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Journal Abstract Search

717 related items for PubMed ID: 31878865

  • 1. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
    Baker EK, Arpone M, Vera SA, Bretherton L, Ure A, Kraan CM, Bui M, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field MJ, Cohen J, Maria LS, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE.
    J Neurodev Disord; 2019 Dec 26; 11(1):41. PubMed ID: 31878865
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  • 6. Mosaicism in Fragile X syndrome: A family case series.
    Saldarriaga W, González-Teshima LY, Forero-Forero JV, Tang HT, Tassone F.
    J Intellect Disabil; 2022 Sep 26; 26(3):800-807. PubMed ID: 33998336
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  • 7. Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
    Hwang YT, Aliaga SM, Arpone M, Francis D, Li X, Chong B, Slater HR, Rogers C, Bretherton L, Hunter M, Heard R, Godler DE.
    Am J Med Genet A; 2016 Dec 26; 170(12):3327-3332. PubMed ID: 27696642
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  • 12. Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.
    Chaudhary AG, Hussein IR, Abuzenadah A, Gari M, Bassiouni R, Sogaty S, Lary S, Al-Quaiti M, Al Balwi M, Al Qahtani M.
    Pediatr Neurol; 2014 Apr 26; 50(4):368-76. PubMed ID: 24630283
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  • 13. Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder.
    Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ.
    J Dev Behav Pediatr; 2020 Dec 26; 41(9):724-728. PubMed ID: 32947579
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  • 14. Size and methylation mosaicism in males with Fragile X syndrome.
    Jiraanont P, Kumar M, Tang HT, Espinal G, Hagerman PJ, Hagerman RJ, Chutabhakdikul N, Tassone F.
    Expert Rev Mol Diagn; 2017 Nov 26; 17(11):1023-1032. PubMed ID: 28929824
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  • 15. A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.
    Kim JK, Jeong JE, Choi JM, Kim GH, Yoo HW.
    J Hum Genet; 2020 Jun 26; 65(6):551-555. PubMed ID: 32144408
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  • 16. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
    Aliaga SM, Slater HR, Francis D, Du Sart D, Li X, Amor DJ, Alliende AM, Santa Maria L, Faundes V, Morales P, Trigo C, Salas I, Curotto B, Godler DE.
    Clin Chem; 2016 Feb 26; 62(2):343-52. PubMed ID: 26715660
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  • 17. Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.
    Pandelache A, Francis D, Oertel R, Dickson R, Sachdev R, Ling L, Gamage D, Godler DE.
    Genes (Basel); 2021 May 24; 12(6):. PubMed ID: 34073864
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  • 18. Phenotypic variability to medication management: an update on fragile X syndrome.
    Elhawary NA, AlJahdali IA, Abumansour IS, Azher ZA, Falemban AH, Madani WM, Alosaimi W, Alghamdi G, Sindi IA.
    Hum Genomics; 2023 Jul 07; 17(1):60. PubMed ID: 37420260
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  • 20. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
    Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E.
    Am J Med Genet A; 2022 Mar 07; 188(3):858-866. PubMed ID: 35148024
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