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Journal Abstract Search

164 related items for PubMed ID: 20832509

  • 1. 1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.
    Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW.
    Eur J Med Genet; 2010; 53(6):415-8. PubMed ID: 20832509
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  • 3. 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
    Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S.
    Eur J Med Genet; 2009; 52(2-3):128-30. PubMed ID: 19298871
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  • 5. 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.
    Li F, Lisi EC, Wohler ES, Hamosh A, Batista DA.
    Eur J Med Genet; 2009; 52(5):349-52. PubMed ID: 19460468
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  • 7. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
    Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A.
    Eur J Med Genet; 2011; 54(2):177-80. PubMed ID: 21167329
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  • 11. Recurrent 16p11.2 microdeletions in autism.
    Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Dobyns WB, Christian SL.
    Hum Mol Genet; 2008 Feb 15; 17(4):628-38. PubMed ID: 18156158
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  • 12. A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
    Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E.
    Eur J Med Genet; 2010 Feb 15; 53(4):221-4. PubMed ID: 20382277
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  • 17. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
    Shimojima K, Páez MT, Kurosawa K, Yamamoto T.
    Brain Dev; 2009 Sep 15; 31(8):629-33. PubMed ID: 18835671
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  • 18. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
    Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.
    J Med Genet; 2010 Jun 15; 47(6):377-84. PubMed ID: 20522426
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  • 19. 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.
    Città S, Buono S, Greco D, Barone C, Alfei E, Bulgheroni S, Usilla A, Pantaleoni C, Romano C.
    Am J Med Genet A; 2013 Dec 15; 161A(12):3018-22. PubMed ID: 24214349
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