Associated Papers
Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.
Mohideen SB et al.
Laboratory Medicine, 2025
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al.
European Journal of Pediatrics, 2022
A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Charnay T et al.
Frontiers in Endocrinology, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
[Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency].
Wu S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.
Kardelen Al AD et al.
Hormone Research in Paediatrics, 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
Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis.
Alsaleem M et al.
Bmj Case Reports, 2016
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
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
Pulichino AM et al.
Genes & Development, 2003