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Journal Abstract Search

132 related items for PubMed ID: 29029121

  • 1. Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.
    Demir K, Yildiz M, Bahat H, Goldman M, Hassan N, Tzur S, Ofir A, Magen D.
    J Clin Endocrinol Metab; 2017 Dec 01; 102(12):4604-4614. PubMed ID: 29029121
    [Abstract] [Full Text] [Related]

  • 2. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
    Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K.
    N Engl J Med; 2010 Mar 25; 362(12):1102-9. PubMed ID: 20335586
    [Abstract] [Full Text] [Related]

  • 3. Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.
    Kurnaz E, Savaş Erdeve Ş, Çetinkaya S, Aycan Z.
    Horm Res Paediatr; 2019 Mar 25; 91(4):278-284. PubMed ID: 30227399
    [Abstract] [Full Text] [Related]

  • 4. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
    Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M.
    J Am Soc Nephrol; 2016 Feb 25; 27(2):604-14. PubMed ID: 26047794
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  • 5. Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
    Wagner CA, Rubio-Aliaga I, Hernando N.
    Pediatr Nephrol; 2019 Apr 25; 34(4):549-559. PubMed ID: 29275531
    [Abstract] [Full Text] [Related]

  • 6. Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers.
    Güven A, Konrad M, Schlingmann KP.
    J Pediatr Endocrinol Metab; 2020 Aug 31; 33(10):1353-1358. PubMed ID: 32866123
    [Abstract] [Full Text] [Related]

  • 7. CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
    De Paolis E, Scaglione GL, De Bonis M, Minucci A, Capoluongo E.
    Clin Chem Lab Med; 2019 Oct 25; 57(11):1650-1667. PubMed ID: 31188746
    [Abstract] [Full Text] [Related]

  • 8. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
    Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A.
    Physiol Rep; 2018 Jun 25; 6(12):e13715. PubMed ID: 29924459
    [Abstract] [Full Text] [Related]

  • 9. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
    Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H.
    J Clin Endocrinol Metab; 2012 Oct 25; 97(10):E1978-86. PubMed ID: 22865906
    [Abstract] [Full Text] [Related]

  • 10. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
    Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH.
    J Clin Endocrinol Metab; 2014 Nov 25; 99(11):E2451-6. PubMed ID: 25050900
    [Abstract] [Full Text] [Related]

  • 11. Kidney-specific inactivation of the megalin gene impairs trafficking of renal inorganic sodium phosphate cotransporter (NaPi-IIa).
    Bachmann S, Schlichting U, Geist B, Mutig K, Petsch T, Bacic D, Wagner CA, Kaissling B, Biber J, Murer H, Willnow TE.
    J Am Soc Nephrol; 2004 Apr 25; 15(4):892-900. PubMed ID: 15034091
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  • 15. Involvement of the MAPK-kinase pathway in the PTH-mediated regulation of the proximal tubule type IIa Na+/Pi cotransporter in mouse kidney.
    Bacic D, Schulz N, Biber J, Kaissling B, Murer H, Wagner CA.
    Pflugers Arch; 2003 Apr 25; 446(1):52-60. PubMed ID: 12690463
    [Abstract] [Full Text] [Related]

  • 16. Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
    Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D, Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M, Schlingmann KP, Litwin M.
    J Appl Genet; 2017 Aug 25; 58(3):349-353. PubMed ID: 28470390
    [Abstract] [Full Text] [Related]

  • 17. Magnesium stimulates renal phosphate reabsorption.
    Thumfart J, Jung S, Amasheh S, Krämer S, Peters H, Sommer K, Biber J, Murer H, Meij I, Querfeld U, Wagner CA, Müller D.
    Am J Physiol Renal Physiol; 2008 Oct 25; 295(4):F1126-33. PubMed ID: 18701629
    [Abstract] [Full Text] [Related]

  • 18. Ifosfamide metabolites CAA, 4-OH-Ifo and Ifo-mustard reduce apical phosphate transport by changing NaPi-IIa in OK cells.
    Patzer L, Hernando N, Ziegler U, Beck-Schimmer B, Biber J, Murer H.
    Kidney Int; 2006 Nov 25; 70(10):1725-34. PubMed ID: 17003823
    [Abstract] [Full Text] [Related]

  • 19. Proximal tubular handling of phosphate: A molecular perspective.
    Forster IC, Hernando N, Biber J, Murer H.
    Kidney Int; 2006 Nov 25; 70(9):1548-59. PubMed ID: 16955105
    [Abstract] [Full Text] [Related]

  • 20. 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 Nov 25; 12():736240. PubMed ID: 34721296
    [Abstract] [Full Text] [Related]

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