Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R et al.
European Journal of Endocrinology, 2022
Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.
Kaplan AI et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Acar S et al.
Journal of Endocrinological Investigation, 2022
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P et al.
Frontiers in Endocrinology, 2021
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.
Borges MF et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2019
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM7_ESM.xlsx › Cand_LOF_inhAR
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
Nicholas AK et al.
Clinical Endocrinology, 2017
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