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Journal Abstract Search

280 related items for PubMed ID: 17304549

  • 1.
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  • 2. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
    Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G.
    Am J Med Genet A; 2011 Feb; 155A(2):424-9. PubMed ID: 21271666
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  • 4. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
    Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW.
    Eur J Hum Genet; 2009 May; 17(5):573-81. PubMed ID: 19034313
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  • 5. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
    Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M.
    Am J Med Genet A; 2006 Mar 01; 140(5):496-502. PubMed ID: 16470790
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  • 6. Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.
    Erdel M, Duba HC, Verdorfer I, Lingenhel A, Geiger R, Gutenberger KH, Ludescher E, Utermann B, Utermann G.
    Hum Genet; 1997 May 01; 99(5):596-601. PubMed ID: 9150724
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  • 7. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
    van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF.
    Am J Med Genet A; 2005 May 15; 135(1):91-5. PubMed ID: 15822126
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  • 8. An interstitial deletion of chromosome 7 at band q21: a case report and review.
    Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM.
    Am J Med Genet A; 2005 Apr 01; 134A(1):12-23. PubMed ID: 15732063
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  • 10. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).
    Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW.
    Am J Med Genet A; 2008 Aug 01; 146A(15):1986-93. PubMed ID: 18627051
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  • 11. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.
    Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB.
    Am J Med Genet A; 2006 Mar 15; 140(6):618-23. PubMed ID: 16470689
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  • 12. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
    Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR.
    Am J Med Genet A; 2007 Jun 15; 143A(12):1348-53. PubMed ID: 17506097
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  • 14. A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.
    Andrieux J, Cuvellier JC, Duban-Bedu B, Joriot-Chekaf S, Dieux-Coeslier A, Manouvrier-Hanu S, Delobel B, Vallee L.
    Eur J Med Genet; 2008 Jun 15; 51(1):87-91. PubMed ID: 18053786
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  • 16. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
    Tzschach A, Krause-Plonka I, Menzel C, Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V.
    Am J Med Genet A; 2006 May 15; 140(10):1108-10. PubMed ID: 16619204
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  • 17. Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.
    Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A.
    Am J Med Genet A; 2005 Jan 15; 132A(2):175-80. PubMed ID: 15578619
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  • 18. Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
    Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB.
    Am J Med Genet A; 2011 Jun 15; 155A(6):1476-82. PubMed ID: 21567918
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