Disease: Congenital hypothyroidism
- <em>TAF1</em> is needed for the proliferation and maturation of thyroid follicle cells <em>via</em> Notch signaling
- <em>TAF1</em> is needed for the proliferation and maturation of thyroid follicle cells via Notch signaling
- A case report on congenital hypothyroidism and alpha thalassemia in children with anemia and muscle damage as the main manifestation
- A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report
- A Novel Missense Variant in the NKX2-1 <em>Homeodomain</em> Prevents Transcriptional Rescue by TAZ
- A novel useful marker in the early discrimination of transient hyperthyrotropinemia/hypothyroxinemia and congenital hypothyroidism in preterm infants: thyroid-stimulating hormone/free thyroxine ratio
- A practical gestational age-based algorithm for timely detection of hypothyroidism in premature infants
- Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
- An insight into Indonesia's progress for newborn screening program: What is currently going on
- An Integrative/Functional Approach to Congenital Hypothyroidism in Infants
- Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome
- Associations between OGTT results during pregnancy and offspring TSH levels: a birth cohort study
- Cardiometabolic Risk Factors in Mexican Adults With Congenital Heart Disease
- Clinical and magnetic resonance imaging findings in a French bulldog puppy with genetically confirmed congenital hypothyroidism
- Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan
- Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the <em>thyroglobulin</em> gene
- Clinical course of congenital hypothyroidism with gland in situ and necessity of L-thyroxine therapy after re-evaluation
- Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ
- Clinical findings in a series of 38 patients with Williams-Beuren Syndrome
- Complex Cardiovascular Morbidities in Prader-Willi Syndrome: A Multidisciplinary Approach
- Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone
- Congenital and acquired hypothyroidism: temporal and spatial trends in France from 2014 to 2019
- Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center
- Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation
- Congenital Hypothyroidism and School Achievement in Adolescence: A Population-based Sibling Control Study
- Congenital Hypothyroidism with Neuronal Migration Anomaly
- Congenital Hypothyroidism with Thyroid in situ: A Case Report with NKX2-1 and DUOX2 Hypomorphic Variants
- Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management
- Different Forms of Hypothyroidism in Infants with Maternal Graves' Disease: A Case Series
- Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders
- Disulfide Bonds of Thyroid Peroxidase Are Critical Elements for Subcellular Localization, Proteasome-Dependent Degradation, and Enzyme Activity
- Dual challenge inside the womb: a case report of concomitant fetal atrio-ventricular block associated with maternal anti-SSA antibodies and fetal tachyarrhythmia diagnosed as Wolff-Parkinson-White syndrome after birth
- Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome
- Ectopic lingual thyroid with subclinical hypothyroidism in children
- Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene
- Evaluation of the effect of COVID-19 infection in pregnancy and puerperium in a suburban medical college in West Bengal, India
- Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program
- Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey
- Follow-up of a Term Infant with Congenital Hypothyroidism
- Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile
- Frequency of seropositive celiac disease and hypothyroidism among children and adolescents with congenital heart disease: A case-control study
- Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population
- Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
- Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience
- High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients
- High-resolution melt curve analysis: An approach for variant detection in the TPO gene of congenital hypothyroid patients in Bangladesh
- History of Neonatal Screening of Congenital Hypothyroidism in Portugal
- Homozygous <em>TBCE</em> Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients
- Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects
- Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism
- Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism
- Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing
- Immune Checkpoint Inhibitor Use During Pregnancy and Outcomes in Pregnant Individuals and Newborns
- Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil
- Impact of obstructive sleep apnoea on cardiovascular outcomes and mortality in young adults with congenital heart anomalies: insights from the national inpatient sample (2019)
- Incidence and associated risk factors of congenital hypothyroidism among newborns in Hainan, China: a retrospective study
- Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice
- Indications for Intravenous T3 and T4
- Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders
- Insights into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis
- Is There a Cumulative Effect for Congenital Heart Defects in Monochorionic Twins after Assisted Reproduction? - A Retrospective Analysis at a Tertiary Referral Center
- JAG1 Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China
- Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
- Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report
- Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges
- Mapping Thyroid Hormone Action in the Human Brain
- Maternal diseases and congenital anomalies of the kidney and urinary tract in offspring: a cohort study
- Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants
- Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings
- NANS-CDG: Expanding clinical insights with a novel patient with novel variants
- Newborn screening in Colombia: The experience of a private program in Bogotá
- Newborn screening in France: news and perspectives
- Normal intellectual ability and hyperprolactinemia as unique clinical manifestations of congenital hypothyroidism: A case report and review of hypotheses
- Nutritional and exercise interventions to improve conception in women suffering from obesity and distinct nosological entities
- Paediatric thyroid disease
- Patients with Thyroid Dyshormonogenesis and <em>DUOX2</em> Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation
- Personalized Management of Malignant and Non-Malignant Ectopic Mediastinal Thyroid: A Proposed 10-Item Algorithm Approach
- Pituitary deficiencies related to optic nerve hypoplasia and visual acuity
- Pituitary Stalk Interruption Syndrome with Excessive Height Growth Combined with Congenital Absence of the Uterus and Ovaries: A Rare Case Report and Review of the Literature
- Prevalence of Congenital Hypothyroidism in India: Mapping and Critical Appraisal
- Quality of life and socioeconomic and educational status in patients with congenital hypothyroidism
- Reference intervals for thyroid function from the fifth to seventh day of life in twin-pregnancy preterm neonates: an 8-year retrospective study
- Revealing the genetic complexity of hypothyroidism: integrating complementary association methods
- Screening for Delayed Thyroid Stimulation Hormone Rise and Atypical Congenital Hypothyroidism in Infants Born Very Preterm and Infants with Very Low Birth Weight
- Screening for Delayed Thyroid Stimulation Hormone Rise and Atypical Congenital Hypothyroidism in Infants Born Very Preterm and Very Low Birth Weight Infants
- Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism
- Slipped capital femoral epiphysis in an adolescent with congenital adrenal hyperplasia: A case report
- Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
- The longitudinal growth trajectory of children with congenital hypothyroidism during the first 3 years of life
- Thiamine-Responsive Megaloblastic Anaemia With Hypothyroidism, A Puzzling Association
- Thyroid hormone deficiency affects anxiety-related behaviors and expression of hippocampal glutamate transporters in male congenital hypothyroid rat offspring
- Thyroid hormone deprival and TSH/TSHR signaling deficiency lead to central hypothyroidism-associated intestinal dysplasia
- Thyroid hormone protects human lung epithelial cells from cold preservation and warm reperfusion-induced injury
- Time-resolved interactome profiling deconvolutes secretory protein quality control dynamics
- Transcriptome networks and physiology related to cardiac function and motor activity are perturbed in larval zebrafish (Danio rerio) following exposure to the antidepressant citalopram
- Transposition of the lingual thyroid gland to the submandibular region through a submandibular approach: A case report
- TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
- Two cases of pituitary stalk interruption syndrome: importance of early detection and management
- Unusual congenital goiter due to maternal Hashimoto thyroiditis: a case report
- Was the massive increase in use of teratogenic agrichemicals in western states (USA) associated with declines in wild ruminant populations between 1994 and 2013?