共 50 条
- [31] Familial hypomagnesaemia-hypercalciuria and nephrocalcinosis in 2 siblings: 2 novel heterozygous mutations in the gene encoding Claudin-16JOURNAL OF BONE AND MINERAL RESEARCH, 2005, 20 (07) : 1295 - 1295Hampson, GMcDonald, DScoble, JKonrad, M
- [32] Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutationsJournal of Nephrology, 2021, 34 : 2053 - 2062Mònica Vall-PalomarCarla BurballaFélix Claverie-MartínAnna MeseguerGema Ariceta
- [33] Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutationsJOURNAL OF NEPHROLOGY, 2021, 34 (06) : 2053 - 2062Vall-Palomar, MonicaBurballa, CarlaClaverie-Martin, FelixMeseguer, AnnaAriceta, Gema
- [34] Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian FamilyCalcified Tissue International, 2024, 114 : 110 - 118Rupesh ThapaAmaresh RoyKaustav NayekAnupam Basu
- [35] Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian FamilyCALCIFIED TISSUE INTERNATIONAL, 2024, 114 (02) : 110 - 118Thapa, RupeshRoy, AmareshNayek, KaustavBasu, Anupam
- [36] A clinical case of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in 7 y.o boy with novel homozygous mutation of the CLDN16 genePEDIATRIC NEPHROLOGY, 2016, 31 (10) : 1807 - 1807Shumikhina, M.Chugunova, O.Gurevich, A.Kanivets, I.Boguslavskaya, M.Konovalov, F.Blokh, S.
- [37] A NOVEL MUTATION OF THE CLAUDIN 16 GENE IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS MIMICKING RICKETSGENETIC COUNSELING, 2011, 22 (02): : 187 - 192Kasapkara, C. S.Tumer, L.Okur, I.Hasanoglu, A.
- [38] A NOVEL MUTATION OF THE CLAUDIN 16 GENE IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS MIMICKING RICKETSJOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S236 - S236Seher, Kasapkara CigdemLeyla, TumerIlyas, OkurAlev, Hasanoglu
- [39] First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese FamilyCalcified Tissue International, 2015, 96 : 265 - 273Tao YuanQianqian PangXiaoping XingXi WangYuhui LiJingjun LiXueyan WuMei LiOu WangYan JiangJin DongWeibo Xia
- [40] First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese FamilyCALCIFIED TISSUE INTERNATIONAL, 2015, 96 (04) : 265 - 273Yuan, TaoPang, QianqianXing, XiaopingWang, XiLi, YuhuiLi, JingjunWu, XueyanLi, MeiWang, OuJiang, YanDong, JinXia, Weibo