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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

267 related items for PubMed ID: 32050889

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  • 3. 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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  • 4. 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 Sep 30; 9():31. PubMed ID: 29719671
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  • 8. Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports.
    Serret S, Thümmler S, Dor E, Vesperini S, Santos A, Askenazy F.
    BMC Psychiatry; 2015 May 07; 15():107. PubMed ID: 25947967
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  • 9. 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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  • 10. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
    Gergoudis K, Weinberg A, Templin J, Farmer C, Durkin A, Weissman J, Siper P, Foss-Feig J, Del Pilar Trelles M, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Sahin M, Soorya L, Thurm A, Kolevzon A, Developmental Synaptopathies ConsortiumDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA..
    Autism Res; 2020 Aug 03; 13(8):1383-1396. PubMed ID: 32406614
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  • 11. Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
    Landlust AM, Koza SA, Carbin M, Walinga M, Robert S, Cooke J, Vyshka K, European Phelan-McDermid syndrome consortium, van Balkom IDC, van Ravenswaaij-Arts C.
    Eur J Med Genet; 2023 Jul 03; 66(7):104771. PubMed ID: 37120079
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  • 12. 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 03; 66(7):104754. PubMed ID: 37003575
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  • 15. 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
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  • 19. Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.
    Goodspeed K, Bliss G, Linnehan D.
    Orphanet J Rare Dis; 2020 Jun 16; 15(1):152. PubMed ID: 32546186
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