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

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.

The Journal of clinical endocrinology and metabolism - 1 Aug 2020

Yamaguchi Takeshi, Nakamura Akie, Nakayama Kanako, Hishimura Nozomi, Morikawa Shuntaro, Ishizu Katsura, Tajima Toshihiro

Abstract excerpt

PURPOSE: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder; however, its molecular etiology remains poorly understood. METHODS: We performed genetic analysis of 24 causative genes using next-generation sequencing in 167 CH cases, comprising 57 dyshormonogenesis (DH), 32 dysgenesis (TD) and 78 undiagnosed. The pathogenicity of variants was assessed by the American College of Medical...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Hypothyroidism
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inheritance Patterns

Share to Medical History Taking

Share to Neonatal Screening

Share to Thyrotropin

Share to Thyroxine

Source

Identifiers

PMID: 32459320
DOI: 10.1210/clinem/dgaa308

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.PMID 32459320Read ↗

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

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.Semantic proximity Read ↗

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

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With DyshormonogenesisSemantic proximity Read ↗

Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.Semantic proximity Read ↗

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.Semantic proximity Read ↗

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidismSemantic proximity Read ↗

Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.Semantic proximity Read ↗

Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.Semantic proximity Read ↗

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.Semantic proximity Read ↗

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidismSemantic proximity Read ↗

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