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Items: 4

1.
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update
Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya
Front Genet. 2020; 11: 580484. Published online 2020 Dec 31. doi: 10.3389/fgene.2020.580484
PMCID:
PMC7806527
AbstractArticlePDF–1.1M
2.
Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia
Jiali Li, Bei Gao, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Xiangming Guo, Qingjiong Zhang
Mol Vis. 2016; 22: 161–167. Published online 2016 Feb 20.
PMCID:
PMC4764606
AbstractArticlePDF–3.0M
3.
Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice
Jian Zhang, Rui Yang, Ziyi Liu, Congzhe Hou, Wen Zong, Aizhen Zhang, Xiaoyang Sun, Jiangang Gao
Hum Mol Genet. 2015 Nov 1; 24(21): 6174–6185. Published online 2015 Aug 24. doi: 10.1093/hmg/ddv333
PMCID:
PMC4599675
AbstractArticlePDF–2.2M
4.
Cloning and characterization of a fourth human lysyl oxidase isoenzyme.
J M Mäki, K I Kivirikko
Biochem J. 2001 Apr 15; 355(Pt 2): 381–387. doi: 10.1042/0264-6021:3550381
PMCID:
PMC1221749
SummaryPDF–288K

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