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Journal Abstract Search

165 related items for PubMed ID: 33369188

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  • 5. Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
    Carminho-Rodrigues MT, Steel D, Sousa SB, Brandt G, Guipponi M, Laurent S, Fokstuen S, Moren A, Zacharia A, Dirren E, Oliveira R, Kurian MA, Burkhard PR, Bally JF.
    Am J Med Genet A; 2020 Sep; 182(9):2129-2132. PubMed ID: 32627382
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  • 6. Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
    Khamirani HJ, Zoghi S, Namdar ZM, Kamal N, Dianatpour M, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dastgheib SA.
    Ann Hum Genet; 2022 Jan; 86(1):52-62. PubMed ID: 34729769
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  • 8. DNA methylation episignature in Gabriele-de Vries syndrome.
    Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D.
    Genet Med; 2022 Apr; 24(4):905-914. PubMed ID: 35027293
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  • 14. YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
    Pereira MF, Finazzi V, Rizzuti L, Aprile D, Aiello V, Mollica L, Riva M, Soriani C, Dossena F, Shyti R, Castaldi D, Tenderini E, Carminho-Rodrigues MT, Bally JF, de Vries BBA, Gabriele M, Vitriolo A, Testa G.
    bioRxiv; 2024 Feb 17. PubMed ID: 38405909
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  • 15. A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.
    Zhang Y, Lin CM, Zheng XL, Abuduxikuer K.
    Mol Genet Genomic Med; 2020 Nov 17; 8(11):e1492. PubMed ID: 32926563
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  • 17. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.
    Tessadori F, Rehman AU, Giltay JC, Xia F, Streff H, Duran K, Bakkers J, Lalani SR, van Haaften G.
    Eur J Hum Genet; 2020 May 17; 28(5):674-678. PubMed ID: 31804630
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  • 18. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
    Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T.
    Eur J Hum Genet; 2021 Apr 17; 29(4):625-636. PubMed ID: 33437032
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