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Journal Abstract Search

263 related items for PubMed ID: 25858326

  • 1. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
    Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, Martínez F.
    Am J Med Genet A; 2015 Jul; 167(7):1614-20. PubMed ID: 25858326
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  • 2. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
    Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S, SOGRI ConsortiumInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario LaPaz-UAM, Paseo de La Castellana, Madrid, Spain.CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fernández Almagro, Madrid, Spain., Cigudosa JC, Pérez-Jurado LA, Lapunzina P.
    Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
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  • 4. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS.
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
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  • 5. Pure duplication of 19p13.3.
    Ishikawa A, Enomoto K, Tominaga M, Saito T, Nagai J, Furuya N, Ueno K, Ueda H, Masuno M, Kurosawa K.
    Am J Med Genet A; 2013 Sep; 161A(9):2300-4. PubMed ID: 23897601
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  • 8. A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.
    Palumbo O, Palumbo P, Di Muro E, Cinque L, Petracca A, Carella M, Castori M.
    Genes (Basel); 2020 Jun 26; 11(6):. PubMed ID: 32604767
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  • 9. Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
    Fernández-Jaén A, Castellanos Mdel C, Fernández-Perrone AL, Fernández-Mayoralas DM, de la Vega AG, Calleja-Pérez B, Fernández EC, Albert J, Hombre MC.
    Am J Med Genet A; 2014 Aug 26; 164A(8):2043-7. PubMed ID: 24838842
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  • 10. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
    Chen CP, Lin SP, Chern SR, Wu PS, Su JW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2014 Mar 26; 53(1):74-8. PubMed ID: 24767651
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  • 11. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E.
    Gene; 2012 Sep 15; 506(2):360-8. PubMed ID: 22766398
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  • 13. Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.
    Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L.
    Gene; 2013 Dec 01; 531(2):502-5. PubMed ID: 24035902
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  • 15. Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.
    Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM.
    Gene; 2013 Jul 01; 523(1):92-8. PubMed ID: 23566840
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  • 16. Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
    Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB.
    Am J Med Genet A; 2011 Nov 01; 155A(11):2841-54. PubMed ID: 21964744
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  • 17. Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.
    Soysal Y, Vermeesch J, Davani NA, Şensoy N, Hekimler K, İmirzalıoğlu N.
    Genet Mol Res; 2011 Sep 21; 10(3):2148-54. PubMed ID: 21968682
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  • 19. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
    Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É.
    Am J Med Genet A; 2012 Apr 21; 158A(4):869-76. PubMed ID: 22407767
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