Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: Cleidocranial Dysplasia[original query] |
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Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2002 Aug 17 (8): 1527-34. Vaughan Tanya, Pasco Julie A, Kotowicz Mark A, Nicholson Geoff C, Morrison Nigel |
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human mutation 2010 Aug 31 (8): E1587-93. Ott Claus E, Leschik Gundula, Trotier Fabienne, Brueton Louise, Brunner Han G, Brussel Wim, Guillen-Navarro Encarna, Haase Claudia, Kohlhase Juergen, Kotzot Dieter, Lane Andrew, Lee-Kirsch Min Ae, Morlot Susanne, Simon Marleen E H, Steichen-Gersdorf Elisabeth, Tegay David H, Peters Hartmut, Mundlos Stefan, Klopocki E |
Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women. Journal of bone and mineral metabolism 2010 Nov 28 (6): 696-705. Pineda Begoña, Hermenegildo Carlos, Laporta Paz, Tarín Juan J, Cano Antonio, García-Pérez Miguel Áng |
A novel 18-bp in-frame deletion mutation in RUNX2 causes cleidocranial dysplasia. Archives of oral biology 2017 11 96 243-248. Zeng Li, Wei Jiahui, Zhao Na, Sun Shichen, Wang Yixiang, Feng Hail |
A novel gene mutation of Runx2 in cleidocranial dysplasia. Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban 2017 10 37 (5): 772-776. Peng You-Jian, Chen Qiao-Yun, Fu Dong-Jie, Liu Zhi-Ming, Mao Tian-Tian, Li Jun, She Wen-Ti |
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet journal of rare diseases 2021 7 16 (1): 297. Kamil Gilyazetdinov, Yoon Ju Young, Yoo Sukdong, Cheon Chong K |
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia. Iranian biomedical journal 2021 7 25 (4): 297-302. Jamali Ebrahim, Khalesi Raziyeh, Bitarafan Fatemeh, Almadani Navid, Garshasbi Maso |
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