BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

652 related articles for article (PubMed ID: 26306707)

  • 1. 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]  

  • 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. Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.
    Richards C; Powis L; Moss J; Stinton C; Nelson L; Oliver C
    J Neurodev Disord; 2017 Nov; 9(1):37. PubMed ID: 29126394
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.
    Ponson L; Gomot M; Blanc R; Barthelemy C; Roux S; Munnich A; Romana S; Aguillon-Hernandez N; Malan V; Bonnet-Brilhault F
    Transl Psychiatry; 2018 Aug; 8(1):146. PubMed ID: 30089781
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD.
    Tavassoli T; Layton C; Levy T; Rowe M; George-Jones J; Zweifach J; Lurie S; Buxbaum JD; Kolevzon A; Siper PM
    Genes (Basel); 2021 Jun; 12(7):. PubMed ID: 34206779
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome.
    Mieses AM; Tavassoli T; Li E; Soorya L; Lurie S; Wang AT; Siper PM; Kolevzon A
    J Autism Dev Disord; 2016 Jul; 46(7):2508-13. PubMed ID: 26914612
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
    Berg EL; Copping NA; Rivera JK; Pride MC; Careaga M; Bauman MD; Berman RF; Lein PJ; Harony-Nicolas H; Buxbaum JD; Ellegood J; Lerch JP; Wöhr M; Silverman JL
    Autism Res; 2018 Apr; 11(4):587-601. PubMed ID: 29377611
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the
    Drapeau E; Riad M; Kajiwara Y; Buxbaum JD
    eNeuro; 2018; 5(3):. PubMed ID: 30302388
    [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. 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]  

  • 12. Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism.
    Breen MS; Browne A; Hoffman GE; Stathopoulos S; Brennand K; Buxbaum JD; Drapeau E
    Mol Autism; 2020 Jun; 11(1):53. PubMed ID: 32560742
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
    Gergoudis K; Weinberg A; Templin J; Farmer C; Durkin A; Weissman J; Siper P; Foss-Feig J; Del Pilar Trelles M; Bernstein JA; Buxbaum JD; Berry-Kravis E; Powell CM; Sahin M; Soorya L; Thurm A; Kolevzon A;
    Autism Res; 2020 Aug; 13(8):1383-1396. PubMed ID: 32406614
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Gait Abnormalities in Children with Phelan-McDermid Syndrome.
    Frank Y; Levy T; Lozano R; Friedman K; Underwood S; Kostic A; Walker H; Kolevzon A
    J Child Neurol; 2023 Dec; 38(13-14):665-671. PubMed ID: 37849292
    [No Abstract]   [Full Text] [Related]  

  • 16. Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.
    Costales JL; Kolevzon A
    Neurotherapeutics; 2015 Jul; 12(3):620-30. PubMed ID: 25894671
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. Characterisation of the clinical phenotype in Phelan-McDermid syndrome.
    Burdeus-Olavarrieta M; San José-Cáceres A; García-Alcón A; González-Peñas J; Hernández-Jusdado P; Parellada-Redondo M
    J Neurodev Disord; 2021 Jul; 13(1):26. PubMed ID: 34246244
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
    J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 33.