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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

199 related items for PubMed ID: 25899426

  • 1. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
    Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M.
    Am J Med Genet A; 2015 Jun; 167(6):1243-51. PubMed ID: 25899426
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  • 2. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
    Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ.
    Am J Hum Genet; 2013 Dec 05; 93(6):1001-14. PubMed ID: 24239381
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  • 6. From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.
    Mutlu Albayrak H, Elçioğlu NH, Yeter B, Karaer K.
    Am J Med Genet A; 2021 Aug 05; 185(8):2325-2334. PubMed ID: 33951304
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  • 7. Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
    Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS.
    Clin Genet; 2020 Nov 05; 98(5):445-456. PubMed ID: 32740904
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  • 10. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
    Gumus E.
    Ophthalmic Genet; 2018 Jun 05; 39(3):391-395. PubMed ID: 29419336
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  • 12. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
    Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T.
    Brain Dev; 2016 Mar 05; 38(3):337-40. PubMed ID: 26421802
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  • 14. Consanguinity as an Adjunct Diagnostic Tool.
    Srivastava P, Saxena D, Joshi S, Phadke SR.
    Indian J Pediatr; 2016 Mar 05; 83(3):258-60. PubMed ID: 26138576
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  • 15. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
    Kabzińska D, Mierzewska H, Senderek J, Kochański A.
    Folia Neuropathol; 2016 Mar 05; 54(3):273-281. PubMed ID: 27764520
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  • 17. Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
    Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P.
    Am J Med Genet A; 2016 Jul 05; 170(7):1843-8. PubMed ID: 27256633
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  • 18. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
    Sezer A, Kayhan G, Koç A, Ergün MA, Perçin FE.
    Cytogenet Genome Res; 2020 Jul 05; 160(6):309-315. PubMed ID: 32599602
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  • 19. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
    Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR.
    Open Biol; 2015 Jun 05; 5(6):150047. PubMed ID: 26063829
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  • 20. Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
    Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA.
    Am J Hum Genet; 2011 Apr 08; 88(4):499-507. PubMed ID: 21473985
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