SynthesisJournal of endocrinological investigation2013
The molecular causes of thyroid dysgenesis: a systematic review.
Synthesis in Journal of endocrinological investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 68 citations in OpenAlex.
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?Italian journal of pediatrics · 2025Article
- Primary congenital hypothyroidism: a clinical review.Frontiers in endocrinology · 2025Review
- Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice.Frontiers in endocrinology · 2025Article
- Personalized Management of Malignant and Non-Malignant Ectopic Mediastinal Thyroid: A Proposed 10-Item Algorithm Approach.Cancers · 2024Review
- Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.Children (Basel, Switzerland) · 2024Article
- Tongue Base Ectopic Thyroid Tissue-Is It a Rare Encounter?Medicina (Kaunas, Lithuania) · 2023Article
- Article
- Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.Frontiers in pediatrics · 2023Article
- PAX8 in the Junction between Development and Tumorigenesis.International journal of molecular sciences · 2022Review
- Resistance to thyroid hormone in a child with thyroid agenesis: A case report with review of the literature.Annals of medicine and surgery (2012) · 2022Article
- Deficiency of Thyroid Hormone Reduces Voltage-Gated NaInternational journal of molecular sciences · 2022Article
- Hyperthyroidism secondary to a primary mediastinal goiter with normal functional cervical thyroid gland.Clinical case reports · 2021Article
- Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland.Radiology case reports · 2021Article
- Prediction of heparin binding of mutated short sequences of rat thyroglobulin.Journal of endocrinological investigation · 2021Article
- Screening and Functional Analysis ofFrontiers in endocrinology · 2021Article
- Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.Frontiers in endocrinology · 2021Article
- Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.International journal of general medicine · 2021Article
- Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.Molecular medicine reports · 2020Article
- Mucosa-associated lymphoid tissue (MALT) lymphoma developing in ectopic mediastinal thyroid tissue: a case report.Surgical case reports · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital hypothyroidism (CH) is a frequent disease occurring with an incidence of about 1/2500 newborns/year. In 80-85% of the cases CH is caused by alterations in thyroid morphogenesis, generally indicated by the term "thyroid dysgenesis" (TD). TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated. In these cases, mutations in genes playing a role during thyroid morphogenesis (NKX2-1, PAX8, FOXE1, NKX2-5, TSHR) have been reported.
aimThis work reviews the main steps of thyroid morphogenesis and all the genetic alterations associated with TD and published in the literature.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.