PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Archives of Oral Biology10.1016/j.archoralbio.2006.08.0072007522101-109Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disordersP.J. De Coster, M. Cornelissen, A. De Paepe, L.C. Martens, A. Vralhttps://api.elsevier.com/content/article/PII:S0003996906002317?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0003996906002317?httpAccept=text/plain
Neuromuscular Disorders10.1016/j.nmd.2017.06.078201727S112-S113Novel compound heterozygous mutations in PLEC gene causing epidermolysis bullosa simplex with muscular dystrophy, case series of two affected sistersI. Lee, A. Hurst, B. Wong, C. Tianhttps://api.elsevier.com/content/article/PII:S096089661730651X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S096089661730651X?httpAccept=text/plain
Endocrinology and Metabolism10.3803/enm.2020.35.1.64202035164RarePTHGene Mutations Causing Parathyroid Disorders: A ReviewJoon-Hyop Lee, Munkhtugs Davaatseren, Sihoon Leehttps://synapse.koreamed.org/pdf/10.3803/EnM.2020.35.1.64, https://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2020.35.1.64, https://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2020.35.1.64
Neuromuscular Disorders10.1016/j.nmd.2009.06.0612009198-9562G.P.3.03 Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscleR. McFarland, H. Tuppen, L. He, E.L. Blakely, A.A.M. Morris, M. Clarke, S. Jones, A.M. Devlin, R.W. Taylorhttps://api.elsevier.com/content/article/PII:S0960896609002181?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896609002181?httpAccept=text/plain
Neuromuscular Disorders10.1016/j.nmd.2019.06.403201929S151P.289Precise gene editing of LGMD2A causing mutationsS. Muethel, H. Escobar Fernandez, S. Spulerhttps://api.elsevier.com/content/article/PII:S0960896619307916?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896619307916?httpAccept=text/plain
Lung Cancer10.1016/0169-5002(94)93864-419941124Characterization of the 3′ splicing pattern of parathyroid hormone-related peptide (PTH-rP) and the expression of the PTH-rP gene and the PTH/PTH-rP receptor gene in human lung cancerN. Hidaka, T. Onouchi, T. Horiuchi, Y. Hidakahttps://api.elsevier.com/content/article/PII:0169500294938644?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:0169500294938644?httpAccept=text/plain
Frontiers of Hormone Research10.1159/0004910452018147-159Inactivating PTH/PTHrP Signaling DisordersGiovanna Mantovani, Francesca M. Ellihttps://www.karger.com/Article/Pdf/491045
Biochemical and Biophysical Research Communications10.1006/bbrc.2001.558620012872313-322Parathyroid Hormone (PTH) Suppresses Rat PTH/PTH-Related Protein Receptor Gene PromoterTetsuya Kawane, Junsei Mimura, Yoshiaki Fujii-Kuriyama, Noboru Horiuchihttps://api.elsevier.com/content/article/PII:S0006291X0195586X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0006291X0195586X?httpAccept=text/plain
BMC Endocrine Disorders10.1186/1472-6823-7-8200771Mitochondrial DNA mutations in oxyphilic and chief cell parathyroid adenomasJessica Costa-Guda, Takehiko Tokura, Sanford I Roth, Andrew Arnoldhttp://link.springer.com/content/pdf/10.1186/1472-6823-7-8.pdf, http://link.springer.com/article/10.1186/1472-6823-7-8/fulltext.html, http://link.springer.com/content/pdf/10.1186/1472-6823-7-8, https://link.springer.com/content/pdf/10.1186/1472-6823-7-8.pdf
Movement Disorders10.1002/mds.236662011263379-379One beginning, many ends: Mutations in one gene causing varied clinical entitiesAndrew B. Singletonhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23666, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23666, http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23666/fullpdf