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Journal Abstract Search

389 related items for PubMed ID: 26099517

  • 1. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
    Chang J, Zhao L, Chen C, Peng Y, Xia Y, Tang G, Bai T, Zhang Y, Ma R, Guo R, Mei L, Liang D, Cao Q, Wu L.
    Gene; 2015 Sep 10; 569(1):46-50. PubMed ID: 26099517
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  • 2. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
    Tarsitano M, Ceglia C, Novelli A, Capalbo A, Lombardo B, Pastore L, Fioretti G, Vicari L, Pisanti MA, Friso P, Cavaliere ML.
    Gene; 2014 Feb 15; 536(1):213-6. PubMed ID: 24315824
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  • 3. Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
    Fischer M, Klopocki E.
    Cytogenet Genome Res; 2020 Feb 15; 160(11-12):659-663. PubMed ID: 33472199
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  • 4. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
    Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P.
    Eur J Med Genet; 2012 Nov 15; 55(11):650-5. PubMed ID: 22796526
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  • 8. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
    Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P, Mota-Vieira L.
    BMC Pediatr; 2015 Aug 22; 15():95. PubMed ID: 26297018
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  • 9. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
    Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F.
    Prenat Diagn; 2015 Jan 22; 35(1):35-43. PubMed ID: 25118001
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  • 10. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
    Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW.
    J Med Genet; 2012 Nov 22; 49(11):681-8. PubMed ID: 23042811
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  • 11. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
    Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.
    Am J Med Genet A; 2005 Aug 15; 137(1):47-51. PubMed ID: 16007629
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  • 18. Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.
    Molck MC, Vieira TP, Simioni M, Sgardioli IC, dos Santos AP, Xavier AC, Gil-da-Silva-Lopes VL.
    Am J Med Genet A; 2015 Jan 15; 167A(1):215-20. PubMed ID: 25358462
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