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Journal Abstract Search

248 related items for PubMed ID: 38414139

  • 1. 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; 105(5):459-469. PubMed ID: 38414139
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  • 2. 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; 66(5):104732. PubMed ID: 36822569
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  • 3. 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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  • 4. 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 29; 66(7):104754. PubMed ID: 37003575
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  • 7. 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 29; 164A(7):1666-76. PubMed ID: 24700646
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  • 8. 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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  • 9. 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 Sep 30; 14(3):e0213921. PubMed ID: 30875393
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  • 15. Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
    Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.
    J Med Genet; 2018 Apr 30; 55(4):269-277. PubMed ID: 29378768
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  • 16. Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.
    McCoy MD, Sarasua SM, DeLuca JM, Davis S, Rogers RC, Phelan K, Boccuto L.
    Pediatr Nephrol; 2024 Mar 30; 39(3):749-760. PubMed ID: 37733098
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  • 17. Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
    Smith MS, Sarasua SM, Rogers C, Phelan K, Boccuto L.
    Clin Genet; 2023 Oct 30; 104(4):472-478. PubMed ID: 37232218
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