|1|Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism. (27267969)
Blasig S.... Schomburg L.
|2|Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. (27349010)
Yang L.X.... Zheng X.
|3|Congenital hypothyroidism with delayed thyroid-stimulating hormone elevation in premature infants born at less than 30 weeks gestation. (27906195)
Kaluarachchi D.C.... Klein J.M.
|4|NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM. (27004363)
Ali M.... Siddiqui S.E.
|5|Congenital hypothyroidism: recent advances. (26313902)
Wassner A.J.... Brown R.S.
|6|Hippocampal Functioning and Verbal Associative Memory in Adolescents with Congenital Hypothyroidism. (26539162)
Wheeler S.M.... Rovet J.F.
|7|PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism. (26362610)
Fu C.... Chen S.
|8|Earlier re-evaluation may be possible in pediatric patients with eutopic congenital hypothyroidism requiring lower L-thyroxine doses. (25346918)
Cho M.S.... Koh D.G.
|9|Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. (25153580)
Kumorowicz-Czoch M.... Starzyk J.
|10|Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. (23840807)
Bekhit O.E.... Yousef R.M.
|11|A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism. (23412856)
Nirupam N.... Seth A.
|12|Neuroplastic effects of music lessons on hippocampal volume in children with congenital hypothyroidism. (24064411)
Zendel B.R.... Rovet J.F.
|13|Risk factors for congenital hypothyroidism in Egypt: results of a population case-control study (2003-2010). (23793431)
|14|Different aspects of kidney function in well-controlled congenital hypothyroidism. (23261862)
Gheissari A.... Adibi A.
|15|Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism. (22953072)
Kubicky R.A.... De Luca F.
|16|A case of congenital hypothyroidism in PHACE syndrome. (22876567)
Carinci S.... Chiarelli F.
|17|Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. (22898500)
Narumi S.... Hasegawa T.
|18|Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. (20718765)
Di Palma T.... Zannini M.
|19|Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. (21048839)
Jo W.... Tajima T.
|20|Effect of temperature changes on the occurrence of congenital hypothyroidism. (20956721)
Aminzadeh M.... Valavi E.
|21|Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. (18787501)
Dimitropoulos A.... Latal B.
|22|Neonatal sludge: a finding of congenital hypothyroidism. (21274296)
KurtoA9lu S.... YA+kA+lmaz A.
|23|Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. (18698134)
Blasi V.... Weber G.
|24|Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism. (18543337)
Hsu J.Y.... Xu X.M.
|25|Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. (18845185)
Zamoner A.... Pessoa-Pureur R.
|26|Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey. (18547957)
Adibi A.... Hovsepian S.
|27|Clinical description of infants with congenital hypothyroidism and iodide organification defects. (18772598)
Cavarzere P.... Czernichow P.
|28|Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. (17980011)
Esperante S.A.... Targovnik H.M.
|29|Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. (17218725)
Ng S.M.... Didi M.
|30|Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. (17374849)
Grasberger H.... Refetoff S.
|31|Longitudinal assessment of levo-thyroxine therapy for congenital hypothyroidism: relationship with aetiology, bone maturation and biochemical features. (17337903)
Delvecchio M.... Cavallo L.
|32|Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism. (17307219)
Nagayama J.... Konishi S.
|33|Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. (17437516)
Tonacchera M.... Pinchera A.
|34|Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. (15719039)
Wu X.Y.... Yu H.
|35|Genetics of congenital hypothyroidism. (15863666)
Park S.M.... Chatterjee V.K.
|36|Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. (14646397)
Alvarez M.... Alvarez V.
|37|Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. (15012609)
Evans C.... John R.
|38|Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. (15473876)
Wong S.C.... Didi M.
|39|Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. (14725684)
Park S.-M.... Chatterjee V.K.K.
|40|Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. (15289765)
Doyle D.A.... Scavina M.
|41|A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
Castanet M.... Polak M.
|42|Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. (11916616)
Umeki K.... Ichiba Y.
|43|Congenital hypothyroidism: etiologies, diagnosis, and management. (10447022)
|44|Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. (8964831)
Bikker H.... de Vijlder J.J.
|45|Childhood IQ measurements in infants with transient congenital hypothyroidism. (7586623)
Calaciura F.... Vigneri R.
|46|Bone mineral metabolism and thyroid replacement therapy in congenital hypothyroid infants and young children. (7560809)
Weber G.... Chiumello G.
|47|Circulating thyroid antibodies in congenital hypothyroidism. (1659767)
Ilicki A.... Karlsson F.A.
|48|Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
Hsiao K.J.... Clemens P.
|49|Bromide partition test in the evaluation of the blood-cerebrospinal barrier in children with congenital hypothyroidism and central nervous system disease. (1224969)
SzczepaA8ski Z.... Sliva F.
|50|Clinical kernicterus and congenital hypothyroidism. (13493800)
BIALKIN G.... Harris L.