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

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.

Endocrine - 1 Jun 2022

Molina Maricel F, Papendieck Patricia, Sobrero Gabriela, Balbi Viviana A, Belforte Fiorella S, Martínez Elena Bueno, Adrover Ezequiela, Olcese María C, Chiesa Ana, Miras Mirta B, González Verónica G, Pio Mauricio Gomes, González-Sarmiento Rogelio, Targovnik Héctor M, Rivolta Carina M

Abstract excerpt

PURPOSE: Primary congenital hypothyroidism (CH) is the most common endocrine disease in children and one of the preventable causes of both cognitive and motor deficits. We present a genetic and bioinformatics investigation of rational clinical design in 17 Argentine patients suspected of CH due to thyroid dyshormonogenesis (TDH). METHODS: Next-Generation Sequencing approach was used to identify variants in...

Read the complete abstract on PubMed

Topics

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

Share to Argentina
Share to Autoantigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hypothyroidism

Share to Dual Oxidases

Share to Iodide Peroxidase

Share to Iron-Binding Proteins

Share to Receptors, Thyrotropin

Source

Identifiers

PMID: 35507000
DOI: 10.1007/s12020-022-03054-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.PMID 35507000Read ↗

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.Semantic proximity Read ↗

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.Semantic proximity Read ↗

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patientsSemantic proximity Read ↗

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

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

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

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Clinical genetics of defects in thyroid hormone synthesisSemantic proximity Read ↗

Combining whole-exome sequencing with clinical data for genotype–phenotype correlation in patients with congenital hypothyroidism that include the DUOX2 gene variationSemantic proximity Read ↗

Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism.Semantic proximity Read ↗

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.Semantic proximity Read ↗

The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.Semantic proximity Read ↗

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