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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 & related disorders, ISSN 1353-8020, 02/2019
ADCY5-related hyperkinesia encompasses a heterogeneous group of phenotypes, including paroxysmal chorea, myoclonus, and dystonia. The disease is attributed to... 
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
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 09/2018, Volume 37, Issue 3, p. 221
Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been... 
HSP40 Heat-Shock Proteins - genetics | Humans | Middle Aged | Molecular Chaperones - genetics | Male | Nerve Tissue Proteins - genetics