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Genetic causes and neonatal diagnosis of congenital isolated central hypothyroidism

Autor: Heinen, Charlotte A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::8839541a08b3841b1401c04ea4771734
https://pure.amc.nl/en/publications/genetic-causes-and-neonatal-diagnosis-of-congenital-isolated-central-hypothyroidism(8e4c4f22-8ec5-4717-9b6f-b423100e5b90).html

Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism

Autor: Heinen, Charlotte, Losekoot, Monique, Sun, Yu, Watson, Peter, Fairall, Louise, Joustra, Sjoerd, Zwaveling-Soonawala, Nitash, Oostdijk, Wilma, Den Akker, Erica, Gijs Santen, Rijn, Rick, Dreschler, Wouter, Surovtseva, Olga, Biermasz, Nienke, Hennekam, Raoul, Wit, Jan, Schwabe, John, Boelen, Anita, Fliers, Eric, Trotsenburg, Paul

Publikováno v: Web of Science
Hormone Research in Paediatrics, 86, 55-55

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5b56dde42d500b6d3a560fedfb7d5550
https://hdl.handle.net/1887/113957

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A specific mutation in TBL1XR1 causes Pierpont syndrome

Autor: Heinen, Charlotte A., Jongejan, Aldo, Watson, Peter J., Redeker, Bert, Boelen, Anita, Boudzovitch-Surovtseva, Olga, Forzano, Francesca, Hordijk, Roel, Kelley, Richard, Olney, Ann H., Pierpont, Mary Ella, Schaefer, G. Bradley, Stewart, Fiona, van Trotsenburg, A. S. Paul, Fliers, Eric, Schwabe, John W. R., Hennekam, Raoul C.

Publikováno v: JOURNAL OF MEDICAL GENETICS, 53(5), 330-337. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of medical genetics, 53(5), 330-337. BMJ Publishing Group

Background The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause of Pierpont syndro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::70f50c02a7ec0a5173e8b035b1377226
https://research.rug.nl/en/publications/8e860c60-83b4-4c05-8cea-f17d0e7637dc