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Journal Abstract Search

227 related items for PubMed ID: 30950137

  • 21.
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  • 22. Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle.
    Pausch H, Schwarzenbacher H, Burgstaller J, Flisikowski K, Wurmser C, Jansen S, Jung S, Schnieke A, Wittek T, Fries R.
    BMC Genomics; 2015 Apr 18; 16(1):312. PubMed ID: 25927203
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  • 25. Fanconi-Bickel syndrome - mutation in SLC2A2 gene.
    Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N.
    Indian J Pediatr; 2014 Nov 18; 81(11):1237-9. PubMed ID: 24912437
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  • 27. Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.
    Baqai K, Bassetti JA, Kovanlikaya A, Seshan SV, Akchurin O.
    Pediatr Nephrol; 2024 Nov 18; 39(11):3201-3204. PubMed ID: 38847860
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  • 28. Fanconi- Bickel Syndrome: mutation in an Indian patient.
    Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S.
    Indian J Pediatr; 2012 Jun 18; 79(6):810-2. PubMed ID: 21972075
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  • 29. Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient.
    Pena L, Charrow J.
    Am J Med Genet A; 2011 Feb 18; 155A(2):415-7. PubMed ID: 21271664
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  • 30. A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.
    Simşek E, Savaş-Erdeve S, Sakamoto O, Doğanci T, Dallar Y.
    Turk J Pediatr; 2009 Feb 18; 51(2):166-8. PubMed ID: 19480329
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  • 31. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.
    Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K.
    Pediatr Res; 2000 Nov 18; 48(5):586-9. PubMed ID: 11044475
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  • 34. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.
    Amita M, Srivastava P, Mandal K, De S, Phadke SR.
    Indian J Pediatr; 2017 Mar 18; 84(3):236-237. PubMed ID: 27738794
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  • 35. Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
    Su Z, Du ML, Chen HS, Chen QL, Yu CS, Mal HM.
    J Pediatr Endocrinol Metab; 2011 Mar 18; 24(9-10):749-53. PubMed ID: 22145468
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  • 36. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
    Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA.
    Clin Genet; 2007 Jun 18; 71(6):551-7. PubMed ID: 17539904
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  • 37. GLUT2, glucose sensing and glucose homeostasis.
    Thorens B.
    Diabetologia; 2015 Feb 18; 58(2):221-32. PubMed ID: 25421524
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  • 38. Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.
    Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S.
    Clin Exp Nephrol; 2011 Oct 18; 15(5):745-748. PubMed ID: 21625891
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  • 39. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
    Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.
    Hum Genet; 1999 Sep 18; 105(3):240-3. PubMed ID: 10987651
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  • 40. GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus.
    McCulloch LJ, van de Bunt M, Braun M, Frayn KN, Clark A, Gloyn AL.
    Mol Genet Metab; 2011 Dec 18; 104(4):648-53. PubMed ID: 21920790
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