Detection and treatment of congenital hypothyroidism

Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?

(2011) S. D. Grosse et al.   ARCHIVES OF DISEASE IN CHILDHOOD

A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with a Novel Biallelic DUOXA2 Mutation and Monoallelic DUOXA1 Deletion

(2011) Imge Hulur et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data

(2010) Alex R Kemper et al.   BMC Pediatrics

Spectrum of Human Foxe1/TTF2 Mutations

(2010) Mireille Castanet et al.   Hormone Research in Paediatrics

Screening for Congenital Hypothyroidism: The Significance of Threshold Limit in False-Negative Results

(2010) Chryssanthi Mengreli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients

(2010) Satoshi Narumi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations

(2010) Carrie Ris-Stalpers et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations

(2010) Lucia Montanelli et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Congenital hypothyroidism

(2010) Maynika V Rastogi et al.   Orphanet Journal of Rare Diseases

Trends in Incidence Rates of Congenital Hypothyroidism Related to Select Demographic Factors: Data From the United States, California, Massachusetts, New York, and Texas

(2010) Cynthia F. Hinton et al.   PEDIATRICS

Variation by Ethnicity in the Prevalence of Congenital Hypothyroidism Due to Thyroid Dysgenesis

(2010) Sophie Stoppa-Vaucher et al.   THYROID

Difficulties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold

(2009) S. M. Korada et al.   ARCHIVES OF DISEASE IN CHILDHOOD

A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)

(2009) Carlo Corbetta et al.   CLINICAL ENDOCRINOLOGY

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

(2009) Aigerim Bizhanova et al.   ENDOCRINOLOGY

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

(2009) A. Carre et al.   HUMAN MOLECULAR GENETICS

NKX2-1mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome”

(2009) Loïc Guillot et al.   HUMAN MUTATION

Natural History of Thyroid Function Tests over 5 Years in a Large Pediatric Cohort

(2009) Liora Lazar et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Children With Congenital Hypothyroidism: Long-Term Intellectual Outcome After Early High-Dose Treatment

(2009) Anastasia Dimitropoulos et al.   PEDIATRIC RESEARCH

Pitfalls in Screening Programs for Congenital Hypothyroidism in Premature Newborns

(2008) Amir Kugelman et al.   AMERICAN JOURNAL OF PERINATOLOGY

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome

(2008) S. Stagi et al.   HORMONE RESEARCH

Scintigraphic Imaging of Paediatric Thyroid Dysfunction

(2008) J. Clerc et al.   HORMONE RESEARCH

Long-Term Cardiovascular Effects of Levothyroxine Therapy in Young Adults with Congenital Hypothyroidism

(2008) Mariacarolina Salerno et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pendred syndrome and iodide transport in the thyroid

(2008) Peter Kopp et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM