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Journal Abstract Search

393 related items for PubMed ID: 32560742

  • 1. Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism.
    Breen MS, Browne A, Hoffman GE, Stathopoulos S, Brennand K, Buxbaum JD, Drapeau E.
    Mol Autism; 2020 Jun 19; 11(1):53. PubMed ID: 32560742
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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 Jul 18; 9():31. PubMed ID: 29719671
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment.
    Ziats CA, Grosvenor LP, Sarasua SM, Thurm AE, Swedo SE, Mahfouz A, Rennert OM, Ziats MN.
    PLoS One; 2019 Aug 27; 14(3):e0213921. PubMed ID: 30875393
    [Abstract] [Full Text] [Related]

  • 8. Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.
    Asta L, Ricciardello A, Cucinotta F, Turriziani L, Boncoddo M, Bellomo F, Angelini J, Gnazzo M, Scandolo G, Pisanò G, Pelagatti F, Chehbani F, Camia M, Persico AM.
    J Neurodev Disord; 2024 Oct 03; 16(1):57. PubMed ID: 39363263
    [Abstract] [Full Text] [Related]

  • 9. Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.
    Costales JL, Kolevzon A.
    Neurotherapeutics; 2015 Jul 03; 12(3):620-30. PubMed ID: 25894671
    [Abstract] [Full Text] [Related]

  • 10. 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 03; 185(7):2211-2233. PubMed ID: 33949759
    [Abstract] [Full Text] [Related]

  • 11. Gait Abnormalities in Children with Phelan-McDermid Syndrome.
    Frank Y, Levy T, Lozano R, Friedman K, Underwood S, Kostic A, Walker H, Kolevzon A.
    J Child Neurol; 2023 Dec 03; 38(13-14):665-671. PubMed ID: 37849292
    [Abstract] [Full Text] [Related]

  • 12. Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons.
    Lewis EMA, Meganathan K, Baldridge D, Gontarz P, Zhang B, Bonni A, Constantino JN, Kroll KL.
    Mol Autism; 2019 Dec 03; 10():51. PubMed ID: 31893020
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 66(5):104732. PubMed ID: 36822569
    [Abstract] [Full Text] [Related]

  • 14. Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research.
    Sakai Y, Okuzono S, Schaaf CP, Ohga S.
    Pediatr Res; 2022 Aug 03; 92(2):373-377. PubMed ID: 34702975
    [Abstract] [Full Text] [Related]

  • 15. The Neurological Manifestations of Phelan-McDermid Syndrome.
    Frank Y.
    Pediatr Neurol; 2021 Sep 03; 122():59-64. PubMed ID: 34325981
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
    Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, Krawisz A, Froehlich W, Bernstein JA, Hallmayer JF, Dolmetsch RE.
    Nature; 2013 Nov 14; 503(7475):267-71. PubMed ID: 24132240
    [Abstract] [Full Text] [Related]

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  • 20. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.
    Kohlenberg TM, Trelles MP, McLarney B, Betancur C, Thurm A, Kolevzon A.
    J Neurodev Disord; 2020 Feb 12; 12(1):7. PubMed ID: 32050889
    [Abstract] [Full Text] [Related]

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