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
Allgrove Syndrome in Adults: A Case of an Atypical Presentation.
Maizi M et al.
Cureus, 2025
Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.
Khalfallah R et al.
Annales D'endocrinologie, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Primary adrenal insufficiency in children excluding congenital adrenal hyperplasia: insights from 33-year single-center experience in Tunisia.
Maaloul I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations.
Miyazawa H et al.
Internal Medicine (tokyo, Japan), 2021
Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
Vezzoli V 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Triple A syndrome: two siblings with a novel mutation in the AAAS gene.
Bouliari A et al.
Hormones (athens, Greece), 2019
CRISPR-induced exon skipping is dependent on premature termination codon mutations.
Sui T et al.
Genome Biology, 2018
Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report.
Berrani H et al.
Bmc Pediatrics, 2018
"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.
Tibussek D et al.
Bmc Pediatrics, 2018
Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.
Jühlen R et al.
Cell Division, 2018
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Patt H et al.
Endocrine Connections, 2017
Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.
Kallabi F et al.
Archives of Medical Research, 2016
Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
Kallabi F et al.
Hormone Research in Paediatrics, 2016
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
Kallabi F et al.
Hormone Research in Paediatrics, 2016
Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.
Li W et al.
Experimental and Therapeutic Medicine, 2015
[Allgrove syndrome].
Alakeel A et al.
Annales De Dermatologie Et De Venereologie, 2015
4A syndrome: ocular surface investigation in an Italian young patient.
Aragona P et al.
Bmc Ophthalmology, 2014
A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.
Cherif Ben Abdallah L et al.
Hormone Research in Paediatrics, 2014
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
Yassaee VR et al.
Archives of Medical Research, 2011
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
Unusual presentation of triple A syndrome mimicking Sjögren's syndrome.
Onat AM et al.
Clinical Rheumatology, 2007
[Allgrove syndrome in the mainland of China: clinical report and mutation analysis].
Gong CX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus.
Di Nardo G et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2005
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
Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
Houlden H et al.
Brain : a Journal of Neurology, 2002
New insights into the molecular basis of the triple A syndrome.
Huebner A et al.
Endocrine Research, 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
CLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT.
Lu C et al.
Aace Clinical Case Reports, 0