Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Adeline K. Nicholas"'
Autor:
Eve Stern, Nadia Schoenmakers, Adeline K. Nicholas, Eran Kassif, Orit Pinhas Hamiel, Yonatan Yeshayahu
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 221-226 (2022)
Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the thyroglobulin gene (TG) a
Externí odkaz:
https://doaj.org/article/a5779d85baa3427090de90f840d39211
Autor:
Aslam Shiraz, Nagayasu Egawa, Daniël M. Pelt, Robin Crawford, Adeline K. Nicholas, Veronika Romashova, Peter Sasieni, Heather Griffin, John Doorbar
Publikováno v:
EBioMedicine, Vol 82, Iss , Pp 104157- (2022)
Summary: Background: Primary HPV screening, due to its low specificity, requires an additional liquid-based cytology (LBC) triage test. However, even with LBC triage there has been a near doubling in the number of patients referred for colposcopy in
Externí odkaz:
https://doaj.org/article/d0730386696d4a3ea2475e99548ec729
Autor:
Nikolina Zdraveska, Mirjana Kocova, Adeline K. Nicholas, Violeta Anastasovska, Nadia Schoenmakers
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Neonatal screening in Macedonia detects congenital hypothyroidism (CH) with an incidence of 1 in 1,585, and more than 50% of cases exhibit a normally located gland-in-situ (GIS). Monogenic mutations causing dyshormonogenesis may underlie GIS CH; addi
Externí odkaz:
https://doaj.org/article/39695879f4994480b45cb39e822b7ee6
Autor:
Adeline K Nicholas, Eran Kassif, Nadia Schoenmakers, Orit Pinhas Hamiel, Eve Stern, Yonatan Yeshayahu
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 14:221-226
Congenital Hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the Thyroglobulin gene (TG) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e8e425ae53dd25a20f191e7d164c53
https://doi.org/10.4274/jcrpe.galenos.2021.2020.0278
https://doi.org/10.4274/jcrpe.galenos.2021.2020.0278
Autor:
Harsh Durgia, Sadishkumar Kamalanathan, Erik Schoenmakers, Dhanapathi Halanaik, Jennifer A. Dickens, Jayaprakash Sahoo, Adeline K Nicholas, Nadia Schoenmakers
Publikováno v:
Thyroid. 32:215-218
The sodium-iodide symporter (NIS, SLC5A5) is expressed at the basolateral membrane of the thyroid follicular cell, and facilitates the thyroidal iodide uptake required for thyroid hormone biosynthesis. Biallelic loss-of-function mutations in NIS are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ead510851dff7b68ad4995b86ec133
https://doi.org/10.1089/thy.2021.0478
https://doi.org/10.1089/thy.2021.0478
Autor:
Nadia Schoenmakers, Erik Schoenmakers, Catherine Peters, Shirley Langham, Neil J. Sebire, Eva Goncalves Serra, Marina Muzza, Adeline K Nicholas, Greta Lyons, Laura Fugazzola
Publikováno v:
Thyroid
Background: The etiology, course, and most appropriate management of borderline congenital hypothyroidism (CH) are poorly defined, such that the optimal threshold for diagnosis with bloodspot screening thyrotropin (bsTSH) measurement remains controve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ad5eb73041b937fd42f74707b87ea6
http://europepmc.org/articles/PMC6588112
http://europepmc.org/articles/PMC6588112
Publikováno v:
Hormone Research in Paediatrics. 92:340-344
Introduction: Heterozygous mutations or haploinsufficiency of NKX2-1 are associated with the brain-lung-thyroid syndrome incorporating primary hypothyroidism, respiratory distress, and neurological disturbances. Case Presentation: We report a patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91c75bc568549b88a6ff0dbd3bde0aff
https://doi.org/10.1159/000503683
https://doi.org/10.1159/000503683
Autor:
Peters C, Adeline K Nicholas, Lyons G, Fugazzola L, Erik Schoenmakers, Muzza M, Eva Goncalves Serra, Sebire Nj, Nadia Schoenmakers, Langham S
Publikováno v:
Yearbook of Paediatric Endocrinology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1b52472b4cc6973f3597023b6d577a2
https://doi.org/10.1530/ey.17.3.7
https://doi.org/10.1530/ey.17.3.7
Autor:
Nadia Schoenmakers, Nikolina Zdraveska, Violeta Anastasovska, Mirjana Kocova, Adeline K Nicholas
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 11 (2020)
Frontiers in Endocrinology, Vol 11 (2020)
Neonatal screening in Macedonia detects congenital hypothyroidism (CH) with an incidence of 1 in 1,585, and more than 50% of cases exhibit a normally located gland-in-situ (GIS). Monogenic mutations causing dyshormonogenesis may underlie GIS CH; addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e1e519d299f0e90339aa7b730b188a
http://europepmc.org/articles/PMC7381236
http://europepmc.org/articles/PMC7381236
Autor:
aaskelainen J, Erik Schoenmakers, Ilona Zvetkova, Sharone Barone, Ömer Tarım, Christoffer Löf, Liao Xh, Jukka Kero, Nadia Schoenmakers, Hakan Cangul, Eva Goncalves Serra, Eamonn R. Maher, Konrad Patyra, Panudda Srichomkwun, Kristien Boelaert, Halil Saglam, Frankl Fek, Adeline K Nicholas, Samuel Refetoff, ren E, Manoocher Soleimani, Hideyuki Iwayama, Carl A. Anderson, Williams Ed, Timothy Barrett, V. K. K. Chatterjee, Marja Ojaniemi
Publikováno v:
Yearbook of Paediatric Endocrinology.
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 that goitrous hypothyroidis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9506838af7edba2b7760a75226d41c01
https://doi.org/10.1530/ey.16.3.11
https://doi.org/10.1530/ey.16.3.11