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Journal Abstract Search

185 related items for PubMed ID: 32633079

  • 1. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
    Niclass T, Le Guyader G, Beneteau C, Joubert M, Pizzuti A, Giuffrida MG, Bernardini L, Gilbert-Dussardier B, Bilan F, Egloff M.
    Am J Med Genet A; 2020 Sep; 182(9):2133-2138. PubMed ID: 32633079
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  • 3. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
    Shimojima K, Okamoto N, Yamamoto T.
    Congenit Anom (Kyoto); 2018 Jan; 58(1):36-38. PubMed ID: 28378413
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  • 4. 12q21.2q22 deletion: a new patient.
    Oliveira R, Pereira C, Melo JB, Mesquita S, Venâncio M, Carreira IM, Saraiva J.
    Am J Med Genet A; 2015 Aug; 167A(8):1877-83. PubMed ID: 25845712
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  • 6. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.
    Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K.
    Am J Med Genet A; 2019 Apr; 179(4):659-662. PubMed ID: 30768759
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  • 8. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
    Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ.
    Am J Med Genet A; 2014 Mar; 164A(3):796-800. PubMed ID: 24375972
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  • 9. Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
    Rojnueangnit K, Charalsawadi C, Thammachote W, Pradabmuksiri A, Tim-Aroon T, Novelli A, Loddo S, Briuglia S, Concetta CM, Wattanasirichaigoon D, Jinawath N.
    Mol Genet Genomic Med; 2019 Sep; 7(9):e896. PubMed ID: 31390163
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  • 10. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
    Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L.
    Genes (Basel); 2022 Apr 27; 13(5):. PubMed ID: 35627165
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  • 11. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.
    Eur J Med Genet; 2009 Apr 27; 52(5):358-62. PubMed ID: 19576304
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  • 12. A New 12q21 Deletion Syndrome: A Case Report and Literature Review.
    Di Nora A, De Costa G, Di Mari A, Montemagno M, Pavone V, Pavone P.
    Glob Med Genet; 2022 Sep 27; 9(3):214-218. PubMed ID: 35873668
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  • 16. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
    Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.
    Am J Med Genet A; 2005 Apr 01; 134A(1):3-11. PubMed ID: 15704124
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  • 20. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.
    Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M.
    Am J Med Genet; 2000 Jul 31; 93(3):219-22. PubMed ID: 10925386
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