Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: PHEX[original query] |
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Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. The Journal of clinical endocrinology and metabolism 2008 Dec 93 (12): 4672-82. Jehan Frédéric, Gaucher Céline, Nguyen Thi Minh, Walrant-Debray Odile, Lahlou Najiba, Sinding Christiane, Déchaux Michèle, Garabédian Michè |
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. Journal of human genetics 2015 Sep . Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuef |
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. European journal of endocrinology / European Federation of Endocrine Societies 2015 Nov . Rafaelsen Silje Hjorth, Johansson Stefan, Raeder Helge, Bjerknes Robe |
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 |
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. Journal of inherited metabolic disease 2018 2 41 (5): 865-876. Chesher Douglas, Oddy Michael, Darbar Ulpee, Sayal Parag, Casey Adrian, Ryan Aidan, Sechi Annalisa, Simister Charlotte, Waters Aoife, Wedatilake Yehani, Lachmann Robin H, Murphy Elai |
[Mutation analysis of four pedigrees affected with hypophosphatemic rickets through targeted next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 10 35 (5): 638-643. Bai Ying, Liu Ning, Shao Mingwei, Qin Guijun, Gao Xu, Kong Xiangdo |
Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets. Journal of bone and mineral metabolism 2020 8 39 (2): 212-223. Baroncelli Giampiero I, Zampollo Elisa, Manca Mario, Toschi Benedetta, Bertelloni Silvano, Michelucci Angela, Isola Alessandro, Bulleri Alessandra, Peroni Diego, Giuca Maria Ri |
Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia. Journal of endocrinological investigation 2020 4 43 (11): 1577-1590. Lin Y, Xu J, Li X, Sheng H, Su L, Wu M, Cheng J, Huang Y, Mao X, Zhou Z, Zhang W, Li C, Cai Y, Wu D, Lu Z, Yin X, Zeng C, Liu |
X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background. Endokrynologia Polska 2020 12 72 (2): 108-119. Obara-Moszynska Monika, Rojek Aleksandra, Kolesinska Zofia, Jurkiewicz Dorota, Chrzanowska Krystyna H, Niedziela Mar |
Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil. Archives of endocrinology and metabolism 2020 10 64 (6): 796-802. Moreira Carolina Aguiar, Costa Tatiana M R Lemos, Marques Julia Vieira Oberger, Sylvestre Lucimary, Almeida Ana Cristina R, Maluf Eliane M C P, Borba Victória Z |
Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation. Journal of pediatric endocrinology & metabolism : JPEM 2021 9 34 (12): 1573-1584. Alikasifoglu Ayfer, Unsal Yagmur, Gonc Elmas Nazli, Ozon Zeynep Alev, Kandemir Nurgun, Alikasifoglu Mehm |
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets. BMC medical genomics 2022 7 15 (1): 161. Cao Yixuan, You Yi, Wang Qiong, Ren Xiuzhi, Li Shan, Li Lulu, Xia Weibo, Guan Xin, Yang Tao, Ikegawa Shiro, Wang Zheng, Zhao Xiu |
A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype. Frontiers in pediatrics 2023 10 11 1215952. Mauro Borghi, Leopoldo Muniz da Silva, Luciana Bispo, Carlos A Long |
Exome Sequencing in Monogenic Forms of Rickets. Indian journal of pediatrics 2023 1 . Jacob Prince, Bhavani Gandham SriLakshmi, Udupa Prajna, Wang Zheng, Hariharan Sankar V, Delampady Kishan, Dalal Ashwin, Kamath Nutan, Ikegawa Shiro, Shenoy Rathika D, Handattu Koushik, Shah Hitesh, Girisha Katta |
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family. Open life sciences 2024 5 19 (1): 20220853. Jinshui He, Shuyun Zhang, Yueya Kang, Yugui Zhang, Zhugui Zheng, Minyi Ru |
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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