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Journal Abstract Search

239 related items for PubMed ID: 25927203

  • 1. 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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  • 2. Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2).
    Burgstaller J, Url A, Pausch H, Schwarzenbacher H, Egerbacher M, Wittek T.
    Berl Munch Tierarztl Wochenschr; 2016 Apr 18; 129(3-4):132-7. PubMed ID: 27169150
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  • 3. A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.
    Schwarzenbacher H, Wurmser C, Flisikowski K, Misurova L, Jung S, Langenmayer MC, Schnieke A, Knubben-Schweizer G, Fries R, Pausch H.
    Genet Sel Evol; 2016 Mar 31; 48():25. PubMed ID: 27036302
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  • 5. [Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh].
    Joller S, Stettler M, Locher I, Dettwiler M, Seefried F, Meylan M, Drögemüller C.
    Schweiz Arch Tierheilkd; 2018 Mar 31; 160(3):179-184. PubMed ID: 29509141
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  • 6. Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
    Enogieru OJ, Ung PMU, Yee SW, Schlessinger A, Giacomini KM.
    Hum Mutat; 2019 Jul 31; 40(7):983-995. PubMed ID: 30950137
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  • 12. Short communication: A splice site mutation in CENPU is associated with recessive embryonic lethality in Holstein cattle.
    Hozé C, Escouflaire C, Mesbah-Uddin M, Barbat A, Boussaha M, Deloche MC, Boichard D, Fritz S, Capitan A.
    J Dairy Sci; 2020 Jan 31; 103(1):607-612. PubMed ID: 31733857
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  • 14. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant.
    Batool H, Zubaida B, Hashmi MA, Naeem M.
    J Pediatr Endocrinol Metab; 2019 Nov 26; 32(11):1229-1233. PubMed ID: 31473689
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  • 16. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
    Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J.
    Hum Genet; 2002 Jan 26; 110(1):21-9. PubMed ID: 11810292
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  • 17. A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle.
    Jung S, Pausch H, Langenmayer MC, Schwarzenbacher H, Majzoub-Altweck M, Gollnick NS, Fries R.
    BMC Genomics; 2014 Jul 22; 15(1):623. PubMed ID: 25052073
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  • 19. Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
    Al-Haggar M, Sakamoto O, Shaltout A, Al-Hawari A, Wahba Y, Abdel-Hadi D.
    Clin Exp Nephrol; 2012 Aug 22; 16(4):604-10. PubMed ID: 22350464
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  • 20. 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 22; 48(5):586-9. PubMed ID: 11044475
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