Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF et al.
Endocrine, 2022
Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
Larrivée-Vanier S et al.
Thyroid : Official Journal of the American Thyroid Association, 2022
Adenine base editor engineering reduces editing of bystander cytosines.
Jeong YK et al.
Nature Biotechnology, 2021
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
Rodrigues TMB et al.
Frontiers in Endocrinology, 2021
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Bougacha-Elleuch N et al.
European Journal of Pediatrics, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
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
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
Lee ST et al.
Clinical Endocrinology, 2011
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
Deladoëy J et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
Pfarr N et al.
Clinical Endocrinology, 2006
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
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
Nascimento AC et al.
Thyroid : Official Journal of the American Thyroid Association, 2003