Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Hypercalciuria and PTH[original query] |
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| Vitamin D receptor gene polymorphism in hypercalciuric children. Pediatric nephrology (Berlin, Germany) 2004 Jul 19 (7): 724-7. Söylemezo?lu O?uz, Ozkaya Ozan, Gönen Sevim, Misirlio?lu Müge, Kalman Süleyman, Buyan Nec |
| [Alterations in bone mineral metabolism in patients with calcium kidney stone disease and polymorphism of vitamin D receptor. Preliminary results]. Nefrología : publicación oficial de la Sociedad Española Nefrologia 2007 27 (6): 694-703. Moyano M J, Gómez de Tejada M J, García Lozano R, Moruno R, Ortega R, Martí V, Sánchez Palencia R, Miranda M J, Palma A, Pérez Cano |
| Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. Human molecular genetics 2008 Jun 17 (11): 1613-8. Suzuki Yoshiro, Pasch Andreas, Bonny Olivier, Mohaupt Markus G, Hediger Matthias A, Frey Felix |
| [A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing]. Zhonghua nei ke za zhi 2016 Aug 55 (8): 604-8. Li Y P, Wang O, Quan T T, Xia W B, Jiang Y, Li M, Meng X W, Xing X |
| Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. Nephron 2016 Jul 133 (3): . Gigante Maddalena, Santangelo Luisa, Diella Sterpeta, Caridi Gianluca, Argentiero Lucia, D'Alessandro Maria Michela, Martino Marida, Stea Emma Diletta, Ardissino Gianluigi, Carbone Vincenza, Pepe Silvana, Scrutinio Domenico, Maringhini Silvio, Ghiggeri Gian Marco, Grandaliano Giuseppe, Giordano Mario, Gesualdo Lore |
| Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2016 Apr . O'Keeffe D T, Tebben P J, Kumar R, Singh R J, Wu Y, Wermers R |
| Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study. European journal of endocrinology 2018 11 180 (1): 59-70. García-Castaño Alejandro, Madariaga Leire, Pérez de Nanclares Gustavo, Ariceta Gema, Gaztambide Sonia, Castaño Lu |
| Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 5 34 (9): 1609-1618. Roberts Mary Scott, Gafni Rachel I, Brillante Beth, Guthrie Lori C, Streit Jamie, Gash David, Gelb Jeff, Krusinska Eva, Brennan Sarah C, Schepelmann Martin, Riccardi Daniela, Bin Khayat Mohd Ezuan, Ward Donald T, Nemeth Edward F, Rosskamp Ralf, Collins Michael |
| Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations. Journal of nephrology 2021 4 34 (6): 2053-2062. Vall-Palomar Mònica, Burballa Carla, Claverie-Martín Félix, Meseguer Anna, Ariceta Ge |
| Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D. Frontiers in endocrinology 2021 11 12 736240. Molin Arnaud, Lemoine Sandrine, Kaufmann Martin, Breton Pierre, Nowoczyn Marie, Ballandonne Céline, Coudray Nadia, Mittre Hervé, Richard Nicolas, Ryckwaert Amélie, Lavillaureix Alinoe, Jones Glenville, Bacchetta Justine, Kottler Marie-Lau |
| Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia. Pediatric nephrology (Berlin, Germany) 2022 9 38 (4): 1067-1073. Gurevich Evgenia, Borovitz Yael, Levi Shelli, Perlman Sharon, Landau Dani |
| Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c. Kidney international 2024 10 . Max Brunkhorst, Lena Brunkhorst, Helge Martens, Svetlana Papizh, Martine Besouw, Corinna Grasemann, Serap Turan, Przemyslaw Sikora, Milan Chromek, Elisabeth Cornelissen, Marc Fila, Marc Lilien, Jeremy Allgrove, Thomas J Neuhaus, Mehmet Eltan, Laura Espinosa, Dirk Schnabel, Ibrahim Gokce, Juan David González-Rodríguez, Priyanka Khandelwal, Mandy G Keijzer-Veen, Felix Lechner, Maria Szczepa?ska, Marcin Zaniew, Justine Bacchetta, Francesco Emma, Dieter Haffn |
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