High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2–1 mutations)

BD LeMoine, LP Browne, DR Liptzin, RR Deterding… - Pediatric …, 2019 - Springer
mutations result in nonviable phenotypes with dysplastic formation of the lungs, pituitary and
thyroid … article reviewed the heterogeneity of lung disease in NKX2–1 mutations, with a short …

[HTML][HTML] Thyroid carcinoma: phenotypic features, underlying biology and potential relevance for targeting therapy

J Hu, IJ Yuan, S Mirshahidi, A Simental, SC Lee… - International journal of …, 2021 - mdpi.com
Phenotypic heterogeneity in tumor cell populations that … the phenotypic heterogeneity in
subtypes of thyroid cancers. … and inhibited the lung metastasis development in a thyroid cancer …

Molecular defects in thyroid dysgenesis

C Mio, G Grani, C Durante, G Damante - Clinical genetics, 2020 - Wiley Online Library
… NKX2-1 mutations are associated to the “brain-lung-thyroid” syndrome, a triad characterized
… the phenotypic heterogeneity (either inter or intra-familial) of subjects harboring mutation of …

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

M Prapa, M Lago-Docampo, EM Swietlik… - … journal of respiratory …, 2022 - atsjournals.org
… Our study identifies genetic determinants of TBX4 disease heterogeneity, inclusive of …
associated with later-onset lung disease. It draws important conclusions on genotype–phenotype

[HTML][HTML] Molecular pathology of well-differentiated pulmonary and thymic neuroendocrine tumors: what do pathologists need to know?

M Volante, O Mete, G Pelosi, AC Roden, EJM Speel… - Endocrine …, 2021 - Springer
… Moreover, based on data in cases with spatial and/or temporal heterogeneity, this study
proposes an evolutionary model from clones of lower aggressivity through the accumulation of “…

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid

N Camats, N Baz-Redón… - The Journal of …, 2021 - academic.oup.com
Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases … and lung,
which is why some mutations in these genes cause syndromic phenotypes that are associated

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

C Galambos, MP Mullen, JT Shieh… - … Respiratory Journal, 2019 - Eur Respiratory Soc
… Although PAH is heterogeneous, genetic defects relevant to pulmonaryMutations in
the bone morphogenetic protein (BMP) receptor type 2 gene (BMPR2) and other BMP-associated

[HTML][HTML] Molecular pathology of poorly differentiated and anaplastic thyroid cancer: what do pathologists need to know?

M Volante, AK Lam, M Papotti, G Tallini - Endocrine pathology, 2021 - Springer
… Genes associated with aggressive phenotype, such as TERT, are generally … Data on
the molecular heterogeneity of poorly differentiated carcinomas associated with well-differentiated …

Is Benign Hereditary Chorea Really Benign? Brain‐LungThyroid Syndrome Caused by NKX2‐1 Mutations

M Parnes, H Bashir, J Jankovic - Movement Disorders Clinical …, 2019 - Wiley Online Library
… The phenotype associated with pathogenic variants in NKX2-… illustrates that mutations in
NKX2-1 are associated with a … Considering the heterogeneous and disabling nature of the …

[HTML][HTML] Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

I Hernandez-Gonzalez, J Tenorio, J Palomino-Doza… - PLoS …, 2020 - journals.plos.org
phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated
This study aimed to describe the phenotype of PAH associated with TBX4 variants. …