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Journal Abstract Search

218 related items for PubMed ID: 39363263

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  • 2. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
    Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR.
    J Neurodev Disord; 2019 Jul 18; 11(1):13. PubMed ID: 31319798
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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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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Phelan K, Rogers RC, Boccuto L.
    ; 1993 Sep 30. PubMed ID: 20301377
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  • 8. Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.
    Richards C, Powis L, Moss J, Stinton C, Nelson L, Oliver C.
    J Neurodev Disord; 2017 Nov 10; 9(1):37. PubMed ID: 29126394
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  • 9. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
    De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL, Betancur C, Buxbaum JD, Kolevzon A.
    Mol Autism; 2018 Nov 10; 9():31. PubMed ID: 29719671
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  • 11. Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD.
    Tavassoli T, Layton C, Levy T, Rowe M, George-Jones J, Zweifach J, Lurie S, Buxbaum JD, Kolevzon A, Siper PM.
    Genes (Basel); 2021 Jun 26; 12(7):. PubMed ID: 34206779
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  • 12. Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
    Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T.
    Eur J Med Genet; 2023 May 26; 66(5):104732. PubMed ID: 36822569
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  • 19. Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.
    Li S, Xi KW, Liu T, Zhang Y, Zhang M, Zeng LD, Li J.
    BMC Med Genomics; 2020 Oct 06; 13(1):146. PubMed ID: 33023580
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  • 20. Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene.
    Drapeau E, Riad M, Kajiwara Y, Buxbaum JD.
    eNeuro; 2018 Oct 06; 5(3):. PubMed ID: 30302388
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