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Journal Abstract Search


125 related items for PubMed ID: 23183317

  • 1. Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.
    Kuipers BC, Vulto-van Silfhout AT, Marcelis C, Pfundt R, de Leeuw N, de Vries BB.
    Clin Dysmorphol; 2013 Jan; 22(1):18-21. PubMed ID: 23183317
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  • 3. Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
    Tassano E, Uccella S, Severino M, Giacomini T, Nardi F, Gimelli G, Tavella E, Ronchetto P, Malacarne M, Coviello D.
    J Genet; 2021 Jan; 100():. PubMed ID: 33707360
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  • 5. Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.
    Linhares ND, Svartman M, Rodrigues TC, Rosenberg C, Valadares ER.
    Eur J Med Genet; 2015 May; 58(5):310-8. PubMed ID: 25817395
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  • 12. A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.
    Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR.
    Eur J Med Genet; 2012 Oct; 55(10):564-7. PubMed ID: 22750323
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  • 13. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.
    Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V.
    Gene; 2012 Jan 15; 492(1):315-8. PubMed ID: 22062632
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  • 15. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
    Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E.
    Orphanet J Rare Dis; 2013 Jan 07; 8():3. PubMed ID: 23294540
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  • 18. Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
    Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P.
    Eur J Med Genet; 2014 Apr 07; 57(5):200-6. PubMed ID: 24462886
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  • 20. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
    Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.
    Birth Defects Res A Clin Mol Teratol; 2010 Feb 07; 88(2):132-5. PubMed ID: 19813260
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