Disease: Cretinism
- <em>TAF1</em> is needed for the proliferation and maturation of thyroid follicle cells <em>via</em> Notch signaling
- 11beta Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report
- 11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report
- A case of congenital hypothyroidism and Turner syndrome.
- A Computational Approach: The Functional Effects of Thyroid Peroxidase Variants in Thyroid Cancer and Genetic Disorders
- A French nationwide study compared various conditions and healthcare use of individuals < 65 years with a Down's syndrome to those without
- A literature review on the redundancy of additional thyroid function tests in neonates of mothers with hypothyroidism
- 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 novel variant of <em>IGSF1</em> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups
- A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups
- A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del)
- Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
- An Integrative/Functional Approach to Congenital Hypothyroidism in Infants
- Antioxidant effects of alpha-lipoic acid against epididymal oxidative damage in adult offspring rats exposed to maternal hypothyroidism stress
- Antioxidant effects of α-lipoic acid against epididymal oxidative damage in adult offspring rats exposed to maternal hypothyroidism stress
- Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening
- Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening
- Assessment of new hydrogen peroxide activators in water and comparison of their active species toward contaminants of emerging concern
- Association between congenital hypothyroidism and in-hospital adverse outcomes in very low birth weight infants
- Association between hypothyroidism subtypes and major depression: A two-sample Mendelian randomization study
- Basilar Invagination
- Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
- Cardiovascular disease in pregnancy and its outcome: A prospective study
- Case report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD
- 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 features and genetic analysis of three patients with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome due to variants of FOXP3 gene
- Comparison between transient and permanent congenital hypothyroidism on a thyroid function test after re-evaluation
- 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 Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene : Case Series of three patients
- Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation
- Congenital Hypothyroidism with thyroid in situ: a case report with NKX2-1 and DUOX2 hypomorphic variants
- Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling
- Development and utilization of new O<sub>2</sub>-independent bioreporters
- Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients
- Diagnostic value of CSF chromogranin A to discriminate between Alzheimer's disease and dementia with Lewy bodies
- Disulfide Bonds of Thyroid Peroxidase Are Critical Elements for Subcellular Localization, Proteasome-Dependent Degradation, and Enzyme Activity
- Ectopic lingual thyroid with subclinical hypothyroidism in children
- Efficacy of Semaglutide in Overweight and Obese Patients with Type 1 Diabetes
- Etiological Profile, Targeted Levothyroxine Dosing and Impact of Partial Newborn Screening in Congenital Hypothyroidism-A Single Centre Experience
- Evaluation of patients diagnosed with congenital hypothyroidism by newborn screening between 2011-2019 in Diyarbakir, Turkey
- Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey
- Feline congenital hypothyroidism: a case report
- Follow-up of a Term Infant with Congenital Hypothyroidism
- Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects
- GLIS3 expression in the thyroid gland in relation to TSH signaling and regulation of gene expression
- Hashimoto's Thyroiditis in Noonan Syndrome: A Case Report
- 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
- Hoffmann's syndrome in subclinical hypothyroidism
- Hypothyroid Myopathy
- 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
- Idiopathic isolated adrenocorticotropic hormone deficiency: a systematic review of a heterogeneous and underreported disease
- Immune Checkpoint Inhibitor Use During Pregnancy and Outcomes in Pregnant Individuals and Newborns
- IMPACT OF MOTHER'S HYPOTHYROIDISM ON FETAL DEVELOPMENT AND OUTCOMES: A SYSTEMATIC REVIEW
- Impact of obstructive sleep apnoea on cardiovascular outcomes and mortality in young adults with congenital heart anomalies: insights from the national inpatient sample (2019)
- Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice
- Intracranial lipoma: an incidental finding and a rare cause of secondary headache
- Iodine Status in Cyprus and Neighboring Countries: A Review Article
- 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
- Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T knock-in model
- Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model
- Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings
- Mutant Tbl1x male mice have a short lifespan and do not breed: unexpected findings
- Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients
- Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time
- 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
- Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
- Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
- Outcomes of cardiothoracic surgery in women with Turner syndrome
- Permanent versus Transient Congenital Hypothyroidism in Chinese Children: Physical Growth and Predictive Nomogram
- Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records
- 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
- Precocious Puberty: Types, Pathogenesis and Updated Management
- Prevalence of Congenital Hypothyroidism in India: Mapping and Critical Appraisal
- Progress of newborn screening in China
- Pulseless Electrical Activity and Perioperative Cardiac Arrest Due to Undiagnosed and Asymptomatic Hypothyroidism During Outpatient Surgery in an Adolescent
- 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
- Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022
- Risks of suboptimal and excessive thyroid hormone replacement across ages
- Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
- 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
- Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi - A retrospective chart review
- Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism
- The hypothalamic-pituitary-thyroid axis is intact in male insulin receptor substrate 4 knockout mice
- 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
- TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
- Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report