BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

356 related articles for article (PubMed ID: 28576520)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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; 7(49):80327-80335. PubMed ID: 27741506
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
    Palumbo P; Accadia M; Leone MP; Palladino T; Stallone R; Carella M; Palumbo O
    Am J Med Genet A; 2018 Feb; 176(2):391-398. PubMed ID: 29193617
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
    Aldinger KA; Kogan J; Kimonis V; Fernandez B; Horn D; Klopocki E; Chung B; Toutain A; Weksberg R; Millen KJ; Barkovich AJ; Dobyns WB
    Am J Med Genet A; 2013 Jan; 161A(1):131-6. PubMed ID: 23225497
    [TBL] [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. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.
    Sarasua SM; Dwivedi A; Boccuto L; Chen CF; Sharp JL; Rollins JD; Collins JS; Rogers RC; Phelan K; DuPont BR
    Genet Med; 2014 Apr; 16(4):318-28. PubMed ID: 24136618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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. 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]  

  • 18. 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]  

  • 19. [The Phelan-McDermid syndrome (22q13 microdeletion) - case report].
    Slezak R; Laczmańska I
    Med Wieku Rozwoj; 2011; 15(1):96-100. PubMed ID: 21786519
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 18.