| Title : A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant - Stern_2022_J.Clin.Res.Pediatr.Endocrinol_14_221 |
| Author(s) : Stern E , Schoenmakers N , Nicholas AK , Kassif E , Hamiel OP , Yeshayahu Y |
| Ref : J Clin Res Pediatr Endocrinol , 14 :221 , 2022 |
| Abstract : |
| PubMedSearch : Stern_2022_J.Clin.Res.Pediatr.Endocrinol_14_221 |
| PubMedID: 33832185 |
| Title : Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation - Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| Author(s) : Vasudevan P , Powell C , Nicholas AK , Scudamore I , Greening J , Park SM , Schoenmakers N |
| Ref : Endocrinol Diabetes Metab Case Rep , 2017 : , 2017 |
| Abstract : |
| PubMedSearch : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| PubMedID: 28620499 |
| Gene_locus related to this paper: human-TG |
| Title : Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ - Nicholas_2016_J.Clin.Endocrinol.Metab_101_4521 |
| Author(s) : Nicholas AK , Serra EG , Cangul H , Alyaarubi S , Ullah I , Schoenmakers E , Deeb A , Habeb AM , Almaghamsi M , Peters C , Nathwani N , Aycan Z , Saglam H , Bober E , Dattani M , Shenoy S , Murray PG , Babiker A , Willemsen R , Thankamony A , Lyons G , Irwin R , Padidela R , Tharian K , Davies JH , Puthi V , Park SM , Massoud AF , Gregory JW , Albanese A , Pease-Gevers E , Martin H , Brugger K , Maher ER , Chatterjee VK , Anderson CA , Schoenmakers N |
| Ref : J Clinical Endocrinology Metab , 101 :4521 , 2016 |
| Abstract : |
| PubMedSearch : Nicholas_2016_J.Clin.Endocrinol.Metab_101_4521 |
| PubMedID: 27525530 |