These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 29896732)

  • 1. [Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].
    Luo J; Fang D; Qiu W; Xiao B; Fan Y; Ye J; Han L; Zhang H; Yu Y; Liang L; Gu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):361-365. PubMed ID: 29896732
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
    Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
    Yin R; Wack M; Hassen-Khodja C; McDuffie MT; Bliss G; Horn EJ; Kothari C; McLarney B; Davis R; Hanson K; O'Boyle M; Betancur C; Avillach P
    Mol Autism; 2024 Sep; 15(1):40. PubMed ID: 39350236
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder.
    Chen CH; Chen HI; Liao HM; Chen YJ; Fang JS; Lee KF; Gau SS
    Psychiatr Genet; 2017 Feb; 27(1):23-33. PubMed ID: 27846046
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].
    Yan L; Zhang Y; Tian L; Liu Y; He Y; Han C; Zhuang D; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Sep; 41(9):1059-1065. PubMed ID: 39217483
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. [Genetic study of a child with developmental delay and mental retardation].
    Zhang J; Zhang J; Yang Y; Wang S; Yao F; Zhang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):867-870. PubMed ID: 32761597
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability.
    Gong X; Jiang YW; Zhang X; An Y; Zhang J; Wu Y; Wang J; Sun Y; Liu Y; Gao X; Shen Y; Wu X; Qiu Z; Jin L; Wu BL; Wang H
    PLoS One; 2012; 7(4):e34739. PubMed ID: 22509352
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. [Clinical and genetic study of a child with mental retardation and multiple congenital anomalies and a 16p13.11 microdeletion].
    Wang H; Xiao B; Ye H; Hu Q; Qiu W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):485-9. PubMed ID: 27455003
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genetic analysis of two children with developmental delay and intellectual disability].
    Wang F; Qi N; Gao Y; Wu D; Zhang M; Zhang Q; Yang K; Peng H; Lei X; Liao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):876-880. PubMed ID: 37368394
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
    Delahaye A; Toutain A; Aboura A; Dupont C; Tabet AC; Benzacken B; Elion J; Verloes A; Pipiras E; Drunat S
    Eur J Med Genet; 2009; 52(5):328-32. PubMed ID: 19454329
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion 22q13.3 syndrome.
    Phelan MC
    Orphanet J Rare Dis; 2008 May; 3():14. PubMed ID: 18505557
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.