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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 Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N. Rasmussen MB, et al. Among authors: venancio m. J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062845
12q21.2q22 deletion: a new patient.
Oliveira R, Pereira C, Melo JB, Mesquita S, Venâncio M, Carreira IM, Saraiva J. Oliveira R, et al. Among authors: venancio m. Am J Med Genet A. 2015 Aug;167A(8):1877-83. doi: 10.1002/ajmg.a.37077. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25845712
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. Beleza-Meireles A, et al. Among authors: venancio m. Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20. Eur J Med Genet. 2015. PMID: 26206081
Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.
Carreira IM, Ferreira SI, Matoso E, Pires LM, Ferrão J, Jardim A, Mascarenhas A, Pinto M, Lavoura N, Pais C, Paiva P, Simões L, Caramelo F, Ramos L, Venâncio M, Ramos F, Beleza A, Sá J, Saraiva J, de Melo JB. Carreira IM, et al. Among authors: venancio m. Mol Cytogenet. 2015 Dec 30;8:103. doi: 10.1186/s13039-015-0202-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 26719768 Free PMC article.
Pachydysostosis of the fibula in a case of familial adenomatous polyposis.
Oliveira D, Maia S, Balacó I, Coelho P, Almeida S, Venâncio M, Saraiva J, Nishimura G, Sousa SB. Oliveira D, et al. Among authors: venancio m. Eur J Med Genet. 2024 Apr;68:104913. doi: 10.1016/j.ejmg.2024.104913. Epub 2024 Jan 28. Eur J Med Genet. 2024. PMID: 38286305 Free article.
45 results