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Journal Abstract Search

215 related items for PubMed ID: 35093163

  • 41. Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in shank3 zebrafish models.
    Kozol RA, Dallman JE.
    F1000Res; 2023; 12():84. PubMed ID: 37868296
    [Abstract] [Full Text] [Related]

  • 42. Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.
    Guillory SB, Baskett VZ, Grosman HE, McLaughlin CS, Isenstein EL, Wilkinson E, Weissman J, Britvan B, Trelles MP, Halpern DB, Buxbaum JD, Siper PM, Wang AT, Kolevzon A, Foss-Feig JH.
    J Neurodev Disord; 2021 Dec 04; 13(1):58. PubMed ID: 34863106
    [Abstract] [Full Text] [Related]

  • 43. 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]

  • 44. Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability.
    Torossian A, Saré RM, Loutaev I, Smith CB.
    Neurobiol Dis; 2021 Jan 06; 148():105213. PubMed ID: 33276083
    [Abstract] [Full Text] [Related]

  • 45. 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 06; 66(7):104771. PubMed ID: 37120079
    [Abstract] [Full Text] [Related]

  • 46. Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.
    Hao Y, Liu Y, Yang J, Li X, Luo F, Geng Q, Li S, Li P, Wu W, Xie J.
    Front Genet; 2022 Jul 06; 13():961196. PubMed ID: 36118903
    [Abstract] [Full Text] [Related]

  • 47. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
    Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P, Spanish PMS Working Group.
    Front Genet; 2022 Jul 06; 13():652454. PubMed ID: 35495150
    [Abstract] [Full Text] [Related]

  • 48. Consensus recommendations on lymphedema in Phelan-McDermid syndrome.
    Damstra RJ, Vignes S, European Phelan-McDermid syndrome consortium, Mansour S.
    Eur J Med Genet; 2023 Jun 06; 66(6):104767. PubMed ID: 37075886
    [Abstract] [Full Text] [Related]

  • 49. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
    Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A.
    Am J Med Genet A; 2014 Jul 06; 164A(7):1666-76. PubMed ID: 24700646
    [Abstract] [Full Text] [Related]

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  • 51. Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
    Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD.
    J Child Neurol; 2015 Dec 06; 30(14):1861-70. PubMed ID: 26350728
    [Abstract] [Full Text] [Related]

  • 52. Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
    Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L.
    Clin Genet; 2023 Aug 06; 104(2):198-209. PubMed ID: 37198960
    [Abstract] [Full Text] [Related]

  • 53. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
    Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C.
    Mol Autism; 2019 Aug 06; 10():50. PubMed ID: 31879555
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  • 55. Zinc deficiency and supplementation in autism spectrum disorder and Phelan-McDermid syndrome.
    Alsufiani HM, Alkhanbashi AS, Laswad NAB, Bakhadher KK, Alghamdi SA, Tayeb HO, Tarazi FI.
    J Neurosci Res; 2022 Apr 06; 100(4):970-978. PubMed ID: 35114017
    [Abstract] [Full Text] [Related]

  • 56. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
    Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S, Farrell C, Edelmann LJ, Buxbaum JD.
    J Neurodev Disord; 2014 Apr 06; 6(1):39. PubMed ID: 25784960
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  • 58. Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study.
    Serrada-Tejeda S, Cuadrado ML, Martínez-Piédrola RM, Máximo-Bocanegra N, Sánchez-Herrera-Baeza P, Camacho-Montaño LR, Pérez-de-Heredia-Torres M.
    Eur J Pediatr; 2022 Aug 06; 181(8):3141-3152. PubMed ID: 35840778
    [Abstract] [Full Text] [Related]

  • 59. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
    Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M, Developmental Synaptopathies Consortium.
    Pediatr Neurol; 2019 Jan 06; 90():37-43. PubMed ID: 30396833
    [Abstract] [Full Text] [Related]

  • 60. Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder.
    Kabitzke PA, Brunner D, He D, Fazio PA, Cox K, Sutphen J, Thiede L, Sabath E, Hanania T, Alexandrov V, Rasmusson R, Spooren W, Ghosh A, Feliciano P, Biemans B, Benedetti M, Clayton AL.
    Genes Brain Behav; 2018 Jan 06; 17(1):4-22. PubMed ID: 28753255
    [Abstract] [Full Text] [Related]

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