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Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations.
Epigenetics Chromatin. 2023 May 19;16(1):19. doi: 10.1186/s13072-023-00493-8.
Epigenetics Chromatin. 2023.
PMID: 37202802
Free PMC article.
Partial 5p Gain and 15q Loss in Three Patients from a Family with a t(5;15)(p13.3;q26.3) Translocation.
Bellucco FT, Favilla BP, Perrone E, Melaragno MI.
Bellucco FT, et al. Among authors: favilla bp.
Cytogenet Genome Res. 2020 Dec 14:1-8. doi: 10.1159/000511235. Online ahead of print.
Cytogenet Genome Res. 2020.
PMID: 33316810
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Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects.
Favilla BP, Meloni VA, Perez AB, Moretti-Ferreira D, de Souza DH, Bellucco FT, Melaragno MI.
Favilla BP, et al.
Am J Med Genet A. 2021 Aug;185(8):2295-2305. doi: 10.1002/ajmg.a.62228. Epub 2021 Apr 29.
Am J Med Genet A. 2021.
PMID: 33913603
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Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome.
Favilla BP, Burssed B, Yamashiro Coelho ÉM, Perez ABA, de Faria Soares MF, Meloni VA, Bellucco FT, Melaragno MI.
Favilla BP, et al.
Cytogenet Genome Res. 2022;162(1-2):46-54. doi: 10.1159/000522034. Epub 2022 Mar 15.
Cytogenet Genome Res. 2022.
PMID: 35290978
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Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.
Olivati C, Favilla BP, Freitas EL, Santos B, Melaragno MI, Meloni VA, Piazzon F.
Olivati C, et al. Among authors: favilla bp.
Mol Genet Metab Rep. 2022 May 7;31:100879. doi: 10.1016/j.ymgmr.2022.100879. eCollection 2022 Jun.
Mol Genet Metab Rep. 2022.
PMID: 35782622
Free PMC article.
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Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15.
Burssed B, Zamariolli M, Favilla BP, Meloni VA, Goloni-Bertollo EM, Bellucco FT, Melaragno MI.
Burssed B, et al. Among authors: favilla bp.
Chromosome Res. 2023 Feb 24;31(1):10. doi: 10.1007/s10577-023-09720-0.
Chromosome Res. 2023.
PMID: 36826604
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X-Chromosome Dependent Differences in the Neuronal Molecular Signatures and Their Implications in Sleep Patterns.
Moysés-Oliveira M, Favilla BP, Melaragno MI PhD, Tufik S.
Moysés-Oliveira M, et al. Among authors: favilla bp.
Sleep Med Clin. 2023 Dec;18(4):521-531. doi: 10.1016/j.jsmc.2023.06.014. Epub 2023 Aug 12.
Sleep Med Clin. 2023.
PMID: 38501524
Review.
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