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Journal Abstract Search

185 related items for PubMed ID: 24357251

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  • 3. Complete sex reversal in a WAGR syndrome patient.
    Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM.
    Am J Med Genet A; 2007 Nov 15; 143A(22):2692-5. PubMed ID: 17935232
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  • 7. Clinical utility gene card for: WAGR syndrome.
    Clericuzio C, Hingorani M, Crolla JA, van Heyningen V, Verloes A.
    Eur J Hum Genet; 2011 Apr 15; 19(4):. PubMed ID: 21224893
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  • 12. A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.
    Balay L, Totten E, Okada L, Zell S, Ticho B, Israel J, Kogan J.
    Am J Med Genet A; 2016 Jan 15; 170A(1):202-9. PubMed ID: 26419218
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  • 16. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
    Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE.
    Cortex; 2013 Jan 15; 49(10):2700-10. PubMed ID: 23517654
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  • 17. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
    Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA.
    Am J Med Genet A; 2008 Mar 01; 146A(5):558-69. PubMed ID: 18241071
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  • 19. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
    Redeker EJ, de Visser AS, Bergen AA, Mannens MM.
    Mol Vis; 2008 May 07; 14():836-40. PubMed ID: 18483559
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