isoleucine and Congenital Hypothyroidism

isoleucine has been researched along with Congenital Hypothyroidism in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	2 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Cabrol, S; Carré, A; Castanet, M; Cerqueira, TL; Chevrier, L; De Roux, N; Guillot, L; Léger, J; Polak, M; Puel, O; Queinnec, C; Ramos, HE; Szinnai, G; Tron, E	1
Liu, L; Liu, S; Lu, D; Niu, X; Xia, H; Yan, S	1

Other Studies

2 other study(ies) available for isoleucine and Congenital Hypothyroidism

Article	Year
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. European journal of endocrinology, 2014, Volume: 171, Issue:4 Topics: Blotting, Western; Chromatography; Congenital Hypothyroidism; Cross-Sectional Studies; Female; France; Genetic Testing; Humans; Infant, Newborn; Isoleucine; Kidney; Male; Mutagenesis; Mutation; Neonatal Screening; Paired Box Transcription Factors; PAX8 Transcription Factor; Pedigree; Phenotype; Radionuclide Imaging; Threonine; Thyroid Dysgenesis; Thyrotropin; Transcriptional Activation; Ultrasonography	2014
A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression. The Journal of clinical endocrinology and metabolism, 2015, Volume: 100, Issue:4 Topics: Amino Acid Substitution; Base Sequence; Child; Child, Preschool; Congenital Hypothyroidism; Enzyme Activation; Female; Goiter; Humans; Hydrogen Peroxide; Isoleucine; Male; Membrane Proteins; Methionine; Molecular Sequence Data; Mutation, Missense; NADPH Oxidases	2015

Article

Year

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

European journal of endocrinology, 2014, Volume: 171, Issue:4

Topics: Blotting, Western; Chromatography; Congenital Hypothyroidism; Cross-Sectional Studies; Female; France; Genetic Testing; Humans; Infant, Newborn; Isoleucine; Kidney; Male; Mutagenesis; Mutation; Neonatal Screening; Paired Box Transcription Factors; PAX8 Transcription Factor; Pedigree; Phenotype; Radionuclide Imaging; Threonine; Thyroid Dysgenesis; Thyrotropin; Transcriptional Activation; Ultrasonography

2014

A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.

The Journal of clinical endocrinology and metabolism, 2015, Volume: 100, Issue:4

Topics: Amino Acid Substitution; Base Sequence; Child; Child, Preschool; Congenital Hypothyroidism; Enzyme Activation; Female; Goiter; Humans; Hydrogen Peroxide; Isoleucine; Male; Membrane Proteins; Methionine; Molecular Sequence Data; Mutation, Missense; NADPH Oxidases

2015