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Journal Abstract Search

165 related items for PubMed ID: 20833799

  • 1. Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy.
    Tenney JR, Hopkin RJ, Schapiro MB.
    J Child Neurol; 2011 Feb; 26(2):223-7. PubMed ID: 20833799
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  • 3. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
    Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.
    J Med Genet; 2009 Dec; 46(12):825-33. PubMed ID: 19584063
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  • 4. Genomic copy number variations at 17p13.3 and epileptogenesis.
    Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T.
    Epilepsy Res; 2010 May; 89(2-3):303-9. PubMed ID: 20227246
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  • 6. Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
    Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.
    Eur J Med Genet; 2010 May; 53(5):303-8. PubMed ID: 20599530
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  • 7. 17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.
    Romano C, Ferranti S, Mencarelli MA, Longo I, Renieri A, Grosso S.
    Neurol Sci; 2020 Aug; 41(8):2259-2262. PubMed ID: 32323081
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  • 8. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
    Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH.
    Am J Hum Genet; 2003 Apr; 72(4):918-30. PubMed ID: 12621583
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  • 10. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
    Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.
    J Med Genet; 2009 Oct; 46(10):703-10. PubMed ID: 19520700
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  • 12. [A case of Miller-Dieker syndrome associated with satellite on chromosome 17p].
    Obara Y, Koseki N, Fujiwara J, Kikuchi M, Miura T, Funato T, Kaku M.
    Rinsho Byori; 2001 Feb; 49(2):189-92. PubMed ID: 11307315
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  • 15. [Lissencephalia syndromes].
    Bode H, Bubl R.
    Schweiz Rundsch Med Prax; 1992 Dec 15; 81(51):1529-33. PubMed ID: 1470795
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  • 17. Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.
    Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K.
    Pediatr Neurol; 2007 Apr 15; 36(4):258-60. PubMed ID: 17437911
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  • 18. [Miller-Dieker syndrome: a new case with cerebral echographic study].
    Vaquerizo-Madrid J, Gómez-Martín H, Rincón-Rodera P, Alonso-Luengo O.
    Rev Neurol; 2007 Apr 15; 30(1):48-50. PubMed ID: 10742996
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  • 20. DNA analysis in patients with lissencephaly type I and other cortical dysplasias.
    Oostra BA, de Rijk-van Andel JF, Eussen HJ, van Hemel JO, Halley DJ, Niermeijer MF.
    Am J Med Genet; 1991 Sep 01; 40(3):383-6. PubMed ID: 1951447
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