117A: 30-36, 2003.
-
(2003)
Am J Med Genet A
, vol.117
, pp. 30-36
-
-
Reshmi-Skarja, S.1
Huebner, A.2
Handschug, K.3
Finegold, D.N.4
Clark, A.J.5
Gollin, S.M.6
-
32
-
-
33745232567
-
Triple-A syndrome - The first Chinese patient with novel mutations in the AAAS gene
-
Lam YY, Lo IF, Shek CC, Tong TM, Ng DK, Tong TF, Choi MS, Lam ST and Ho CS: Triple-A syndrome - The first Chinese patient with novel mutations in the AAAS gene. J Pediatr Endocrinol Metab 19: 765-770, 2006.
-
(2006)
J Pediatr Endocrinol Metab
, vol.19
, pp. 765-770
-
-
Lam, Y.Y.1
Lo, I.F.2
Shek, C.C.3
Tong, T.M.4
Ng, D.K.5
Tong, T.F.6
Choi, M.S.7
Lam, S.T.8
Ho, C.S.9
|