Associated Papers
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
New Insights Into TRMT10A Syndrome: Case Report and Literature Review.
Ceraolo G et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025
Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.
Samhani C et al.
Diabetes & Metabolism, 2024
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
Şıklar Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys
Stern E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.
Brener A et al.
Acta Diabetologica, 2022
Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.
Cosentino C et al.
Nucleic Acids Research, 2018
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.
Shields BM et al.
Diabetes Care, 2017
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.
Yew TW et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2016
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