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142 related items for PubMed ID: 36833418

  • 1. Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor.
    Moffitt BA, Sarasua SM, Ivankovic D, Ward LD, Valentine K, Bennett WE, Rogers C, Phelan K, Boccuto L.
    Genes (Basel); 2023 Feb 15; 14(2):. PubMed ID: 36833418
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  • 2. 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 15; 66(7):104754. PubMed ID: 37003575
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  • 5. A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome.
    Sethuram S, Levy T, Foss-Feig J, Halpern D, Sandin S, Siper PM, Walker H, Buxbaum JD, Rapaport R, Kolevzon A.
    Mol Autism; 2022 Jan 29; 13(1):6. PubMed ID: 35093163
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  • 6. 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 Jan 29; 9():31. PubMed ID: 29719671
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  • 7. 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 29; 104(2):198-209. PubMed ID: 37198960
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  • 8. 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 Aug 29; 13():961196. PubMed ID: 36118903
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  • 9. 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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  • 10. 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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  • 11. 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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  • 12. Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
    Smith MS, Sarasua SM, Rogers C, Phelan K, Boccuto L.
    Clin Genet; 2023 Oct 29; 104(4):472-478. PubMed ID: 37232218
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  • 13. A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy.
    Xie RJ, Li TX, Sun C, Cheng C, Zhao J, Xu H, Liu Y.
    Ital J Pediatr; 2021 Mar 04; 47(1):49. PubMed ID: 33663540
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  • 15. 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 04; 66(5):104732. PubMed ID: 36822569
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  • 18. 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
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  • 19. 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 Oct 06; 13():652454. PubMed ID: 35495150
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  • 20. 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 Oct 06; 14(3):e0213921. PubMed ID: 30875393
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