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Journal Abstract Search

204 related items for PubMed ID: 27577546

  • 21. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.
    Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR.
    Genet Med; 2014 Apr; 16(4):318-28. PubMed ID: 24136618
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  • 24. Characterisation of the clinical phenotype in Phelan-McDermid syndrome.
    Burdeus-Olavarrieta M, San José-Cáceres A, García-Alcón A, González-Peñas J, Hernández-Jusdado P, Parellada-Redondo M.
    J Neurodev Disord; 2021 Jul 10; 13(1):26. PubMed ID: 34246244
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  • 26. Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.
    Costales JL, Kolevzon A.
    Neurotherapeutics; 2015 Jul 10; 12(3):620-30. PubMed ID: 25894671
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  • 32. 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 10; 13(8):1383-1396. PubMed ID: 32406614
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  • 34. Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium.
    Egger JIM, Verhoeven WMA, Groenendijk-Reijenga R, Kant SG.
    BMJ Case Rep; 2017 Sep 28; 2017():. PubMed ID: 28963116
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  • 35. 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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  • 39. 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.
    Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F.
    Transl Psychiatry; 2018 Aug 08; 8(1):146. PubMed ID: 30089781
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