Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.
Rueda-Gaitán P et al.
Frontiers in Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism: Insights from targeted exome sequencing.
Zgheib O et al.
Pediatric Discovery, 2024
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR et al.
American Journal of Medical Genetics. Part A, 2022
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF et al.
Endocrine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Defects in protein folding in congenital hypothyroidism.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.
Zdraveska N et al.
Frontiers in Endocrinology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
Zou M et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
Makretskaya N et al.
Plos One, 2018
Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter.
Al-Faisal AH et al.
Comparative Clinical Pathology, 2014
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
Cangul H et al.
Clinical Endocrinology, 2013
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Belforte FS et al.
Clinical Endocrinology, 2012
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.
Neves SC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
Rivolta CM et al.
Clinical Endocrinology, 2007
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.
Rodrigues C et al.
European Journal of Endocrinology, 2005
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
Rivolta CM et al.
Human Mutation, 2003