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147 related items for PubMed ID: 27062269

  • 1. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature.
    Samanta D.
    Acta Neurol Belg; 2017 Mar; 117(1):359-362. PubMed ID: 27062269
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  • 3. Infantile spasms in a patient with williams syndrome and craniosynostosis.
    Morimoto M, An B, Ogami A, Shin N, Sugino Y, Sawai Y, Usuku T, Tanaka M, Hirai K, Nishimura A, Hasegawa K, Sugimoto T.
    Epilepsia; 2003 Nov; 44(11):1459-62. PubMed ID: 14636357
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  • 4. Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.
    Röthlisberger B, Hoigné I, Huber AR, Brunschwiler W, Capone Mori A.
    Am J Med Genet A; 2010 Feb; 152A(2):434-7. PubMed ID: 20101691
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  • 6. Infantile ictal apneas in a child with williams-beuren syndrome.
    Myers KA, McLeod DR, Bello-Espinosa L.
    Pediatr Neurol; 2013 Feb; 48(2):149-51. PubMed ID: 23337011
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  • 7. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.
    Popp B, Trollmann R, Büttner C, Caliebe A, Thiel CT, Hüffmeier U, Reis A, Zweier C.
    Eur J Med Genet; 2016 Oct; 59(10):549-53. PubMed ID: 27613244
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  • 9. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
    Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T.
    Genesis; 2010 Apr; 48(4):233-43. PubMed ID: 20146355
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  • 11. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.
    Mizugishi K, Yamanaka K, Kuwajima K, Kondo I.
    J Hum Genet; 1998 Apr; 43(3):178-81. PubMed ID: 9747030
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  • 12. Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.
    Guenat D, Quentin S, Rizzari C, Lundin C, Coliva T, Edery P, Fryssira H, Bermont L, Ferrand C, Soulier J, Borg C, Rohrlich PS.
    J Hematol Oncol; 2014 Nov 07; 7():82. PubMed ID: 25388916
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  • 13. Infantile spasms due to unilateral cerebral infarcts.
    Alvarez LA, Shinnar S, Moshé SL.
    Pediatrics; 1987 Jun 07; 79(6):1024-6. PubMed ID: 3035477
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  • 17. Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion).
    Sylos Cd, Pereira AC, Azeka E, Miura N, Mesquita SM, Ebaid M.
    Arq Bras Cardiol; 2002 Aug 07; 79(2):173-80. PubMed ID: 12219191
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  • 18. Infantile spasms syndrome in monozygotic twins.
    Pavone L, Mollica F, Incorpora G, Pampiglione G.
    Arch Dis Child; 1980 Nov 07; 55(11):870-2. PubMed ID: 6254446
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