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Journal Abstract Search

344 related items for PubMed ID: 30875393

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  • 5. Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
    Yin R, Wack M, Hassen-Khodja C, McDuffie MT, Bliss G, Horn EJ, Kothari C, McLarney B, Davis R, Hanson K, O'Boyle M, Betancur C, Avillach P.
    Mol Autism; 2024 Sep 30; 15(1):40. PubMed ID: 39350236
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  • 10. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
    Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA, European Phelan-McDermid syndrome consortiumUniversity of Groningen, University Medical Centre Groningen, Dept Genetics, Groningen, Netherlands., Hennekam RC.
    Eur J Med Genet; 2023 Jul 30; 66(7):104754. PubMed ID: 37003575
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  • 11. A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
    Xu N, Lv H, Yang T, Du X, Sun Y, Xiao B, Fan Y, Luo X, Zhan Y, Wang L, Li F, Yu Y.
    Orphanet J Rare Dis; 2020 Nov 30; 15(1):335. PubMed ID: 33256793
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  • 14. Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
    Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.
    J Med Genet; 2018 Apr 30; 55(4):269-277. PubMed ID: 29378768
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  • 15. Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
    Ricciardello A, Tomaiuolo P, Persico AM.
    Am J Med Genet A; 2021 Jul 30; 185(7):2211-2233. PubMed ID: 33949759
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  • 17. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
    Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE.
    Orphanet J Rare Dis; 2015 Aug 27; 10():105. PubMed ID: 26306707
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