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Bone, ISSN 8756-3282, 08/2019, Volume 125, pp. 186 - 193
X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the gene and is the most common form of hereditary rickets. The splice-site... 
Phenotype-genotype correlation | Splice-site mutation | Hypophosphatemic rickets | PHEX | RNA splicing | DEFECTS | SEQUENCE | ENDOCRINOLOGY & METABOLISM | PEX GENE | Genetic research | Genetic aspects | Rickets | RNA | Analysis | Genes
Journal Article
Laboratory Investigation, ISSN 0023-6837, 01/2016, Volume 96, Issue 1, pp. 89 - 97
  Papillary thyroid carcinoma (PTC) accounts for >80% thyroid malignancies, and BRAFV600E mutation is frequently found in >40% PTC. Interleukin-12 (IL-12) is a... 
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 07/2019, Volume 64, pp. 145 - 149
ADCY5-related hyperkinesia encompasses a heterogeneous group of phenotypes, including paroxysmal chorea, myoclonus, and dystonia. The disease is attributed to... 
Adenylyl cyclase 5 | Autosomal recessive | Phenotype | Myoclonus | Genotype | Dystonia | Mutation | ADCY5 | Medical research | Enzymes | Medicine, Experimental | Genetic research | Anxiety
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 07/2014, Volume 81, Issue 1, pp. 109 - 116
1[alpha], 25(OH).sub.2D.sub.3 (calcitriol), the active form of vitamin D, has been shown to exert antiproliferative effects in many cancers. Overexpression of... 
Carcinoma | Cytochrome P-450 | Calcifediol | Development and progression | Gene expression | Thyroid cancer | Vitamin D | Analysis | Genetic research | Genetic aspects | Alfacalcidol | Nucleotide sequencing | DNA sequencing | Cancer
Journal Article
Laboratory Investigation, ISSN 0023-6837, 01/2016, Volume 96, Issue 1, pp. 89 - 97
Papillary thyroid carcinoma (PTC) accounts for >80% thyroid malignancies, and BRAF super(V600E) mutation is frequently found in >40% PTC. Interleukin-12... 
Journal Article
Human genomics, ISSN 1479-7364, 12/2017, Volume 11, Issue 1, pp. 33 - 33
After publication of the article [1], it has been brought to our attention that there is a nomenclature issue with this article. At the time of acceptance, the... 
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Journal Article
by Horikoshi, Momoko and Yaghootkar, Hanieh and Mook-Kanamori, Dennis O and Sovio, Ulla and Taal, H. Rob and Hennig, Branwen J and Bradfield, Jonathan P and St Pourcain, Beate and Evans, David M and Charoen, Pimphen and Kaakinen, Marika and Cousminer, Diana L and Lehtimaki, Terho and Kreiner-Moller, Eskil and Warrington, Nicole M and Bustamante, Mariona and Feenstra, Bjarke and Berry, Diane J and Thiering, Elisabeth and Pfab, Thiemo and Barton, Sheila J and Shields, Beverley M and Kerkhof, Marjan and van Leeuwen, Elisa and Fulford, Anthony J and Kutalik, Zoltan and Zhao, Jing Hua and den Hoed, Marcel and Mahajan, Anubha and Lindi, Virpi and Goh, Liang-Kee and Hottenga, Jouke-Jan and Wu, Ying and Raitakari, Olli T and Harder, Marie N and Meirhaeghe, Aline and Ntalla, Ioanna and Salem, Rany M and Jameson, Karen A and Zhou, Kaixin and Monies, Dorota M and Lagou, Vasiliki and Kirin, Mirna and Heikkinen, Jani and Adair, Linda S and Alkuraya, Fowzan S and Al-Odaib, Ali and Amouyel, Philippe and Andersson, Ehm Astrid and Bennett, Amanda J and Blakemore, Alexana I. F and Buxton, Jessica L and Dallongeville, Jean and Das, Shikta and de Geus, Eco J. C and Estivill, Xavier and Flexeder, Claudia and Froguel, Philippe and Geller, Frank and Godfrey, Keith M and Gottrand, Frederic and Groves, Christopher J and Hansen, Torben and Hirschhorn, Joel N and Hofman, Albert and Hollegaard, Mads V and Hougaard, David M and Hyppoenen, Elina and Inskip, Hazel M and Isaacs, Aaron and Jorgensen, Torben and Kanaka-Gantenbein, Christina and Kemp, John P and Kiess, Wieland and Kilpelainen, Tuomas O and Klopp, Norman and Knight, Bridget A and Kuzawa, Christopher W and McMahon, George and Newnham, John P and Niinikoski, Harri and Oostra, Ben A and Pedersen, Louise and Postma, Dirkje S and Ring, Susan M and Rivadeneira, Fernando and Robertson, Neil R and Sebert, Sylvain and Simell, Olli and Slowinski, Torsten and Tiesler, Carla M. T and Toenjes, Anke and Vaag, Allan and Viikari, Jorma S and Vink, Jacqueline M and Vissing, Nadja Hawwa and Wareham, Nicholas J and Willemsen, Gonneke and Witte, Daniel R and Zhang, Haitao and ... and Early Growth Genetics EGG and MAGIC and Early Growth Genetics (EGG) Consortium and Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC) and The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC)
Nature Genetics, ISSN 1061-4036, 01/2013, Volume 45, Issue 1, pp. 76 - 82
Journal Article