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Journal Abstract Search

298 related items for PubMed ID: 28963116

  • 21. [Advance of research on Phelan-McDermid syndrome].
    Li S, Xi K, Liu T, Zhang Y, Li J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep 10; 38(9):917-920. PubMed ID: 34487544
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  • 23. Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.
    Lei D, Li S, Banerjee S, Zhang H, Li C, Hou S, Chen D, Yan H, Li H, Peng HH, Liu S, Zhang X, Peng Z, Wang J, Yang H, Huang H, Wu J.
    Oncotarget; 2016 Dec 06; 7(49):80327-80335. PubMed ID: 27741506
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  • 24. 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
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  • 25. A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.
    Simenson K, Õiglane-Shlik E, Teek R, Kuuse K, Õunap K.
    Am J Med Genet A; 2014 Mar 06; 164A(3):806-9. PubMed ID: 24375995
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  • 29. 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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  • 30. [Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene].
    I DV, Proskokova TN.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2023 Aug 27; 123(8):124-128. PubMed ID: 37655421
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  • 31. Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.
    Dyar B, Meaddough E, Sarasua SM, Rogers C, Phelan K, Boccuto L.
    Genes (Basel); 2021 Jul 30; 12(8):. PubMed ID: 34440366
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  • 32. A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.
    Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E.
    Eur J Paediatr Neurol; 2017 Nov 30; 21(6):902-906. PubMed ID: 28754298
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  • 33. Phelan-McDermid syndrome: a classification system after 30 years of experience.
    Phelan K, Boccuto L, Powell CM, Boeckers TM, van Ravenswaaij-Arts C, Rogers RC, Sala C, Verpelli C, Thurm A, Bennett WE, Winrow CJ, Garrison SR, Toro R, Bourgeron T.
    Orphanet J Rare Dis; 2022 Jan 29; 17(1):27. PubMed ID: 35093143
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  • 34. Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
    Berg EL, Copping NA, Rivera JK, Pride MC, Careaga M, Bauman MD, Berman RF, Lein PJ, Harony-Nicolas H, Buxbaum JD, Ellegood J, Lerch JP, Wöhr M, Silverman JL.
    Autism Res; 2018 Apr 29; 11(4):587-601. PubMed ID: 29377611
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  • 35. 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 29; 185(7):2211-2233. PubMed ID: 33949759
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  • 36. 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 Jul 29; 14(3):e0213921. PubMed ID: 30875393
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  • 37. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.
    J Med Genet; 2011 Nov 29; 48(11):761-6. PubMed ID: 21984749
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  • 38. 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 29; 148():105213. PubMed ID: 33276083
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  • 39. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.
    Mitz AR, Boccuto L, Thurm A.
    Clin Genet; 2024 May 29; 105(5):459-469. PubMed ID: 38414139
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  • 40. 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 29; 66(5):104732. PubMed ID: 36822569
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