Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 12 (of 12 Records) |
Query Trace: Osteomalacia[original query] |
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Lack of association between vitamin D receptor gene polymorphism (BsmI) and osteomalacia. Journal of bone and mineral metabolism 2004 22 (1): 39-43. Kahraman Hakki, Duman Belgin Süsleyici, Alagöl Faruk, Tanakol Refik, Yilmazer Sel |
Polymorphisms at the ligand binding site of the vitamin D receptor gene and osteomalacia. Disease markers 2005 21 (4): 191-7. Ak Duygu Gezen, Kahraman Hakkí, Dursun Erdinç, Duman Belgin Süsleyici, Erensoy Nevin, Alagöl Faruk, Tanakol Refik, Yilmazer Sel |
Bone mineral density and calcium metabolism in adolescents with beta-thalassemia major. Pediatric endocrinology reviews : PER 2008 Oct 6 Suppl 1 132-5. Tantawy Azza A, El Kholy Mohamed, Moustafa Tarek, Elsedfy Heba |
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal of the American Society of Nephrology : JASN 2014 Oct 25 (10): 2366-75. Dasgupta Debayan, Wee Mark J, Reyes Monica, Li Yuwen, Simm Peter J, Sharma Amita, Schlingmann Karl-Peter, Janner Marco, Biggin Andrew, Lazier Joanna, Gessner Michaela, Chrysis Dionisios, Tuchman Shamir, Baluarte H Jorge, Levine Michael A, Tiosano Dov, Insogna Karl, Hanley David A, Carpenter Thomas O, Ichikawa Shoji, Hoppe Bernd, Konrad Martin, Sävendahl Lars, Munns Craig F, Lee Hang, Jüppner Harald, Bergwitz Cleme |
Vitamin D Receptor (VDR) Gene Polymorphisms (FokI, BsmI) and their Relation to Vitamin D Status in Pediatrics ßeta Thalassemia Major. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2016 Jun 32 (2): 228-38. Elhoseiny Shereen Mohamed, Morgan Dalia Saber, Rabie Asmaa Mohamed, Bishay Samer Tharw |
Osteomalacia induced by long-term low-dose adefovir dipivoxil: Clinical characteristics and genetic predictors. Bone 2016 Sep 93 97-103. Wei Zhe, He Jin-Wei, Fu Wen-Zhen, Zhang Zhen-L |
Genetic analysis of adults heterozygous for ALPL mutations. Journal of bone and mineral metabolism 2017 12 36 (6): 723-733. Taillandier Agnès, Domingues Christelle, Dufour Annika, Debiais Françoise, Guggenbuhl Pascal, Roux Christian, Cormier Catherine, Cortet Bernard, Porquet-Bordes Valérie, Coury Fabienne, Geneviève David, Chiesa Jean, Colin Thierry, Fletcher Elaine, Guichet Agnès, Javier Rose-Marie, Laroche Michel, Laurent Michael, Lausch Ekkehart, LeHeup Bruno, Lukas Cédric, Schwabe Georg, van der Burgt Ineke, Muti Christine, Simon-Bouy Brigitte, Mornet Etien |
Targeted resequencing of phosphorus metabolism?related genes in 86 patients with hypophosphatemic rickets/osteomalacia. International journal of molecular medicine 2018 6 42 (3): 1603-1614. Gu Jiemei, Wang Chun, Zhang Hao, Yue Hua, Hu Weiwei, He Jinwei, Fu Wenzhen, Zhang Zhenl |
The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia. Journal of endocrinological investigation 2020 Jul . Jiang Y, Li X, Feng J, Li M, Wang O, Xing X-P, Xia W |
Follow-Up of Adefovir Dipivoxil Induced Osteomalacia: Clinical Characteristics and Genetic Predictors. Frontiers in pharmacology 2021 5 12 636352. Zhao Jiao, Feng Wei-Guang, Wei Zhe, Zhou Jian, Chen Xiao-Yun, Zhang Zhen-L |
The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture. The Journal of clinical endocrinology and metabolism 2022 1 107 (5): e1890-e1898. Furukawa Hiroshi, Oka Shomi, Kondo Naoki, Nakagawa Yasuaki, Shiota Naofumi, Kumagai Kenji, Ando Keiji, Takeshita Tsutao, Oda Takenori, Takahashi Yoshinori, Izawa Kazutaka, Iwasaki Yoichi, Hasegawa Kazuhiro, Arino Hiroshi, Minamizaki Takeshi, Yoshikawa Norie, Takata Shinjiro, Yoshihara Yasuo, Tohma Shige |
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients. Calcified tissue international 2024 1 . A Bosman, N M Appelman-Dijkstra, A M Boot, M H de Borst, A C van de Ven, R T de Jongh, A Bökenkamp, J P van den Bergh, B C J van der Eerden, M C Zillike |
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- Page last updated:Apr 22, 2024
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