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Journal Abstract Search

144 related items for PubMed ID: 35873668

  • 1. 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; 9(3):214-218. PubMed ID: 35873668
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  • 2. 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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  • 6. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
    Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E.
    Mol Cytogenet; 2008 Nov 11; 1():23. PubMed ID: 19000322
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  • 7. 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 11; 167A(8):1877-83. PubMed ID: 25845712
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  • 8. Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.
    Parmeggiani G, Bigoni S, Buldrini B, Garani G, Clauser L, Galiè M, Ferlini A, Fini S.
    Mol Syndromol; 2017 Dec 11; 9(1):30-37. PubMed ID: 29456481
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  • 9. Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.
    Tassano E, Accogli A, Panigada S, Ronchetto P, Cuoco C, Gimelli G.
    Mol Cytogenet; 2014 Dec 11; 7():49. PubMed ID: 25076984
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  • 10. Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved.
    Di Nora A, Lena G, Giugno A, Di Mari A, Smilari P, Minardi C, Pavone P.
    Glob Med Genet; 2021 Sep 11; 8(3):123-128. PubMed ID: 34430965
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  • 12. Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.
    Silipigni R, Cattaneo E, Baccarin M, Fumagalli M, Bedeschi MF.
    Eur J Med Genet; 2016 Jan 11; 59(1):39-42. PubMed ID: 26700408
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  • 14. Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
    Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D.
    Eur J Med Genet; 2011 Jan 11; 54(1):55-9. PubMed ID: 20969981
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  • 15. Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
    Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D.
    Am J Med Genet A; 2012 Jun 11; 158A(6):1395-9. PubMed ID: 22585544
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  • 16. LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.
    Matsumoto A, Mizuno M, Hamada N, Nozaki Y, Jimbo EF, Momoi MY, Nagata K, Yamagata T.
    PLoS One; 2014 Jun 11; 9(3):e92695. PubMed ID: 24658322
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  • 17. A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.
    Lagou M, Papoulidis I, Orru S, Papadopoulos V, Daskalakis G, Kontodiou M, Anastasakis E, Petersen MB, Kitsos G, Thomaidis L, Manolakos E.
    Mol Cytogenet; 2014 Jun 11; 7(1):92. PubMed ID: 25506395
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