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Journal Abstract Search

291 related items for PubMed ID: 35053800

  • 1.
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  • 2. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
    Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A.
    Nat Genet; 2003 Jul; 34(3):274-85. PubMed ID: 12796778
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  • 3. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
    Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B.
    Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
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  • 5. Correction: Liu et al. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε). Brain Sci. 2022, 12, 56.
    Liu X, Bennison SA, Robinson L, Toyo-Oka K.
    Brain Sci; 2022 Feb 25; 12(3):. PubMed ID: 35326370
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  • 8. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.
    Baker EK, Brewer CJ, Ferreira L, Schapiro M, Tenney J, Wied HM, Kline-Fath BM, Smolarek TA, Weaver KN, Hopkin RJ.
    Am J Med Genet A; 2023 Feb 25; 191(2):526-539. PubMed ID: 36433683
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  • 9. 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 25; 72(4):918-30. PubMed ID: 12621583
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  • 10. 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 25; 26(2):223-7. PubMed ID: 20833799
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  • 11. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
    Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.
    J Med Genet; 2010 May 25; 47(5):299-311. PubMed ID: 20452996
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  • 12. Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.
    Liang B, Yu D, Zhao W, Wang Y, Wu X, Chen L, Lin N, Huang H, Xu L.
    BMC Med Genomics; 2022 Dec 21; 15(1):268. PubMed ID: 36544138
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  • 13. Murine modelling of classical lissencephaly.
    Gambello MJ, Hirotsune S, Wynshaw-Boris A.
    Neurogenetics; 1999 Apr 21; 2(2):77-86. PubMed ID: 10369882
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  • 14. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
    Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH.
    Hum Mol Genet; 1997 Feb 21; 6(2):147-55. PubMed ID: 9063734
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  • 15. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
    Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G.
    BMC Med Genet; 2012 Oct 04; 13():93. PubMed ID: 23035971
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  • 16. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.
    Wynshaw-Boris A.
    Clin Genet; 2007 Oct 04; 72(4):296-304. PubMed ID: 17850624
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  • 17. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
    Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B.
    Genet Med; 2019 Jul 04; 21(7):1652-1656. PubMed ID: 30568308
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  • 18. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
    Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH.
    Hum Mol Genet; 1997 Feb 04; 6(2):157-64. PubMed ID: 9063735
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  • 19. 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 Feb 04; 53(5):303-8. PubMed ID: 20599530
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  • 20. Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
    Hadj Amor M, Dimassi S, Taj A, Slimani W, Hannachi H, Mlika A, Ben Helel K, Saad A, Mougou-Zerelli S.
    BMC Med Genet; 2020 Feb 06; 21(1):26. PubMed ID: 32028920
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