Associated Papers
Analysis of children with familial short stature: who should be indicated for genetic testing?
Plachy L et al.
Endocrine Connections, 2023
37561071 (PubMed )
Supplement: supplementary_table_2.pdf
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S9
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P et al.
Frontiers in Endocrinology, 2021
34566885 (PubMed )
Supplement: Table_1.docx
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Recent advances in research on isolated congenital central hypothyroidism.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 2018
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.
García M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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