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266 related items for PubMed ID: 36544138

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. [Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome].
    Lin S, Luo Y, Wu J, Chen B, Ji Y, Zhou Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb 10; 34(1):89-92. PubMed ID: 28186603
    [Abstract] [Full Text] [Related]

  • 3. 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 10; 47(5):299-311. PubMed ID: 20452996
    [Abstract] [Full Text] [Related]

  • 4. 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 10; 46(12):825-33. PubMed ID: 19584063
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 04; 41(8):2259-2262. PubMed ID: 32323081
    [Abstract] [Full Text] [Related]

  • 7. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
    Blazejewski SM, Bennison SA, Smith TH, Toyo-Oka K.
    Front Genet; 2018 Aug 04; 9():80. PubMed ID: 29628935
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 161A(6):1453-8. PubMed ID: 23633430
    [Abstract] [Full Text] [Related]

  • 9. 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 04; 191(2):526-539. PubMed ID: 36433683
    [Abstract] [Full Text] [Related]

  • 10. Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.
    Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2018 Feb 04; 57(1):128-132. PubMed ID: 29458882
    [Abstract] [Full Text] [Related]

  • 11. [Prenatal genetic analysis of a fetus with Miller-Dieker syndrome].
    Wang F, Qi N, Wang T, Gao Y, Wu D, Zhang M, Yang K, Peng H, Lei X, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr 10; 40(4):505-511. PubMed ID: 36972951
    [Abstract] [Full Text] [Related]

  • 12. 17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.
    Henry RK, Astbury C, Stratakis CA, Hickey SE.
    Eur J Med Genet; 2016 Oct 10; 59(10):512-6. PubMed ID: 27633569
    [Abstract] [Full Text] [Related]

  • 13. A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
    Vittas S, Bisba M, Christopoulou G, Apostolakopoulou L, Pons R, Constantoulakis P.
    Genes (Basel); 2023 Jun 24; 14(7):. PubMed ID: 37510238
    [Abstract] [Full Text] [Related]

  • 14. [Prenatal diagnosis of a fetus with Miller-Dieker syndrome].
    Xu L, Huang H, Wang Y, An G, Lin N, Zhang M, Wu X, He D, Chen M, Lin Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):879-883. PubMed ID: 29188621
    [Abstract] [Full Text] [Related]

  • 15. [Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
    Duan F, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan 10; 38(1):71-73. PubMed ID: 33423263
    [Abstract] [Full Text] [Related]

  • 16. [Prenatal diagnosis of a fetus with Miller-Dieker syndrome].
    Zhang H, Yang X, Tang X, Li G, Tang D, Huang Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov 10; 37(11):1280-1282. PubMed ID: 33179240
    [Abstract] [Full Text] [Related]

  • 17. [Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication].
    Liang B, Wang Y, Chen L, Huang H, Chen X, He D, Xu L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov 10; 38(11):1064-1067. PubMed ID: 34729744
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
    Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2011 Feb 06; 54(3):287-91. PubMed ID: 21195811
    [Abstract] [Full Text] [Related]

  • 20. Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities.
    Noor A, Bogatan S, Watkins N, Meschino WS, Stavropoulos DJ.
    Clin Genet; 2018 Feb 06; 93(2):365-367. PubMed ID: 28542865
    [Abstract] [Full Text] [Related]

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