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Journal Abstract Search

291 related items for PubMed ID: 35053800

  • 21. Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.
    Pramparo T, Libiger O, Jain S, Li H, Youn YH, Hirotsune S, Schork NJ, Wynshaw-Boris A.
    PLoS Genet; 2011 Mar; 7(3):e1001331. PubMed ID: 21423666
    [Abstract] [Full Text] [Related]

  • 22. Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
    Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ.
    Eur J Med Genet; 2020 Apr; 63(4):103774. PubMed ID: 31585183
    [Abstract] [Full Text] [Related]

  • 23. Increased LIS1 expression affects human and mouse brain development.
    Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O.
    Nat Genet; 2009 Feb; 41(2):168-77. PubMed ID: 19136950
    [Abstract] [Full Text] [Related]

  • 24. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
    Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH.
    Hum Mol Genet; 2000 Dec 12; 9(20):3019-28. PubMed ID: 11115846
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. 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 24; 57(1):128-132. PubMed ID: 29458882
    [Abstract] [Full Text] [Related]

  • 27. 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 24; 93(2):365-367. PubMed ID: 28542865
    [Abstract] [Full Text] [Related]

  • 28. [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]

  • 29. An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome.
    Iefremova V, Manikakis G, Krefft O, Jabali A, Weynans K, Wilkens R, Marsoner F, Brändl B, Müller FJ, Koch P, Ladewig J.
    Cell Rep; 2017 Apr 04; 19(1):50-59. PubMed ID: 28380362
    [Abstract] [Full Text] [Related]

  • 30. Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
    Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, Ledbetter DH, Wynshaw-Boris A.
    Genome Res; 1997 Jun 04; 7(6):625-34. PubMed ID: 9199935
    [Abstract] [Full Text] [Related]

  • 31. 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 04; 89(2-3):303-9. PubMed ID: 20227246
    [Abstract] [Full Text] [Related]

  • 32. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
    Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.
    Am J Med Genet A; 2013 Aug 04; 161A(8):1833-52. PubMed ID: 23813913
    [Abstract] [Full Text] [Related]

  • 33. 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 Aug 04; 54(3):287-91. PubMed ID: 21195811
    [Abstract] [Full Text] [Related]

  • 34. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
    Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH.
    JAMA; 1993 Dec 15; 270(23):2838-42. PubMed ID: 7907669
    [Abstract] [Full Text] [Related]

  • 35. Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.
    Zhang YL, Jing XY, Zhen L, Pan M, Han J, Li DZ.
    Eur J Obstet Gynecol Reprod Biol; 2022 Jul 15; 274():28-32. PubMed ID: 35567955
    [Abstract] [Full Text] [Related]

  • 36. 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 15; 59(10):512-6. PubMed ID: 27633569
    [Abstract] [Full Text] [Related]

  • 37. Protein-Protein and Peptide-Protein Interactions of NudE-Like 1 (Ndel1): A Protein Involved in Schizophrenia.
    Hayashi MA, Felicori LF, Fresqui MA, Yonamine CM.
    Curr Protein Pept Sci; 2015 Oct 15; 16(8):754-67. PubMed ID: 25961396
    [Abstract] [Full Text] [Related]

  • 38. Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay.
    Chen CP, Chang SY, Lin SP, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2018 Oct 15; 57(5):765-768. PubMed ID: 30342670
    [No Abstract] [Full Text] [Related]

  • 39. Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.
    Takahashi S, Tanaka R, Okano S, Okayama A, Suzuki N, Azuma H.
    Mol Cytogenet; 2015 Oct 15; 8():84. PubMed ID: 26523152
    [Abstract] [Full Text] [Related]

  • 40. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
    Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G.
    Mech Dev; 2000 Apr 15; 92(2):263-71. PubMed ID: 10727864
    [Abstract] [Full Text] [Related]

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