BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 36822569)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
    Xu N; Lv H; Yang T; Du X; Sun Y; Xiao B; Fan Y; Luo X; Zhan Y; Wang L; Li F; Yu Y
    Orphanet J Rare Dis; 2020 Nov; 15(1):335. PubMed ID: 33256793
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by
    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; 9():31. PubMed ID: 29719671
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 17(1):27. PubMed ID: 35093143
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; ; Hennekam RC
    Eur J Med Genet; 2023 Jul; 66(7):104754. PubMed ID: 37003575
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 13(1):146. PubMed ID: 33023580
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 164A(7):1666-76. PubMed ID: 24700646
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
    Samogy-Costa CI; Varella-Branco E; Monfardini F; Ferraz H; Fock RA; Barbosa RHA; Pessoa ALS; Perez ABA; Lourenço N; Vibranovski M; Krepischi A; Rosenberg C; Passos-Bueno MR
    J Neurodev Disord; 2019 Jul; 11(1):13. PubMed ID: 31319798
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 185(7):2211-2233. PubMed ID: 33949759
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 14(3):e0213921. PubMed ID: 30875393
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 13():961196. PubMed ID: 36118903
    [No Abstract]   [Full Text] [Related]  

  • 13. 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; 10():105. PubMed ID: 26306707
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 104(2):198-209. PubMed ID: 37198960
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Neurological Manifestations of Phelan-McDermid Syndrome.
    Frank Y
    Pediatr Neurol; 2021 Sep; 122():59-64. PubMed ID: 34325981
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13.
    Sarasua SM; DeLuca JM; Rogers C; Phelan K; Rennert L; Powder KE; Weisensee K; Boccuto L
    Genes (Basel); 2023 Feb; 14(3):. PubMed ID: 36980813
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 164A(3):806-9. PubMed ID: 24375995
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.
    Cammarata-Scalisi F; Callea M; Martinelli D; Willoughby CE; Tadich AC; Araya Castillo M; Lacruz-Rengel MA; Medina M; Grimaldi P; Bertini E; Nevado J
    Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328058
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 176(12):2791-2797. PubMed ID: 30216695
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.