Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ | Zendy

Adeline K. Nicholas | Zendy; Eva Serra | Zendy; Hakan Cangül | Zendy; Saif Al-Yaarubi | Zendy; Irfan Ullah | Zendy; Erik Schoenmakers | Zendy; Asma Deeb | Zendy; Abdelhadi Habeb | Zendy; Mohammad S. Al-Maghamsi | Zendy; Catherine Peters | Zendy; Nisha Nathwani | Zendy; Zehra Aycan | Zendy; Halil Sağlam | Zendy; Ece Böber | Zendy; Mehul Dattani | Zendy; Savitha Shenoy | Zendy; Philip Murray | Zendy; Amir Babiker | Zendy; Ruben H. Willemsen | Zendy; Ajay Thankamony | Zendy; Greta Lyons | Zendy; Rachael Irwin | Zendy; Raja Padidela | Zendy; Kavitha Tharian | Zendy; Justin H. Davies | Zendy; Vijith Puthi | Zendy; SooMi Park | Zendy; Ahmed F. Massoud | Zendy; John W Gregory | Zendy; Assunta Albanese | Zendy; Evelien Pease-Gevers | Zendy; Howard Martin | Zendy; Kim Brügger | Zendy; Eamonn R. Maher | Zendy; Krishna Chatterjee | Zendy; Carl A. Anderson | Zendy; Nadia Schoenmakers | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Author(s) -

Adeline K. Nicholas,

Eva Serra,

Hakan Cangül,

Saif Al-Yaarubi,

Irfan Ullah,

Erik Schoenmakers,

Asma Deeb,

Abdelhadi Habeb,

Mohammad S. Al-Maghamsi,

Catherine Peters,

Nisha Nathwani,

Zehra Aycan,

Halil Sağlam,

Ece Böber,

Mehul Dattani,

Savitha Shenoy,

Philip Murray,

Amir Babiker,

Ruben H. Willemsen,

Ajay Thankamony,

Greta Lyons,

Rachael Irwin,

Raja Padidela,

Kavitha Tharian,

Justin H. Davies,

Vijith Puthi,

SooMi Park,

Ahmed F. Massoud,

John W Gregory,

Assunta Albanese,

Evelien Pease-Gevers,

Howard Martin,

Kim Brügger,

Eamonn R. Maher,

Krishna Chatterjee,

Carl A. Anderson,

Nadia Schoenmakers

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-1879

Subject(s) - in silico , congenital hypothyroidism , mutation , etiology , genetics , genetic heterogeneity , gene , biology , phenotype , medicine , thyroid

Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research