Implementation of a Congenital Hypothyroidism Newborn Screening Procedure with Mutation Detection on Genomic DNA Extracted from Blood Spots: The Experience of the Italian Northeastern Reference Center
Author:
Affiliation:
1. Department of Mother and Child, Biology-Genetics, Division of Paediatrics, University of Verona, Verona, Italy.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2007.0033
Reference18 articles.
1. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
2. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2
3. Use of Denaturing HPLC to Provide Efficient Detection of Mutations Causing Familial Hypercholesterolemia
4. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes
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1. Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review;INQUIRY: The Journal of Health Care Organization, Provision, and Financing;2021-01
2. Resistance to thyrotropin;Best Practice & Research Clinical Endocrinology & Metabolism;2017-03
3. Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism;BMC Endocrine Disorders;2014-08-22
4. Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis;Arquivos Brasileiros de Endocrinologia & Metabologia;2012-04
5. Validation of a high-sensitivity assay for zatebradine in dried blood spots of human blood at pg/ml concentrations using HILIC–MS/MS;Bioanalysis;2010-11
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