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Journal Abstract Search

487 related items for PubMed ID: 23920044

  • 1. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
    Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C.
    Mol Genet Metab; 2013; 110(1-2):90-7. PubMed ID: 23920044
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  • 3. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
    Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N.
    J Med Genet; 2014 Sep; 51(9):605-13. PubMed ID: 25062845
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  • 6. Overexpression of the LSAMP and TUSC7 genes in acute myeloid leukemia following microdeletion/duplication of chromosome 3.
    Coccaro N, Zagaria A, Tota G, Anelli L, Orsini P, Casieri P, Cellamare A, Minervini A, Impera L, Minervini CF, Brunetti C, Mestice A, Carluccio P, Cumbo C, Specchia G, Albano F.
    Cancer Genet; 2015 Oct; 208(10):517-22. PubMed ID: 26345353
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  • 9. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.
    Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.
    Gene; 2012 Jan 15; 492(1):319-24. PubMed ID: 22037486
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  • 10. Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
    Huynh MT, Gérard M, Ranguin K, Pichon O, Ghesh L, Alfallaj K, Joubert M, Bézieau S, Bénéteau C.
    Neurogenetics; 2021 Jul 15; 22(3):195-206. PubMed ID: 34132911
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  • 11. Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
    Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA.
    Hum Mutat; 2013 Oct 15; 34(10):1415-23. PubMed ID: 23878096
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  • 14. Clinical and molecular characterization of a patient with 15q21.2q22.2 deletion syndrome.
    Velázquez-Wong AC, Ruiz Esparza-Garrido R, Velázquez-Flores MÁ, Huicochea-Montiel JC, Cárdenas-Conejo A, Miguez-Muñoz CP, Araujo-Solís MA, Salamanca-Gómez F, Arenas-Aranda DJ.
    Cytogenet Genome Res; 2014 Oct 15; 144(3):183-9. PubMed ID: 25661042
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  • 15. 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
    Dória S, Alves D, Pinho MJ, Pinto J, Leão M.
    BMC Med Genomics; 2020 Jan 03; 13(1):2. PubMed ID: 31900140
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  • 16. Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.
    Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P.
    Eur J Med Genet; 2014 Oct 03; 57(10):552-7. PubMed ID: 25106685
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  • 17. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.
    López-Expósito I, Ballesta-Martinez MJ, Bafalliu JA, Vera-Carbonell A, Domingo-Jiménez R, López-González V, Fernández A, Guillén-Navarro E.
    Genomics; 2014 Apr 03; 103(4):288-91. PubMed ID: 24607569
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  • 19. Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
    Piccione M, Piro E, Serraino F, Cavani S, Ciccone R, Malacarne M, Pierluigi M, Vitaloni M, Zuffardi O, Corsello G.
    Eur J Med Genet; 2012 Apr 03; 55(4):238-44. PubMed ID: 22406401
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  • 20. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.
    Eur J Med Genet; 2015 Mar 03; 58(3):140-7. PubMed ID: 25596525
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