BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 37232218)

  • 1. Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
    Smith MS; Sarasua SM; Rogers C; Phelan K; Boccuto L
    Clin Genet; 2023 Oct; 104(4):472-478. PubMed ID: 37232218
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Consensus recommendations on lymphedema in Phelan-McDermid syndrome.
    Damstra RJ; Vignes S; ; Mansour S
    Eur J Med Genet; 2023 Jun; 66(6):104767. PubMed ID: 37075886
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

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

  • 8. 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]  

  • 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; 105(5):459-469. PubMed ID: 38414139
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 39(3):749-760. PubMed ID: 37733098
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 13(6):. PubMed ID: 35741804
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
    Levy T; Gluckman J; Siper PM; Halpern D; Zweifach J; Filip-Dhima R; Holder JL; Trelles MP; Johnson K; Bernstein JA; Berry-Kravis E; Powell CM; Soorya LV; Thurm A; Buxbaum JD; Sahin M; Kolevzon A; Srivastava S;
    J Neurodev Disord; 2024 May; 16(1):25. PubMed ID: 38730350
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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(1):7. PubMed ID: 32050889
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

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

  • 20. 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; 12(8):. PubMed ID: 34440366
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.