1.
Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA
by Ford, George A
Hormone research in paediatrics, 2016-10, Vol.86 (3), p.169-177
2.
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism
by Aycan, Zehra
The journal of clinical endocrinology and metabolism, 2017-09, Vol.102 (9), p.3085-3090
3.
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism
by Léger, Juliane
Hormone research in paediatrics, 2014-03, Vol.81 (2), p.80-103
4.
Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?
by Grosse, Scott D
Archives of disease in childhood, 2011-04, Vol.96 (4), p.374-379
5.
National Status of Testing for Hypothyroidism during Pregnancy and Postpartum
by Blatt, Amy J
The journal of clinical endocrinology and metabolism, 2012-03, Vol.97 (3), p.777-784
6.
Congenital Hypothyroidism With Eutopic Thyroid Gland: Analysis of Clinical and Biochemical Features at Diagnosis and After Re-Evaluation
by Rabbiosi, Sarah
The journal of clinical endocrinology and metabolism, 2013-04, Vol.98 (4), p.1395-1402
7.
Approach to the Diagnosis and Treatment of Neonatal Hypothyroidism
by LaFranchi, Stephen H
The journal of clinical endocrinology and metabolism, 2011-10, Vol.96 (10), p.2959-2967
8.
Defining the Newborn Blood Spot Screening Reference Interval for TSH: Impact of Ethnicity
by Peters, Catherine
The journal of clinical endocrinology and metabolism, 2016-09, Vol.101 (9), p.3445-3449
9.
Birth prevalence of disorders detectable through newborn screening by race/ethnicity
by Feuchtbaum, Lisa
Genetics in medicine, 2012-11, Vol.14 (11), p.937-945
10.
A novel mutation in EED associated with overgrowth
by Cohen, Ana S A
Journal of human genetics, 2015-06, Vol.60 (6), p.339-342
11.
Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroi...
by Olivieri, Antonella
The journal of clinical endocrinology and metabolism, 2013-04, Vol.98 (4), p.1403-1408
12.
Genetics of congenital hypothyroidism
by Park, S M
Journal of Medical Genetics, 2005-05, Vol.42 (5), p.379-389
13.
Evaluation of the congenital hypothyroidism screening programme in Iran: a 3-year retrospective cohort study
by Mehran, Ladan
Archives of disease in childhood. Fetal and neonatal edition, 2019-03, Vol.104 (2), p.F176-F181
14.
The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects
by Muzza, M
The journal of clinical endocrinology and metabolism, 2014-03, Vol.99 (3), p.E544-E553
15.
Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland
by Messina, Maria Francesca
Hormone research in paediatrics, 2015-09, Vol.84 (3), p.159-164
16.
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
by Smigiel, Robert
Journal of human genetics, 2018-04, Vol.63 (4), p.517-520
17.
The Severity of Congenital Hypothyroidism of Central Origin Should Not Be Underestimated
by Zwaveling-Soonawala, Nitash
The journal of clinical endocrinology and metabolism, 2015-02, Vol.100 (2), p.E297-E300
18.
Pregnancy Outcomes and Relationship to Treatment Adequacy in Women Treated Early for Congenital Hypothyroidism: A Longitudinal Population-Based Study
by Léger, Juliane
The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.860-869
19.
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq
by García, Marta
The journal of clinical endocrinology and metabolism, 2017-07-01, Vol.102 (7), p.2433-2442
20.
Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia—a multiethnic country
by Kocova, Mirjana
European journal of pediatrics, 2014-09-07, Vol.174 (4), p.443-448
