Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Disease and SHOX[original query] |
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| Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. Journal of medical genetics 2009 Dec 46 (12): 834-9. Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum W F, Rappold |
| Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. The Journal of clinical endocrinology and metabolism 2010 Jun 95 (6): 3010-8. D'haene Barbara, Hellemans Jan, Craen Margarita, De Schepper Jean, Devriendt Koen, Fryns Jean-Pierre, Keymolen Kathelijn, Debals Eveline, de Klein Annelies, de Jong Elisabeth M, Segers Karin, De Paepe Anne, Mortier Geert, Vandesompele Jo, De Baere Elfri |
| Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature. Korean journal of pediatrics 2017 11 60 (10): 327-332. Alharthi Abdulla A, El-Hallous Ehab I, Talaat Iman M, Alghamdi Hamed A, Almalki Matar I, Gaber Ahm |
| High frequency of intermediate and poor risk copy number abnormalities in pediatric cohort of B-ALL correlate with high MRD post induction. Leukemia research 2018 2 66 79-84. Singh Minu, Bhatia Prateek, Trehan Amita, Varma Neelam, Sachdeva Manupdesh Singh, Bansal Deepak, Jain Richa, Naseem Sha |
| Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome. Bioscience reports 2018 12 39 (1): . Li Li, Li Qingfeng, Wang Qiong, Liu Li, Li Ru, Liu Huishu, He Yaojuan, Lash Gendie |
| Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature. Genes 2021 10 12 (10): . Stritar Jera, Stavber Lana, Ficko Maja, Kotnik Primož, Battelino Tadej, Trebušak Podkrajšek Katarina, Hovnik Tin |
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