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Journal Abstract Search

143 related items for PubMed ID: 20101691

  • 1. 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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  • 2. 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 Feb; 43(3):178-81. PubMed ID: 9747030
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  • 9. 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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  • 11. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.
    Wouters CH, Meijers-Heijboer HJ, Eussen BJ, van der Heide AA, van Luijk RB, van Drunen E, Beverloo BB, Visscher F, Van Hemel JO.
    Am J Med Genet; 2001 Aug 15; 102(3):261-5. PubMed ID: 11484204
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  • 13. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
    Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, Rivera H, Jave-Suárez L, Aguilar-Lemarroy A, Torres-Reyes LA, Córdova-Fletes C, Barros-Núñez P, Delgadillo-Pérez S, Dávalos-Rodríguez IP, García-Ortiz JE, Domínguez MG.
    J Genet; 2019 Jun 15; 98(2):. PubMed ID: 31204697
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  • 14. Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.
    Saito Y, Kubota M, Kurosawa K, Ichihashi I, Kaneko Y, Hattori A, Komaki H, Nakagawa E, Sugai K, Sasaki M.
    Brain Dev; 2011 May 15; 33(5):437-41. PubMed ID: 20708863
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  • 16. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
    Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G.
    Eur J Med Genet; 2015 Feb 15; 58(2):51-8. PubMed ID: 25497044
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  • 17. Infantile spasms associated with 5q14.3 deletion.
    Marashly A, Riel-Romero RM, Ursin S, Ghawi H.
    J La State Med Soc; 2010 Feb 15; 162(4):223-6. PubMed ID: 20882816
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  • 19. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
    Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD.
    Am J Med Genet A; 2015 Dec 15; 167A(12):3197-203. PubMed ID: 26420477
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  • 20. Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.
    Nicita F, Ulgiati F, Bernardini L, Garone G, Papetti L, Novelli A, Spalice A.
    Ann Hum Genet; 2015 May 15; 79(3):209-17. PubMed ID: 25779878
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