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139 related items for PubMed ID: 35446980

  • 1. [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
    Zhao J, Yang X, Li J, Wang H, Zhang W, Fang F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr 10; 39(4):421-424. PubMed ID: 35446980
    [Abstract] [Full Text] [Related]

  • 2. 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 10; 63(3):103735. PubMed ID: 31415821
    [Abstract] [Full Text] [Related]

  • 3. [Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
    Wang Q, Yang Y, Liu L, Tie X, Lei H, Zhang L, Che F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct 10; 39(10):1111-1115. PubMed ID: 36184094
    [Abstract] [Full Text] [Related]

  • 4. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
    Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J.
    Nat Genet; 2010 Jun 10; 42(6):486-8. PubMed ID: 20473311
    [Abstract] [Full Text] [Related]

  • 5. 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 10; 23(3):289-98. PubMed ID: 24306141
    [Abstract] [Full Text] [Related]

  • 6. [Identification of a novel nonsense IQSEC2 variant in a child with X-linked intellectual disability].
    Wu R, Tang W, Qiu K, Tang D, Li X, Luo X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug 10; 37(8):823-827. PubMed ID: 32761587
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 24(1):54-58. PubMed ID: 31829726
    [Abstract] [Full Text] [Related]

  • 8. [Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].
    Li W, Fu T, Tamang S, Wang Y, Wang H, Zhuo Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun 10; 41(6):730-733. PubMed ID: 38818559
    [Abstract] [Full Text] [Related]

  • 9. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI.
    Genes (Basel); 2020 Jan 02; 11(1):. PubMed ID: 31906484
    [Abstract] [Full Text] [Related]

  • 10. [Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
    Li Y, Qin L, Yang K, Chen X, Zhu H, Mi L, Wang Y, Ma X, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May 10; 41(5):533-539. PubMed ID: 38684296
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 22; 40(1):5-24. PubMed ID: 30328660
    [Abstract] [Full Text] [Related]

  • 13. 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 22; 21(4):837-849. PubMed ID: 30206421
    [Abstract] [Full Text] [Related]

  • 14. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
    Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.
    Eur J Hum Genet; 2017 Jun 22; 25(6):763-767. PubMed ID: 28295038
    [Abstract] [Full Text] [Related]

  • 15. IQSEC2 and X-linked syndromal intellectual disability.
    Alexander-Bloch AF, McDougle CJ, Ullman Z, Sweetser DA.
    Psychiatr Genet; 2016 Jun 22; 26(3):101-8. PubMed ID: 27010919
    [Abstract] [Full Text] [Related]

  • 16. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
    Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.
    Am J Med Genet A; 2017 Oct 22; 173(10):2814-2820. PubMed ID: 28815955
    [Abstract] [Full Text] [Related]

  • 17. Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.
    Accogli A, Eric Jarvis G, Schiavetto A, Lai L, Amirali EL, Jimenez Cruz DA, Rivière JB, Trakadis Y.
    J Genet; 2020 Oct 22; 99():. PubMed ID: 32529990
    [Abstract] [Full Text] [Related]

  • 18. A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing.
    Zou Q, Zheng J, Zhang R, Fang Y, Cai C.
    Psychiatr Genet; 2019 Dec 22; 29(6):243-247. PubMed ID: 31490346
    [Abstract] [Full Text] [Related]

  • 19. IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
    Shoubridge C, Dudding-Byth T, Pasquier L, Goel H, Yap P, McConnell V.
    Clin Genet; 2022 Jul 22; 102(1):72-77. PubMed ID: 35347702
    [Abstract] [Full Text] [Related]

  • 20. 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 22; 24(8):1117-23. PubMed ID: 26733290
    [Abstract] [Full Text] [Related]

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