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Journal Abstract Search

210 related items for PubMed ID: 31439632

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  • 4. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
    Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.
    Genet Med; 2019 Apr; 21(4):837-849. PubMed ID: 30206421
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  • 6. IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex.
    Mehta A, Shirai Y, Kouyama-Suzuki E, Zhou M, Yoshizawa T, Yanagawa T, Mori T, Tabuchi K.
    Cells; 2021 Oct 12; 10(10):. PubMed ID: 34685703
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  • 7. Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.
    Fieremans N, Van Esch H, de Ravel T, Van Driessche J, Belet S, Bauters M, Froyen G.
    Eur J Med Genet; 2015 May 12; 58(5):324-7. PubMed ID: 25858702
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  • 8. The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome.
    Briševac D, Scholz R, Du D, Elagabani MN, Köhr G, Kornau HC.
    J Neurochem; 2021 May 12; 157(3):666-683. PubMed ID: 33125726
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  • 9. Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.
    Shokhen M, Walikonis R, Uversky VN, Allbeck A, Zezelic C, Feldman D, Levy NS, Levy AP.
    J Biomol Struct Dyn; 2024 May 12; 42(3):1268-1279. PubMed ID: 37078745
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  • 10. A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
    Madrigal I, Alvarez-Mora MI, Rosell J, Rodríguez-Revenga L, Karlberg O, Sauer S, Syvänen AC, Mila M.
    Eur J Hum Genet; 2016 Aug 12; 24(8):1117-23. PubMed ID: 26733290
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  • 11. IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
    Shoubridge C, Harvey RJ, Dudding-Byth T.
    Hum Mutat; 2019 Jan 12; 40(1):5-24. PubMed ID: 30328660
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  • 12. Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
    Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B.
    Int J Mol Sci; 2022 Aug 22; 23(16):. PubMed ID: 36012761
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  • 13. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
    Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP.
    Eur J Med Genet; 2020 Mar 22; 63(3):103735. PubMed ID: 31415821
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  • 15. Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.
    Jada R, Borisov V, Laury E, Halpert S, Levy NS, Wagner S, Netser S, Walikonis R, Carmi I, Berlin S, Levy AP.
    Int J Mol Sci; 2023 Feb 15; 24(4):. PubMed ID: 36835332
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  • 16. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
    Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S.
    J Genet Couns; 2014 Jun 15; 23(3):289-98. PubMed ID: 24306141
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  • 18. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
    Epilepsia; 2016 Nov 15; 57(11):1858-1869. PubMed ID: 27665735
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  • 19. A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family.
    Choi MH, Yang JO, Min JS, Lee JJ, Jun SY, Lee YJ, Yoon JY, Jeon SJ, Byeon I, Kang JW, Kim NS.
    Genet Test Mol Biomarkers; 2020 Jan 15; 24(1):54-58. PubMed ID: 31829726
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