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
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.
Gheybi K et al.
Nature Communications, 2025
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Fertility and sexual activity in patients with Triple A syndrome.
Dumic KK et al.
Frontiers in Endocrinology, 2024
Generation of glucocorticoid-producing cells derived from human pluripotent stem cells.
Ruiz-Babot G et al.
Cell Reports Methods, 2023
The role of WD40 repeat-containing proteins in endocrine (dys)function.
Hu Y et al.
Journal of Molecular Endocrinology, 2023
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Rossen JL et al.
Genes, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Jayant SS et al.
Hormones (athens, Greece), 2021
Two novel truncating variants of the AAAS gene causative of the triple A syndrome.
Vezzoli V et al.
Journal of Endocrinological Investigation, 2020
Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
Lorea CF et al.
Cerebellum (london, England), 2020
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
India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.
Zhang JF et al.
Bmc Research Notes, 2017
Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.
Li W et al.
Experimental and Therapeutic Medicine, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
The genetic basis of triple A (Allgrove) syndrome in a Greek family.
Papageorgiou L et al.
Gene, 2013
Neurological features in adult Triple-A (Allgrove) syndrome.
Vallet AE et al.
Journal of Neurology, 2012
Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
Yassaee VR et al.
Archives of Medical Research, 2011
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.
Palka C et al.
Clinical Genetics, 2010
Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.
Cho AR et al.
Experimental & Molecular Medicine, 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
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
Koehler K et al.
European Journal of Human Genetics : Ejhg, 2008
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.
Salmaggi A et al.
Hormone Research, 2008
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
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
ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome.
Hirano M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
Association of chronic symptomatic neutropenia with the triple A syndrome.
Spiegel R et al.
Journal of Pediatric Hematology/oncology, 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
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
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.
Sandrini F et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
Handschug K et al.
Human Molecular Genetics, 2001
The nuclear pore complex: disease associations and functional correlations.
Cronshaw JM et al.
Trends in Endocrinology and Metabolism: Tem, 0