Zobrazeno 1 - 10
of 441
pro vyhledávání: '"Maria Isabel, Melaragno"'
Autor:
Anelisa Gollo Dantas, Beatriz Carvalho Nunes, Natália Nunes, Pedro Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)
Abstract Background The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with highly variable phenotypic manifestations, even though most patients present the typical 3 Mb microdeletion, usually affecting the same ~ 106 genes. One of
Externí odkaz:
https://doaj.org/article/05635cc8516341eb8457684996a94f86
Autor:
Adriana Di-Battista, Bianca Pereira Favilla, Malú Zamariolli, Natália Nunes, Alexandre Defelicibus, Lucia Armelin-Correa, Israel Tojal da Silva, Alexandre Reymond, Mariana Moyses-Oliveira, Maria Isabel Melaragno
Publikováno v:
Epigenetics & Chromatin, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Background Patients with balanced X-autosome translocations and premature ovarian insufficiency (POI) constitute an interesting paradigm to study the effect of chromosome repositioning. Their breakpoints are clustered within cytobands Xq13
Externí odkaz:
https://doaj.org/article/f60974011ecd4b0b988c1713c02a5366
Autor:
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Iole Belangero, Vera Lúcia Gil-Da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Publikováno v:
Genetics Research, Vol 2024 (2024)
22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22q11.2DS c
Externí odkaz:
https://doaj.org/article/3aec9cf7c8f64a16aa4b81645a566b72
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-15 (2022)
Abstract Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability. Most of these rearrangements arise from recombination, repai
Externí odkaz:
https://doaj.org/article/061c6f4a2b1848409d6a5ecaadefe687
Autor:
Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flavia Piazzon
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100879- (2022)
Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. This disease is an X-linked disorder tha
Externí odkaz:
https://doaj.org/article/2d8ce356c2b2446e9648067f9eaacfbe
Autor:
Luciane Simonetti, Lucas G. A. Ferreira, Angela Cristina Vidi, Janaina Sena de Souza, Ilda S. Kunii, Maria Isabel Melaragno, Claudia Berlim de Mello, Gianna Carvalheira, Magnus R. Dias da Silva
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Klinefelter syndrome (KS) displays a broad dysmorphological, endocrinological, and neuropsychological clinical spectrum. We hypothesized that the neurocognitive dysfunction present in KS relies on an imbalance in X-chromosome gene expression. Thus, t
Externí odkaz:
https://doaj.org/article/1e3a1c159dc34caab5ee074aede09c92
Autor:
Luísa da Costa Lopes, Dalva Lucia Rollemberg Poyares, Sergio Tufik, Sophia La Banca de Oliveira, Julia Ribeiro da Silva Vallim, Vanessa Kiyomi Ota, Maria Isabel Melaragno, Maurice Ohayon, Claudia Berlim de Mello
Publikováno v:
Sleep Medicine. 104:64-72
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d41f6b14bc6ab9a38bcfad805ea4e41
https://doi.org/10.1016/j.sleep.2023.02.017
https://doi.org/10.1016/j.sleep.2023.02.017
Autor:
Malú Zamariolli, Chiara Auwerx, Marie C. Sadler, Adriaan van der Graaf, Kaido Lepik, Tabea Schoeler, Mariana Moysés-Oliveira, Anelisa G. Dantas, Maria Isabel Melaragno, Zoltán Kutalik
Publikováno v:
The American Journal of Human Genetics. 110:300-313
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d86c55608cfd248e1caa37d6929e1a55
https://doi.org/10.1016/j.ajhg.2023.01.005
https://doi.org/10.1016/j.ajhg.2023.01.005
Autor:
Victória Cabral Silveira Monteiro de Godoy, Fernanda Teixeira Bellucco, Mileny Colovati, Hélio Rodrigues de Oliveira-Junior, Mariana Moysés-Oliveira, Maria Isabel Melaragno
Publikováno v:
Genetics and Molecular Biology, Vol 43, Iss 4 (2020)
Abstract Copy number variations (CNVs) constitute an important class of variation in the human genome and the interpretation of their pathogenicity considering different frequencies across populations is still a challenge for geneticists. Since the C
Externí odkaz:
https://doaj.org/article/105ffb7371964ac180d1a99ae649ee7b
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Malan syndrome is a recently introduced overgrowth disorder described in a limited number of individuals. Haploinsufficiency and also point mutations of NFIX gene have been proposed as its leading causative mechanism, however, due
Externí odkaz:
https://doaj.org/article/a0a29a93b3e24627b535d765e97af274