BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

632 related articles for article (PubMed ID: 27846046)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
    Moreira DP; Griesi-Oliveira K; Bossolani-Martins AL; Lourenço NC; Takahashi VN; da Rocha KM; Moreira ES; Vadasz E; Meira JG; Bertola D; O'Halloran E; Magalhães TR; Fett-Conte AC; Passos-Bueno MR
    PLoS One; 2014; 9(9):e107705. PubMed ID: 25255310
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
    Kurtas N; Arrigoni F; Errichiello E; Zucca C; Maghini C; D'Angelo MG; Beri S; Giorda R; Bertuzzo S; Delledonne M; Xumerle L; Rossato M; Zuffardi O; Bonaglia MC
    J Med Genet; 2018 Apr; 55(4):269-277. PubMed ID: 29378768
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
    Cappuccio G; Vitiello F; Casertano A; Fontana P; Genesio R; Bruzzese D; Ginocchio VM; Mormile A; Nitsch L; Andria G; Melis D
    Ital J Pediatr; 2016 Apr; 42():39. PubMed ID: 27072107
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. [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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
    Reis VN; Kitajima JP; Tahira AC; Feio-Dos-Santos AC; Fock RA; Lisboa BC; Simões SN; Krepischi AC; Rosenberg C; Lourenço NC; Passos-Bueno MR; Brentani H
    PLoS One; 2017; 12(1):e0170386. PubMed ID: 28118382
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
    Bonaglia MC; Giorda R; Beri S; De Agostini C; Novara F; Fichera M; Grillo L; Galesi O; Vetro A; Ciccone R; Bonati MT; Giglio S; Guerrini R; Osimani S; Marelli S; Zucca C; Grasso R; Borgatti R; Mani E; Motta C; Molteni M; Romano C; Greco D; Reitano S; Baroncini A; Lapi E; Cecconi A; Arrigo G; Patricelli MG; Pantaleoni C; D'Arrigo S; Riva D; Sciacca F; Dalla Bernardina B; Zoccante L; Darra F; Termine C; Maserati E; Bigoni S; Priolo E; Bottani A; Gimelli S; Bena F; Brusco A; di Gregorio E; Bagnasco I; Giussani U; Nitsch L; Politi P; Martinez-Frias ML; Martínez-Fernández ML; Martínez Guardia N; Bremer A; Anderlid BM; Zuffardi O
    PLoS Genet; 2011 Jul; 7(7):e1002173. PubMed ID: 21779178
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 32.