Results 91 to 100 of about 926,075 (161)

Does Congenital Hypothyroidism Have Different Etiologies in Iran? [PDF]

, 2011
Objective: To determine the prevalence of congenital hypothyroidism (CH), permanent and transient CH. Methods: From November 2006 to September 2007, 63031 newborns were screened by measuring serum TSH obtained by heel prick.
Amirhakimi, Gholamhossein, Mohammadi, Hamid, Sanei-far, Heidyeh, Dalili, Setillia, Karamizadeh, Zohre, Karamifard, Hamdollah   +5 more
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Congenital hypothyroidism: information for parents

, 2013
"08/22/13.""Congenital hypothyroidism (CH) is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism ...
Kansas Newborn Screening Program
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UvA-DARE (Digital Academic Repository) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism Link to publication Citation for published version (APA): INACTIVATING MUTATIONS IN THE GENE FOR THYROID OXIDASE 2 ( THOX

, 2020
. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. The New England journal of medicine, 347(2), 95-102.
Mutations, Congenital
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Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Werdnig-Hoffmann disease with congenital hypothyroidism

, 2003
Congenital hypothyroidism is often associated with other congenital anomalies. In some instances it is difficult to differentiate congenital hypothyroidism from Werdnig-Hoffmann's disease.
Kurtoglu, Selim, Kumandaş, Sefer, Akçakuş, Mustafa, Çetin, Neşide, Güneş, Tamer   +4 more
core   +1 more source

Congenital Hypothyroidism with Gland-in-situ - supplemental material

, 2022
Congenital Hypothyroidism with Gland-in-situ - supplemental ...
Levaillant, Lucie
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Prevalence of permanent primary congenital hypothyroidism in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1995
The purpose of this study was to find the prevalence of permanent primary congenital hypothyroidism in Taiwan. From January 1988 to December 1990, there were 991,132 live births in Taiwan. Of these, 329,891 neonates were screened for primary congenital hypothyroidism.
W Y, Tsai, J S, Lee, M C, Chao, L Y, Chen, S J, Lin, K H, Wu, T R, Wang, J S, Chen, S M, Chuang   +8 more
openaire   +1 more source

6987 Whole exome sequencing for permanent congenital hypothyroidism

Journal of the Endocrine Society
Abstract Disclosure: J. Ahn: None. H. Jeong: None. Background: Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis. Little information is available regarding the genetic heterogeneity of CH in Koreans.
Ahn, J, Jeong, H
openaire   +1 more source

R434X Mutation in Dual Oxidase 2 Gene among Patients with Permanent and Transient Congenital Hypothyroidism

مجله دانشکده پزشکی اصفهان, 2012
Background: The prevalence of congenital hypothyroidism (CH) is high in Isfahan (Iran). Considering the high rate of parental consanguinity and the role of dual oxidase 2 (DUOX2) gene in transient and permanent CH due to thyroid dyshormonogenesis, the ...
Omid Khoshnoud, Mohammad Hassan Tajaddini, Mahin Hashemipour, Mansour Salehi, Awat Feizi, Shaghayegh Haghjooy Javanmard, Roya Kelishadi, Silva Hovsepian, Masoud Amini   +8 more
doaj  

Efeito do T3 reverso sobre o estresse oxidativo induzido pelo hipotireoidismo congênito em hipocampo de ratos imaturos: envolvimento de mecanismos não genômicos [PDF]

, 2014
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Farmácia, Florianópolis, 2014.Abstract : Congenital hypothyroidism can lead to a variety of neurochemical and morphophysiological ...
Domingues, Juliana Tonietto
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