Results 111 to 120 of about 208,465 (197)

Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

, 2002
Since the advent of biochemical screening for congenital hypothyroidism, the majority of monozygotic twins reported with thyroid dysgenesis have been discordant, and most were missed on neonatal screening, presumably due to fetal blood mixing.
Szöts, François, Van Vliet, G., Khoury, Khalil, Heinrichs, Claudine, Dussault, Jean H, Bourdoux, Pierre, Perry, Rebecca, Vassart, Gilbert   +7 more
core  

Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis

, 1997
Thyroid transription factor-1 (TTF-1) is a homeodomain-containing nuclear transcription factor, important in regulation of the thyroid-specific genes thyroglobulin (Tg), thyroperoxidase (TPO), and thyrotropin receptor (TSHR).
Sacco M, De Filippis V, Tassi V, Cisternino C, Civitareale D, Perna MG   +5 more
core  

Congenital hypothyroidism and thyroid dysgenesis: importance of newborn bloodspot screening in Ireland. [PDF]

Ir J Med Sci
McHugh A, O'Connell E, Hoare S, Heffernan C, Carolan E.   +4 more
europepmc   +1 more source

Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis. [PDF]

Int J Mol Sci
Dermitzaki N, Serbis A, Baltogianni M, Gialamprinou D, Giaprou LE, Kosmeri C, Giapros V.   +6 more
europepmc   +1 more source

Thyroid ultrasonography versus scintigraphy for establishing a stepwise imaging approach in pediatric patients with thyroid dysgenesis in resource-limited settings. [PDF]

Pediatr Endocrinol Diabetes Metab
Arafa N, Atef S, Elshwimy NKH, Onsy MMM, Hassanein SA.   +4 more
europepmc   +1 more source

JAG1 Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China. [PDF]

Int J Gen Med
Li M, Wang X, Wang F, Wang F, Zhao D, Liu S.   +5 more
europepmc   +1 more source

Parathyroid adenoma in a patient with congenital hypothyroidism

, 2018
Thyroid dysgenesis, the most common cause of congenital hypothyroidism, includes hypoplasia, ectopia, and agenesis. Agenesis may present as hemiagenesis, bilobar agenesis, or isthmic agenesis.
CANTÜRK, ZEYNEP, Ipci, Özlem, Gürkan, Eren, Cumali, Gokce, Sahin, Zeliha   +4 more
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JAG1 Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China

Miaomiao Li,1,2 Xiaoyu Wang,1,2 Fang Wang,3 Fengqi Wang,1,2 Dehua Zhao,4 Shiguo Liu1,2 1Department of Medical Genetic, the Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China; 2Prenatal Diagnosis Center, the Affiliated Hospital
Wang F, Wang X, Zhao D, Liu S, Li M
core  

Transient neonatal hypothyroidism due to maternal seaweed soup ingestion: a report of 3 cases. [PDF]

JCEM Case Rep
Ilmer S, Lopez-Cabreza V, Salemi P.
europepmc   +1 more source