Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Bianca Pereira Favilla"'
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:
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:
Bianca Pereira Favilla, Bruna Burssed, Érika Mitie Yamashiro Coelho, Ana Beatriz Alvarez Perez, Maria de Fátima de Faria Soares, Vera Ayres Meloni, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Publikováno v:
Cytogenetic and Genome Research. 162:46-54
Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a68dcba8d0489a32ecf02b9b47110c3d
https://doi.org/10.1159/000522034
https://doi.org/10.1159/000522034
Autor:
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, Vera Ayres Meloni, Eny Maria Goloni-Bertollo, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Publikováno v:
Chromosome Research. 31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2f097a12d13522d9f929cc92af386d7
https://doi.org/10.1007/s10577-023-09720-0
https://doi.org/10.1007/s10577-023-09720-0
Autor:
Bianca Pereira Favilla, Fernanda Teixeira da Silva Bellucco, Maria Isabel Melaragno, Eduardo Perrone
Publikováno v:
Cytogenetic and Genome Research. 160:589-596
Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c499ee57c4b936276db7b0bf3bc95f61
https://doi.org/10.1159/000511235
https://doi.org/10.1159/000511235
Publikováno v:
Human Genome Structure, Function and Clinical Considerations ISBN: 9783030731502
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebb3f7f46e87e372be742f27b390e915
https://doi.org/10.1007/978-3-030-73151-9_2
https://doi.org/10.1007/978-3-030-73151-9_2
