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Ade Nubia Xavier Pacanaro
Researcher at Federal University of São Paulo
Publications - 3
Citations - 21
Ade Nubia Xavier Pacanaro is an academic researcher from Federal University of São Paulo. The author has contributed to research in topics: Marker chromosome & Chromosome 15. The author has an hindex of 3, co-authored 3 publications receiving 20 citations.
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A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.
Ade Nubia Xavier Pacanaro,Denise Maria Christofolini,Leslie Domenici Kulikowski,Leslie Domenici Kulikowski,Sintia Iole Belangero,Fernanda Teixeira da Silva Bellucco,Monica C. Varela,Célia Priszkulnik Koiffmann,Maisa Yoshimoto,Jeremy A. Squire,Adriana V. Schiavon,Benjamin Heck,Maria Isabel Melaragno +12 more
TL;DR: The largest de novo monosatellited 15q marker chromosome ever published was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum, presenting detailed cytogenetic and clinical data.
Journal ArticleDOI
Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.
Sintia Iole Belangero,Ade Nubia Xavier Pacanaro,Fernanda Teixeira da Silva Bellucco,Denise Maria Christofolini,Leslie Domenici Kulikowski,Roberta Santos Guilherme,Adriana Bortolai,A.R.N. Dutra,Flavia Balbo Piazzon,Mirlene C. S. P. Cernach,Maria Isabel Melaragno +10 more
TL;DR: Clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling.
Journal ArticleDOI
Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation.
Leslie Domenici Kulikowski,Maisa Yoshimoto,Fernanda Teixeira da Silva Bellucco,Sintia Iole Belangero,Denise Maria Christofolini,Ade Nubia Xavier Pacanaro,Adriana Bortolai,Marília de Arruda Cardoso Smith,Jeremy A. Squire,Maria Isabel Melaragno +9 more
TL;DR: It is suggested that neo-telomere formation by chromosome healing was involved in the repair and stabilization of this terminal deletion in a girl with moderate mental retardation who had a cytogenetically visible terminal 18q deletion.