PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Endocrinology and Metabolism10.3803/enm.2018.33.3.3802018333380Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant OsteopetrosisSeon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yihttps://synapse.koreamed.org/pdf/10.3803/EnM.2018.33.3.380, https://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2018.33.3.380, https://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2018.33.3.380
Osteoporosis International10.1007/s00198-015-3320-x20152731047-1055Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patientsQ. Pang, Y. Chi, Z. Zhao, X. Xing, M. Li, O. Wang, Y. Jiang, R. Liao, Y. Sun, J. Dong, W. Xiahttp://link.springer.com/content/pdf/10.1007/s00198-015-3320-x.pdf, http://link.springer.com/article/10.1007/s00198-015-3320-x/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00198-015-3320-x, http://link.springer.com/content/pdf/10.1007/s00198-015-3320-x.pdf
Bone Reports10.1016/j.bonr.2020.100657202013100657Transcriptome analysis reveals potential biomarkers of CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2 (ADO2)Iona Norwood, Denis Szondi, Nadia Rucci, Anna Teti, Antonio Maurizihttps://api.elsevier.com/content/article/PII:S2352187220304174?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2352187220304174?httpAccept=text/plain
Molecular Therapy - Nucleic Acids10.1038/mtna.2015.2120154e248Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2Mattia Capulli, Antonio Maurizi, Luca Ventura, Nadia Rucci, Anna Tetihttps://api.elsevier.com/content/article/PII:S2162253116300348?httpAccept=text/plain, https://api.elsevier.com/content/article/PII:S2162253116300348?httpAccept=text/xml
Rheumatology International10.1007/s00296-002-0200-42002223116-118Type II autosomal dominant osteopetrosisKazim Senel, Mahir Ugur, Akin Erdal, Hasan Özdemirhttp://link.springer.com/content/pdf/10.1007/s00296-002-0200-4.pdf, http://link.springer.com/article/10.1007/s00296-002-0200-4/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00296-002-0200-4
Skeletal Radiology10.1007/s0025600504301998279515-517Slipped capital femoral epiphysis in a patient with type II autosomal dominant osteopetrosisJ. R. Cooper, A. Sprigghttp://link.springer.com/content/pdf/10.1007/s002560050430.pdf, http://link.springer.com/article/10.1007/s002560050430/fulltext.html, http://link.springer.com/content/pdf/10.1007/s002560050430
Bone10.1016/j.bone.2012.08.0432012516S14Insertion of the clcn7 gene mutation pG213R in mouse induces autosomal dominant osteopetrosis type II (ADO2)A. Del Fattore, A.K. Gray, S. Ichikawa, K. Chu, K.S. Mohammad, M. Capannolo, A. Teti, M.J. Econs, I. Alamhttps://api.elsevier.com/content/article/PII:S8756328212010575?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S8756328212010575?httpAccept=text/plain
Joint Bone Spine10.1016/j.jbspin.2013.06.0142014812188-189Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type IIHui Zheng, Zeng Zhang, Jin-Wei He, Wen-Zhen Fu, Chun Wang, Zhen-Lin Zhanghttps://api.elsevier.com/content/article/PII:S1297319X1300184X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1297319X1300184X?httpAccept=text/plain
Journal of Bone and Mineral Research10.1359/jbmr.2003.18.8.151320031881513-1518Chloride Channel 7 (ClCN7) Gene Mutations and Autosomal Dominant Osteopetrosis, Type IISteven G Waguespack, Daniel L Koller, Kenneth E White, Tonya Fishburn, Gwenaelle Carn, Kenneth A Buckwalter, Michelle Johnson, Maureen Kocisko, Wayne E Evans, Tatiana Foroud, Michael J Econshttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1359%2Fjbmr.2003.18.8.1513, https://onlinelibrary.wiley.com/doi/full/10.1359/jbmr.2003.18.8.1513
Bone Research10.1038/boneres.2016.35201641Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7Xiang Chen, Kun Zhang, Janet Hock, Chunyu Wang, Xijie Yuhttp://www.nature.com/articles/boneres201635.pdf, http://www.nature.com/articles/boneres201635, http://www.nature.com/articles/boneres201635.pdf