1
|
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. View Article : Google Scholar : PubMed/NCBI
|
2
|
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. View Article : Google Scholar : PubMed/NCBI
|
3
|
Sandrini F, Farmakidis C, Kirschner LS, Wu
SM, TullioPelet A, Lyonnet S, Metzger 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. View Article : Google Scholar : PubMed/NCBI
|
4
|
Bizzarri C, Benevento D, Terzi C, Huebner
A and Cappa M: Triple A (Allgrove) syndrome: An unusual association
with syringomyelia. Ital J Pediatr. 39:392013. View Article : Google Scholar : PubMed/NCBI
|
5
|
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. 2013:6049212013.PubMed/NCBI
|
6
|
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. View Article : Google Scholar : PubMed/NCBI
|
7
|
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. View Article : Google Scholar : PubMed/NCBI
|
8
|
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). PubMed/NCBI
|
9
|
Sanger F, Nicklen S and Coulson AR: DNA
sequencing with chain-terminating inhibitors. Proc Natl Acad Sci
USA. 74:5463–5467. 1977. View Article : Google Scholar : PubMed/NCBI
|
10
|
Dumić M, Barišić N, Rojnić-Putarek N,
Kušec V, Stanimirović 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. View Article : Google Scholar : PubMed/NCBI
|
11
|
Marshall WA and Tanner JM: Variations in
pattern of pubertal changes in girls. Arch Dis Child. 44:291–303.
1969. View Article : Google Scholar : PubMed/NCBI
|
12
|
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. View Article : Google Scholar : PubMed/NCBI
|
13
|
Ismail EA, TulliotPelet 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. View Article : Google Scholar : PubMed/NCBI
|
14
|
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. View Article : Google Scholar : PubMed/NCBI
|
15
|
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.
View Article : Google Scholar : PubMed/NCBI
|
16
|
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.
View Article : Google Scholar : PubMed/NCBI
|
17
|
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. View Article : Google Scholar : PubMed/NCBI
|
18
|
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. View Article : Google Scholar : PubMed/NCBI
|
19
|
Vishnu VY, Modi M, Prabhakar S, Bhansali A
and Goyal MK: ‘A’ motor neuron disease. J Neurol Sci. 336:251–253.
2014. View Article : Google Scholar : PubMed/NCBI
|
20
|
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. View Article : Google Scholar : PubMed/NCBI
|
21
|
Sahinoglu N, Tuncer S, Alparslan N and
Peksayar G: Isolated form of congenital bilateral lacrimal gland
agenesis. Indian J Ophthalmol. 59:522–523. 2011. View Article : Google Scholar : PubMed/NCBI
|
22
|
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. View Article : Google Scholar : PubMed/NCBI
|
23
|
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. View Article : Google Scholar : PubMed/NCBI
|
24
|
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. View Article : Google Scholar : PubMed/NCBI
|
25
|
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. View Article : Google Scholar : PubMed/NCBI
|
26
|
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. View Article : Google Scholar : PubMed/NCBI
|
27
|
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. 4:72004. View Article : Google Scholar : PubMed/NCBI
|
28
|
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. View Article : Google Scholar : PubMed/NCBI
|
29
|
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. View Article : Google Scholar : PubMed/NCBI
|
30
|
Prpic I, Huebner A, Persic M, Handschug K
and Pavletic M: Triple A syndrome: Genotype-phenotype assessment.
Clin Genet. 63:415–417. 2003. View Article : Google Scholar : PubMed/NCBI
|
31
|
ReshmiSkarja 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. View Article : Google Scholar : PubMed/NCBI
|
32
|
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. View Article : Google Scholar : PubMed/NCBI
|