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Keywords: Congenital hypothyroidism
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Horm Res Paediatr (2020) 92 (5): 340–344.
Published Online: 08 November 2019
..., instructions or products referred to in the content or advertisements. NKX2-1 Brain-lung-thyroid syndrome Hypopituitarism Congenital hypothyroidism UKRI (UK Research and Innovation) Heterozygous point mutations or haploinsufficiency of the transcription factor NKX2-1...
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Horm Res Paediatr (2019) 91 (5): 319–328.
Published Online: 07 August 2019
...Leslie Pitts; Winston McCormick; Gail J. Mick Background/Aims: Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive...
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Horm Res Paediatr (2018) 90 (2): 73–81.
Published Online: 29 August 2018
...Giovanni Prezioso; Cosimo Giannini; Francesco Chiarelli This review focuses on the current knowledge of the effects of thyroid hormones on central nervous system differentiation and development in animals and the human fetal brain. The outcomes of children with congenital hypothyroidism...
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Horm Res Paediatr (2018) 90 (2): 132–137.
Published Online: 15 August 2018
... factor 2 (DUOXA2), together with dual oxidase 2, serves pivotal roles in thyroid hormone biosynthesis. To date, all reported patients with DUOXA2 mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism. Case Report: The mother of a male fetus presented at 33 + 4...
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Horm Res Paediatr (2017) 87 (3): 170–178.
Published Online: 03 March 2017
... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Down syndrome Thyroid diseases Congenital heart malformation Congenital hypothyroidism Screening National Institutes of Health (NIH) 10.13039/100000002...
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Horm Res Paediatr (2016) 85 (1): 22–28.
Published Online: 16 December 2015
...Iroro E. Yarhere; Tamunopriye Jaja; Abiola Oduwole; M. Ugochi Ibekwe; Salma Suwaid; Yahaya Alkali; Kayode Adeniran; Bolanle Fetuga; Olumide O. Jarrett; Jerome B. Elusiyan; Omotayo Adesiyun; Hafsat W. Idris; Oliver Blankenstein; Nwadiuto A. Akani Background: Congenital hypothyroidism is a common...
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