168 related articles for article (PubMed ID: 35570467)
1. Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Macke EL; Morales-Rosado JA; Macklin-Mantia SK; Schmitz CT; Oskarsson B; Klee EW; Wierenga KJ
Mol Genet Genomic Med; 2022 Jul; 10(7):e1966. PubMed ID: 35570467
[TBL] [Abstract][Full Text] [Related]
2. [Allgrove syndrome in the mainland of China: clinical report and mutation analysis].
Gong CX; Wen YR; Zhao XL; Su C; Cao BY; Zhang X
Zhonghua Er Ke Za Zhi; 2007 Jun; 45(6):422-5. PubMed ID: 17880786
[TBL] [Abstract][Full Text] [Related]
3. Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
Vezzoli V; Duminuco P; Pogliaghi G; Saccone M; Cangiano B; Rosatelli MC; Meloni A; Persani L; Bonomi M
J Endocrinol Invest; 2020 Jul; 43(7):973-982. PubMed ID: 31939195
[TBL] [Abstract][Full Text] [Related]
4. Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.
Cho AR; Yang KJ; Bae Y; Bahk YY; Kim E; Lee H; Kim JK; Park W; Rhim H; Choi SY; Imanaka T; Moon S; Yoon J; Yoon SK
Exp Mol Med; 2009 Jun; 41(6):381-6. PubMed ID: 19322026
[TBL] [Abstract][Full Text] [Related]
5. Clinical and genetic characterisation of a series of patients with triple A syndrome.
Kurnaz E; Duminuco P; Aycan Z; Savaş-Erdeve Ş; Muratoğlu Şahin N; Keskin M; Bayramoğlu E; Bonomi M; Çetinkaya S
Eur J Pediatr; 2018 Mar; 177(3):363-369. PubMed ID: 29255950
[TBL] [Abstract][Full Text] [Related]
6. Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Jayant SS; Gupta R; Agrawal K; Das L; Dutta P; Bhansali A
Hormones (Athens); 2021 Mar; 20(1):197-205. PubMed ID: 32700293
[TBL] [Abstract][Full Text] [Related]
7. Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.
Kallabi F; Belghuith N; Aloulou H; Kammoun T; Ghorbel S; Hajji M; Gallas S; Chemli J; Chabchoub I; Azzouz H; Ben Chehida A; Sfaihi L; Makni S; Amouri A; Keskes L; Tebib N; Ben Becher S; Hachicha M; Kamoun H
Arch Med Res; 2016 Feb; 47(2):105-10. PubMed ID: 27133709
[TBL] [Abstract][Full Text] [Related]
8. Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.
Krull I; M-Woelfle M; Bärlocher K; Koehler K; Huebner A; Brändle M
Exp Clin Endocrinol Diabetes; 2010 Aug; 118(8):530-6. PubMed ID: 20200814
[TBL] [Abstract][Full Text] [Related]
9. The genetic basis of triple A (Allgrove) syndrome in a Greek family.
Papageorgiou L; Mimidis K; Katsani KR; Fakis G
Gene; 2013 Jan; 512(2):505-9. PubMed ID: 23073554
[TBL] [Abstract][Full Text] [Related]
10. [From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome].
van Daele PL; de Herder WW; Huebner A
Ned Tijdschr Geneeskd; 2002 Nov; 146(48):2295-7. PubMed ID: 12497758
[TBL] [Abstract][Full Text] [Related]
11. Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
Kallabi F; Ben Rebeh I; Felhi R; Sellami D; Masmoudi S; Keskes L; Kamoun H
Horm Res Paediatr; 2016; 85(1):18-21. PubMed ID: 26595337
[TBL] [Abstract][Full Text] [Related]
12. Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene.
Jabbour S; Hamel P; Soucy JF; Ospina LH
Cornea; 2020 Jun; 39(6):782-783. PubMed ID: 32073457
[TBL] [Abstract][Full Text] [Related]
13. 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; Sabatelli M
J Neurol Sci; 2010 Mar; 290(1-2):150-2. PubMed ID: 20051279
[TBL] [Abstract][Full Text] [Related]
14. Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.
Villanueva-Mendoza C; artínez-Guzmán O; Rivera-Parra D; Zenteno JC
Ophthalmic Genet; 2009 Mar; 30(1):45-9. PubMed ID: 19172511
[TBL] [Abstract][Full Text] [Related]
15. Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Bitetto G; Ronchi D; Bonato S; Pittaro A; Compagnoni GM; Bordoni A; Salani S; Frattini E; Lopez G; Cribiù FM; Corti S; Comi GP; Bresolin N; Di Fonzo A
Hum Mol Genet; 2019 Dec; 28(23):3921-3927. PubMed ID: 31600784
[TBL] [Abstract][Full Text] [Related]
16. Two cases of Allgrove syndrome with mutations in the AAAS gene.
Kinjo S; Takemoto M; Miyako K; Kohno H; Tanaka T; Katsumata N
Endocr J; 2004 Oct; 51(5):473-7. PubMed ID: 15516781
[TBL] [Abstract][Full Text] [Related]
17. Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Singh K; Puri RD; Bhai P; Arya AD; Chawla G; Saxena R; Verma IC
J Pediatr Endocrinol Metab; 2018 Jul; 31(7):799-807. PubMed ID: 29874194
[TBL] [Abstract][Full Text] [Related]
18. Analysis of the AAAS gene in a Japanese patient with triple A syndrome.
Katsumata N; Hirose H; Kagami M; Tanaka T
Endocr J; 2002 Feb; 49(1):49-53. PubMed ID: 12008750
[TBL] [Abstract][Full Text] [Related]
19. 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 Nov; 26(3):332-5. PubMed ID: 11062474
[TBL] [Abstract][Full Text] [Related]
20. [Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene].
Capataz Ledesma M; Méndez Pérez P; Rodríguez López R; Galán Gómez E
An Pediatr (Barc); 2013 Feb; 78(2):109-12. PubMed ID: 22824007
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]