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Journal Abstract Search

245 related items for PubMed ID: 35093143

  • 21. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
    Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L.
    PLoS One; 2021; 16(7):e0253859. PubMed ID: 34228749
    [Abstract] [Full Text] [Related]

  • 22. Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
    Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A.
    Eur J Hum Genet; 2018 Mar; 26(3):293-302. PubMed ID: 29358616
    [Abstract] [Full Text] [Related]

  • 23. State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.
    McCoy MD, Sarasua SM, DeLuca JM, Davis S, Phelan K, Rogers RC, Boccuto L.
    Genes (Basel); 2022 Jun 10; 13(6):. PubMed ID: 35741804
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. 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 30; 66(6):104767. PubMed ID: 37075886
    [Abstract] [Full Text] [Related]

  • 26. 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 30; 66(7):104771. PubMed ID: 37120079
    [Abstract] [Full Text] [Related]

  • 27. DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
    Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B.
    Clin Epigenetics; 2021 Jan 06; 13(1):2. PubMed ID: 33407854
    [Abstract] [Full Text] [Related]

  • 28. A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.
    Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E.
    Am J Med Genet A; 2011 Feb 06; 155A(2):403-8. PubMed ID: 21271662
    [Abstract] [Full Text] [Related]

  • 29. 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
    [Abstract] [Full Text] [Related]

  • 30. Clinical characterization of novel chromosome 22q13 microdeletions.
    Ha JF, Ahmad A, Lesperance MM.
    Int J Pediatr Otorhinolaryngol; 2017 Apr 06; 95():121-126. PubMed ID: 28576520
    [Abstract] [Full Text] [Related]

  • 31. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
    Upadia J, Gonzales PR, Atkinson TP, Schroeder HW, Robin NH, Rudy NL, Mikhail FM.
    Am J Med Genet A; 2018 Dec 06; 176(12):2791-2797. PubMed ID: 30216695
    [Abstract] [Full Text] [Related]

  • 32. Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
    Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D, European Phelan-McDermid syndrome consortiumUniversity of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands., Evans DG, van Ravenswaaij-Arts CMA, Kant SG.
    Eur J Med Genet; 2023 Jul 06; 66(7):104773. PubMed ID: 37120077
    [Abstract] [Full Text] [Related]

  • 33. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.
    Kohlenberg TM, Trelles MP, McLarney B, Betancur C, Thurm A, Kolevzon A.
    J Neurodev Disord; 2020 Feb 12; 12(1):7. PubMed ID: 32050889
    [Abstract] [Full Text] [Related]

  • 34. Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
    Jain L, Oberman LM, Beamer L, Cascio L, May M, Srikanth S, Skinner C, Jones K, Allen B, Rogers C, Phelan K, Kaufmann WE, DuPont B, Sarasua SM, Boccuto L.
    Clin Genet; 2022 Jan 12; 101(1):87-100. PubMed ID: 34664257
    [Abstract] [Full Text] [Related]

  • 35. 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 12; 30(14):1861-70. PubMed ID: 26350728
    [Abstract] [Full Text] [Related]

  • 36. Sleep and Phelan-McDermid Syndrome: Lessons from the International Registry and the scientific literature.
    Moffitt BA, Sarasua SM, Ward L, Ivankovic D, Valentine K, Rogers C, Phelan K, Boccuto L.
    Mol Genet Genomic Med; 2022 Oct 12; 10(10):e2035. PubMed ID: 35996993
    [Abstract] [Full Text] [Related]

  • 37. Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
    de Coo IFM, Jesse S, Le TL, Sala C, European Phelan-McDermid syndrome consortiumUniversity Medical Centre Groningen, the Netherlands..
    Eur J Med Genet; 2023 Jun 12; 66(6):104746. PubMed ID: 36967043
    [Abstract] [Full Text] [Related]

  • 38. 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 Jun 12; 13():961196. PubMed ID: 36118903
    [Abstract] [Full Text] [Related]

  • 39. Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.
    Asta L, Ricciardello A, Cucinotta F, Turriziani L, Boncoddo M, Bellomo F, Angelini J, Gnazzo M, Scandolo G, Pisanò G, Pelagatti F, Chehbani F, Camia M, Persico AM.
    J Neurodev Disord; 2024 Oct 03; 16(1):57. PubMed ID: 39363263
    [Abstract] [Full Text] [Related]

  • 40. Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.
    Goodspeed K, Bliss G, Linnehan D.
    Orphanet J Rare Dis; 2020 Jun 16; 15(1):152. PubMed ID: 32546186
    [Abstract] [Full Text] [Related]

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