PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
The Korean Journal of Internal Medicine10.3904/kjim.2009.24.3.2742009243274A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella SyndromeJoo Ho Ham, Seok Joon Shin, Kyu Re Joo, Sung Min Park, Hye Young Sung, Joong Seok Kim, Jin Soo Choi, Yeong Jin Choi, Ho Cheol Song, Eui Jin Choihttp://synapse.koreamed.org/pdf/10.3904/kjim.2009.24.3.274, http://synapse.koreamed.org/DOIx.php?id=10.3904/kjim.2009.24.3.274, http://www.kjim.org/upload/kjim-24-274.pdf
Development, Growth & Differentiation10.1111/j.1440-169x.2008.01083.x2009513241-250Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate developmentJin-Xia Dai, Randy L. Johnson, Yu-Qiang Dinghttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1440-169X.2008.01083.x
Atlas of Genetic Diagnosis and Counseling10.1007/978-1-4614-6430-3_172-220161-10Nail-Patella SyndromeHarold Chenhttp://link.springer.com/content/pdf/10.1007/978-1-4614-6430-3_172-2
Atlas of Genetic Diagnosis and Counseling10.1007/978-1-4939-2401-1_17220172033-2041Nail-Patella SyndromeHarold Chenhttp://link.springer.com/content/pdf/10.1007/978-1-4939-2401-1_172
Pediatric Nephrology10.1007/s00467-016-3462-x201632101845-1850Spectrum of LMX1B mutations: from nail–patella syndrome to isolated nephropathyYutaka Harita, Sachiko Kitanaka, Tsuyoshi Isojima, Akira Ashida, Motoshi Hattorihttp://link.springer.com/article/10.1007/s00467-016-3462-x/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00467-016-3462-x.pdf, http://link.springer.com/content/pdf/10.1007/s00467-016-3462-x, http://link.springer.com/content/pdf/10.1007/s00467-016-3462-x.pdf
Human Mutation10.1002/humu.12172001185458-458Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patientsJeanette D. Hamlington, Cheron Jones, Iain McIntoshhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1217, https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1217
Nature Genetics10.1038/ng0598-51199819151-55Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndromeHaixu Chen, Yi Lun, Dmitry Ovchinnikov, Hiroki Kokubo, Kerby C. Oberg, Carmen V. Pepicelli, Lin Can, Brendan Lee, Randy L. Johnsonhttp://www.nature.com/articles/ng0598-51, http://www.nature.com/articles/ng0598-51.pdf, http://www.nature.com/articles/ng0598-51.pdf
European Journal of Human Genetics10.1038/sj.ejhg.5200448200084311-314Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndromeJeanette D Hamlington, Mark V Clough, Jennifer A Dunston, Iain McIntoshhttp://www.nature.com/articles/5200448.pdf, http://www.nature.com/articles/5200448, http://www.nature.com/articles/5200448.pdf
Bone10.1016/j.bone.2008.04.0252008433591-595A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese familyYing Lin, Juan Zhao, Shipei Chen, Xuebin Zeng, Qiong Du, Yang Yang, Fang Lu, Yonghong Pu, Zhenglin Yanghttps://api.elsevier.com/content/article/PII:S875632820800224X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S875632820800224X?httpAccept=text/plain
Journal of Dermatological Science10.1016/j.jdermsci.2008.04.014200852158-60A novel LMX1B nonsense mutation in a family with nail-patella syndromeTomoko Oshimo, Kazuyoshi Fukai, Nobuhiko Higashi, Toshio Kitano, Yuuki Imai, Haruo Shintaku, Masamitsu Ishiihttps://api.elsevier.com/content/article/PII:S0923181108001515?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0923181108001515?httpAccept=text/plain