Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Long-Term Follow-up of a Case with TBX19 Mutation, a Rare Cause of Isolated ACTH Deficiency and Literature Review.
Ceran A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_2_WES_var
Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.
Abali ZY et al.
Hormones (athens, Greece), 2019
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
Akcan N et al.
Frontiers in Endocrinology, 2017
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
Couture C et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Molecular mechanisms of pituitary differentiation and regulation: implications for hormone deficiencies and hormone resistance syndromes.
Drouin J
Frontiers of Hormone Research, 2006
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
[Tpit mutations reveal a new model of pituitary differentiation and account for isolated ACTH deficiency].
Pulichino AM et al.
Medecine Sciences : M/s, 2004
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA et al.
European Journal of Endocrinology, 2004
Congenital early onset isolated adrenocorticotropin deficiency associated with a TPIT gene mutation.
Atasay B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
Pulichino AM et al.
Genes & Development, 2003
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