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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: ferreira si. 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
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: ferreira si. Mol Cytogenet. 2015 Dec 30;8:103. doi: 10.1186/s13039-015-0202-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 26719768 Free PMC article.
Tremor is a major feature of 9p13 deletion syndrome.
Ferreira SI, Cinnirella G, Ramos L, Suppa A, Pires LM, Nardone AM, Camerota L, Lanciotti S, Galasso C, De Maio F, de Melo JB, Carreira IM, Brancati F. Ferreira SI, et al. Am J Med Genet A. 2020 Nov;182(11):2694-2698. doi: 10.1002/ajmg.a.61807. Epub 2020 Sep 8. Am J Med Genet A. 2020. PMID: 32896075
Small supernumerary marker chromosomes derived from human chromosome 11.
Liehr T, Ziegler M, Person L, Kankel S, Padutsch N, Weise A, Weimer JP, Williams H, Ferreira S, Melo JB, Carreira IM. Liehr T, et al. Front Genet. 2023 Dec 15;14:1293652. doi: 10.3389/fgene.2023.1293652. eCollection 2023. Front Genet. 2023. PMID: 38174048 Free PMC article.
20 results