Associated Papers
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
Juścińska E et al.
Neurogenetics, 2026
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Fertility and sexual activity in patients with Triple A syndrome.
Dumic KK et al.
Frontiers in Endocrinology, 2024
Very early and severe presentation of Triple A syndrome - case report and review of the literature.
Cehic M et al.
Frontiers in Endocrinology, 2024
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Bitetto G et al.
Human Molecular Genetics, 2019
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E et al.
Molecular Genetics & Genomic Medicine, 2018
Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Singh K et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Patt H et al.
Endocrine Connections, 2017
The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.
Carvalhal S et al.
Molecular Biology of the Cell, 2015
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
Dumic M et al.
European Journal of Pediatrics, 2012
Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.
Marín S et al.
Hormone Research in Paediatrics, 2012
Triple A syndrome: 32 years experience of a single centre (1977-2008).
Milenkovic T et al.
European Journal of Pediatrics, 2010
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
Storr HL et al.
Molecular Endocrinology (baltimore, Md.), 2009
A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome.
Huynh T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2009
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
Milenković T et al.
European Journal of Pediatrics, 2008
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.
Dusek T et al.
Hormone Research, 2006
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.
Huebner A et al.
Endocrine Research, 2004
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
Brooks BP et al.
Bmc Ophthalmology, 2004
Triple A syndrome: genotype-phenotype assessment.
Prpic I et al.
Clinical Genetics, 2003