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Journal Abstract Search

199 related items for PubMed ID: 23894059

  • 1. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.
    Torti EE, Braddock SR, Bernreuter K, Batanian JR.
    Am J Med Genet A; 2013 Aug; 161A(8):1992-8. PubMed ID: 23894059
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  • 2. A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.
    Glaeser AB, Diniz BL, Santos AS, Guaraná BB, Muniz VF, Carlotto BS, Everling EM, Noguchi PY, Garcia AR, Miola J, Riegel M, Mergener R, Gazzola Zen PR, Machado Rosa RF.
    Eur J Med Genet; 2021 Nov; 64(11):104319. PubMed ID: 34474176
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  • 3. Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
    Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG.
    Am J Med Genet A; 2020 Nov; 182(11):2624-2631. PubMed ID: 32893956
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  • 4. Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.
    Colovati ME, Bragagnolo S, Guilherme RS, Dantas AG, Soares MF, Kim CA, Perez AB, Melaragno MI.
    Cytogenet Genome Res; 2015 Nov; 147(2-3):130-4. PubMed ID: 26919065
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  • 5. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
    Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.
    Eur J Med Genet; 2015 Sep; 58(9):455-65. PubMed ID: 26206081
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  • 8. Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.
    Quintero-Rivera F, Martinez-Agosto JA.
    Am J Med Genet A; 2013 Aug; 161A(8):1985-91. PubMed ID: 23794175
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  • 10. Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
    Spineli-Silva S, Monlleó IL, Félix TM, Gil-da-Silva-Lopes VL, Vieira TP.
    Cleft Palate Craniofac J; 2024 Sep; 61(9):1578-1585. PubMed ID: 37183441
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  • 11. 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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  • 15. De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.
    Vittas S, Efstathiou G, Tsakalidis C, Malamaki C, Antari V, Chatzitoliou E, Chatziioannidis I, Galli-Tsinopoulou A, Soubasi V.
    Cytogenet Genome Res; 2019 Feb; 158(1):32-37. PubMed ID: 30799418
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