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Journal Abstract Search

204 related items for PubMed ID: 27577546

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  • 3. A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome.
    Fastman J, Foss-Feig J, Frank Y, Halpern D, Harony-Nicolas H, Layton C, Sandin S, Siper P, Tang L, Trelles P, Zweifach J, Buxbaum JD, Kolevzon A.
    Mol Autism; 2021 Sep 30; 12(1):62. PubMed ID: 34593045
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  • 4. A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs.
    Van den Heuvel ER, Zwanenburg RJ, Van Ravenswaaij-Arts CM.
    Stat Methods Med Res; 2017 Apr 30; 26(2):766-775. PubMed ID: 25411323
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  • 5. 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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  • 8. 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 18; 66(7):104754. PubMed ID: 37003575
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  • 9. 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 18; 38(13-14):665-671. PubMed ID: 37849292
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  • 13. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
    Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder JL, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S, Developmental Synaptopathies Consortium.
    J Neurodev Disord; 2024 May 10; 16(1):25. PubMed ID: 38730350
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  • 14. Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.
    Cammarata-Scalisi F, Callea M, Martinelli D, Willoughby CE, Tadich AC, Araya Castillo M, Lacruz-Rengel MA, Medina M, Grimaldi P, Bertini E, Nevado J.
    Genes (Basel); 2022 Mar 12; 13(3):. PubMed ID: 35328058
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  • 16. 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
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  • 17. 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 Oct 03; 14(3):e0213921. PubMed ID: 30875393
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  • 19. Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.
    Zwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM.
    J Neurodev Disord; 2016 Oct 03; 8():16. PubMed ID: 27118998
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  • 20. 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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