These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

145 related items for PubMed ID: 36306705

  • 1. Familial posterior predominant subcortical band heterotopia caused by a CEP85L missense mutation.
    Moloney PB, Benson KA, Phelan E, O'Regan M, Redmond J.
    Seizure; 2022 Dec; 103():58-60. PubMed ID: 36306705
    [No Abstract] [Full Text] [Related]

  • 2. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
    Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG, University of Washington Center for Mendelian Genomics, Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC.
    Neuron; 2020 Apr 22; 106(2):237-245.e8. PubMed ID: 32097630
    [Abstract] [Full Text] [Related]

  • 3. Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
    Leduc-Pessah H, White-Brown A, Miller E, McMillan HJ, Boycott KM.
    Am J Med Genet A; 2023 Dec 22; 191(12):2878-2883. PubMed ID: 37621218
    [Abstract] [Full Text] [Related]

  • 4. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
    Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L.
    Genes (Basel); 2021 Aug 05; 12(8):. PubMed ID: 34440382
    [Abstract] [Full Text] [Related]

  • 5. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
    Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM.
    J Child Neurol; 2010 Jun 05; 25(6):738-41. PubMed ID: 19808989
    [Abstract] [Full Text] [Related]

  • 6. A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
    Tsai MH, Kuo PW, Myers CT, Li SW, Lin WC, Fu TY, Chang HY, Mefford HC, Chang YC, Tsai JW.
    Eur J Paediatr Neurol; 2016 Sep 05; 20(5):788-94. PubMed ID: 27292316
    [Abstract] [Full Text] [Related]

  • 7. Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.
    Takeshita S, Higuchi M, Suyama M, Koide W, Maki K, Ushijima K, Ban K, Saito M, Kato M, Saitoh S.
    Pediatr Int; 2015 Apr 05; 57(2):321-3. PubMed ID: 25868952
    [Abstract] [Full Text] [Related]

  • 8. Lissencephaly: Update on diagnostics and clinical management.
    Koenig M, Dobyns WB, Di Donato N.
    Eur J Paediatr Neurol; 2021 Nov 05; 35():147-152. PubMed ID: 34731701
    [Abstract] [Full Text] [Related]

  • 9. Interictal hypermetabolic subcortical band on brain FDG-PET in doublecortin mutation.
    Fong J, Wu G, Wyllie E, Gupta A.
    Neurology; 2008 Aug 12; 71(7):535. PubMed ID: 18695165
    [No Abstract] [Full Text] [Related]

  • 10. Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.
    Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E.
    J Child Neurol; 2012 Dec 12; 27(12):1534-40. PubMed ID: 22408144
    [Abstract] [Full Text] [Related]

  • 11. Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
    Delatycki MB, Leventer RJ.
    Eur J Hum Genet; 2009 Jun 12; 17(6):701-2. PubMed ID: 19050725
    [No Abstract] [Full Text] [Related]

  • 12. Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.
    Jang MA, Woo HI, Kim JW, Lee J, Ki CS.
    Pediatr Neurol; 2013 May 12; 48(5):411-4. PubMed ID: 23583063
    [Abstract] [Full Text] [Related]

  • 13. Subcortical band heterotopia disrupting white matter tracts.
    Zhou DJ, Chen J, White ML.
    J Clin Neurosci; 2023 Sep 12; 115():129-131. PubMed ID: 37549436
    [No Abstract] [Full Text] [Related]

  • 14. The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
    Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N.
    Neurogenetics; 2008 Oct 12; 9(4):277-85. PubMed ID: 18685874
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. [Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy].
    Li W, Zhang MP, Hou ZJ, Zeng T, Tang B, Liu XR.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb 12; 30(1):74-8. PubMed ID: 23450485
    [Abstract] [Full Text] [Related]

  • 19. Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene.
    Parisi P, Miano S, Mei D, Paolino MC, Castaldo R, Villa MP.
    Brain Dev; 2010 Jun 12; 32(6):511-5. PubMed ID: 19619967
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.