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
An optimized tissue sampling scheme guided by MRI features reveals intratumoral heterogeneity in glioblastoma.
Wang JH et al.
Scientific Reports, 2025
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.
Musa SA et al.
Frontiers in Endocrinology, 2025
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.
Belmokhtar KY et al.
Molecular Syndromology, 2024
The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey.
Yıldırım R et al.
Endocrine, 2023
The evaluation of thiol-disulfide homeostasis in children with Triple-A syndrome.
Polat R et al.
European Review for Medical and Pharmacological Sciences, 2023
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Seven Menevse T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Mutation of the nuclear pore complex component, aladin1, disrupts asymmetric cell division in Zea mays (maize).
Best NB et al.
G3 (bethesda, Md.), 2021
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Jayant SS et al.
Hormones (athens, Greece), 2021
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience
Çamtosun E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.
Polat R et al.
Journal of Endocrinological Investigation, 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
Triple A syndrome: 32 years experience of a single centre (1977-2008).
Milenkovic T et al.
European Journal of Pediatrics, 2010
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
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
Krumbholz M et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 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
Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.
Yuksel B et al.
Hormone Research, 2004
New insights into the molecular basis of the triple A syndrome.
Huebner A et al.
Endocrine Research, 2002
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
Goizet C et al.
Neurology, 2002
Analysis of the AAAS gene in a Japanese patient with triple A syndrome.
Katsumata N et al.
Endocrine Journal, 2002
Mutant WD-repeat protein in triple-A syndrome.
Tullio-Pelet A et al.
Nature Genetics, 2000