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195 related items for PubMed ID: 32311027

  • 1. Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
    Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA.
    J Clin Endocrinol Metab; 2020 Jul 01; 105(7):2392-400. PubMed ID: 32311027
    [Abstract] [Full Text] [Related]

  • 2. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
    Tencza AL, Ichikawa S, Dang A, Kenagy D, McCarthy E, Econs MJ, Levine MA.
    J Clin Endocrinol Metab; 2009 Nov 01; 94(11):4433-8. PubMed ID: 19820004
    [Abstract] [Full Text] [Related]

  • 3. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
    Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H.
    Am J Hum Genet; 2006 Feb 01; 78(2):179-92. PubMed ID: 16358214
    [Abstract] [Full Text] [Related]

  • 4. A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
    Chi Y, Zhao Z, He X, Sun Y, Jiang Y, Li M, Wang O, Xing X, Sun AY, Zhou X, Meng X, Xia W.
    Bone; 2014 Feb 01; 59():114-21. PubMed ID: 24246249
    [Abstract] [Full Text] [Related]

  • 5. Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
    Dhir G, Li D, Hakonarson H, Levine MA.
    Bone; 2017 Apr 01; 97():15-19. PubMed ID: 27939817
    [Abstract] [Full Text] [Related]

  • 6. SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria.
    Hasani-Ranjbar S, Ejtahed HS, Amoli MM, Bitarafan F, Qorbani M, Soltani A, Yarjoo B.
    J Clin Res Pediatr Endocrinol; 2018 Nov 29; 10(4):343-349. PubMed ID: 29809158
    [Abstract] [Full Text] [Related]

  • 7. [Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].
    Segawa H, Shiozaki Y, Minoshima S, Miyamoto K.
    Clin Calcium; 2013 Oct 29; 23(10):1445-50. PubMed ID: 24076642
    [Abstract] [Full Text] [Related]

  • 8. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
    Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O.
    Exp Clin Endocrinol Diabetes; 2009 Feb 29; 117(2):49-56. PubMed ID: 18523928
    [Abstract] [Full Text] [Related]

  • 9. SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.
    Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Dehghan E, Soltani A, Amiri P, Larijani B.
    J Clin Res Pediatr Endocrinol; 2012 Jun 29; 4(2):89-93. PubMed ID: 22672866
    [Abstract] [Full Text] [Related]

  • 10. Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
    Molin A, Lemoine S, Kaufmann M, Breton P, Nowoczyn M, Ballandonne C, Coudray N, Mittre H, Richard N, Ryckwaert A, Lavillaureix A, Jones G, Bacchetta J, Kottler ML.
    Front Endocrinol (Lausanne); 2021 Jun 29; 12():736240. PubMed ID: 34721296
    [Abstract] [Full Text] [Related]

  • 11. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
    Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM.
    Am J Hum Genet; 2006 Feb 29; 78(2):193-201. PubMed ID: 16358215
    [Abstract] [Full Text] [Related]

  • 12. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.
    Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C.
    Bone; 2012 May 29; 50(5):1100-6. PubMed ID: 22387237
    [Abstract] [Full Text] [Related]

  • 13. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
    Bergwitz C, Miyamoto KI.
    Pflugers Arch; 2019 Jan 29; 471(1):149-163. PubMed ID: 30109410
    [Abstract] [Full Text] [Related]

  • 14. Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.
    Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F.
    Orphanet J Rare Dis; 2010 Jan 14; 5():1. PubMed ID: 20074341
    [Abstract] [Full Text] [Related]

  • 15. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
    Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C.
    Kidney Int; 2024 May 14; 105(5):1058-1076. PubMed ID: 38364990
    [Abstract] [Full Text] [Related]

  • 16. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
    Abe Y, Nagasaki K, Watanabe T, Abe T, Fukami M.
    Horm Res Paediatr; 2014 May 14; 82(1):65-71. PubMed ID: 24924704
    [Abstract] [Full Text] [Related]

  • 17. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
    Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E.
    Am J Med Genet A; 2011 Mar 14; 155A(3):626-33. PubMed ID: 21344632
    [Abstract] [Full Text] [Related]

  • 18. Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
    Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R.
    J Bone Miner Res; 2022 Aug 14; 37(8):1580-1591. PubMed ID: 35689455
    [Abstract] [Full Text] [Related]

  • 19. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.
    Schinke T, Oheim R.
    Kidney Int; 2024 May 14; 105(5):927-929. PubMed ID: 38642991
    [Abstract] [Full Text] [Related]

  • 20. Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.
    Ichikawa S, Tuchman S, Padgett LR, Gray AK, Baluarte HJ, Econs MJ.
    Bone; 2014 Feb 14; 59():53-6. PubMed ID: 24176905
    [Abstract] [Full Text] [Related]

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