Browsing by Author "Nicholas, Adeline K."
Now showing items 1-2 of 2
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Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ
Nicholas, Adeline K.; Serra, Eva Goncalves; Cangül, Hakan; Al-Yaarubi, Saif; Ullah, Irfan; Schoenmakers, Erik; Deeb, Asma; Habeb, Abdelhadi M.; Almaghamsi, Mohammad; Peters, Catherine; Nathwani, Nisha; Aycan, Zehra; Sağlam, Halil; Bober, Ece; Dattani, Mehul; Shenoy, Savitha; Murray, Philip G.; Babiker, Amir; Willemsen, Ruben; Thankamony, Ajay; Lyons, Greta; Irwin, Rachael; Padidela, Raja; Tharian, Kavitha; Davies, Justin Huw; Puthi, Vijith; Park, Soo-Mi; Massoud, Ahmed F.; Gregory, John W.; Albanese, Assunta; Pease-Gevers, Evelien; Martin, Howard; Brugger, Kim; Maher, Eamonn R.; Chatterjee, V. Krishna K.; Anderson, Carl A.; Schoenmakers, Nadia (Endocrine Society, 2016)Context: 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 ... -
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
Cangül, Hakan; Liao, Xiao-Hui; Schoenmakers, Erik; Kero, Jukka; Barone, Sharon; Srichomkwun, Panudda; Lwayama, Hideyuki; Serra, Eva G.; Sağlam, Halil; Eren, Erdal; Tarım, Ömer; Nicholas, Adeline K.; Zvetkova, Ilona; Anderson, Carl A.; Frankl, Fiona E. Karet; Boelaert, Kristien; Ojaniemi, Marja; Jaaskelainen, Jarmo; Patyra, Konrad; Lof, Christoffer; Williams, E. Dillwyn; Consortium, Ukk; Soleimani, Manoocher; Barrett, Timothy; Maher, Eamonn R.; Chatterjee, V. Krishna; Refetoff, Samuel; Schoenmakers, Nadia (American Society for Clinical Investigation Inc, 2018)Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show ...
