Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.

Frontiers in endocrinology - 1 Jan 2020

Zdraveska Nikolina, Kocova Mirjana, Nicholas Adeline K, Anastasovska Violeta, Schoenmakers Nadia

Abstract excerpt

Neonatal screening in Macedonia detects congenital hypothyroidism (CH) with an incidence of 1 in 1,585, and more than 50% of cases exhibit a normally located gland-in-situ (GIS). Monogenic mutations causing dyshormonogenesis may underlie GIS CH; additionally, a small proportion of thyroid hypoplasia has a monogenic cause, such as TSHR and PAX8 defects. The genetic architecture of Macedonian CH cases has not...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Congenital Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Infant, Newborn

Share to PAX8 Transcription Factor

Share to Receptors, Thyrotropin

Share to Thyroid Dysgenesis

Source

Open in PubMed Open full text

Identifiers

PMID: 32765423
DOI: 10.3389/fendo.2020.00413
PMCID: PMC7381236

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.PMID 32765423Read ↗

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.Semantic proximity Read ↗

Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience.Semantic proximity Read ↗

Clinical genetics of defects in thyroid hormone synthesisSemantic proximity Read ↗

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.Semantic proximity Read ↗

Genetics of congenital hypothyroidism: Modern conceptsSemantic proximity Read ↗

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.Semantic proximity Read ↗

Genetic Etiology in Patients Diagnosed With Congenital Hypothroidism With New Generation Sequencing: a Single Center ExperienceSemantic proximity Read ↗

Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.Semantic proximity Read ↗

New genetics in congenital hypothyroidism.Semantic proximity Read ↗

Genetics of primary congenital hypothyroidism-a review.Semantic proximity Read ↗

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.