M
Maria Isabel Melaragno
Researcher at Federal University of São Paulo
Publications - 139
Citations - 1648
Maria Isabel Melaragno is an academic researcher from Federal University of São Paulo. The author has contributed to research in topics: Gene & Trisomy. The author has an hindex of 19, co-authored 127 publications receiving 1379 citations. Previous affiliations of Maria Isabel Melaragno include Osaka University.
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Journal ArticleDOI
Homozygous and compound heterozygous mutations at the Werner syndrome locus.
Junko Oshima,Chang En Yu,Charles Piussan,Georg Klein,Jörg Jabkowski,Sevim Balci,Tetsuro Miki,Jun Nakura,Toshio Ogihara,James Ells,Marília de Arruda Cardoso Smith,Maria Isabel Melaragno,Marco Fraccaro,Susi Scappaticci,John Matthews,Samir Ouais,Amy A. Jarzebowicz,Gerard D. Schellenberg,George M. Martin +18 more
TL;DR: Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described, which include three compound heterozygotes (one Japanese and two Caucasian).
Journal ArticleDOI
Mechanisms of ring chromosome formation, ring instability and clinical consequences
Roberta Santos Guilherme,Vera Ayres Meloni,Chong Ae Kim,Renata Pellegrino,Sylvia Satomi Takeno,Nancy B. Spinner,Laura K. Conlin,Denise Maria Christofolini,Leslie Domenici Kulikowski,Maria Isabel Melaragno +9 more
TL;DR: The clinical phenotype of patients with ring chromosomes may be related with different factors, including gene haploinsufficiency, gene duplications and ring instability, as observed in patients with complete r(14) and r(22).
Journal ArticleDOI
Homozygosity mapping of the Werner syndrome locus (WRN)
Jun Nakura,E.M. Wijsman,Tetsuro Miki,Kouzin Kamino,Chang-En Yu,Junko Oshima,Ken Ichiro Fukuchi,James L. Weber,Charles Piussan,Maria Isabel Melaragno,Charles J. Epstein,S. Scappaticci,Marco Fraccaro,T. Matsumura,Shunichi Murano,Sho Yoshida,Yoshisada Fujiwara,Toshiaki Saida,Toshio Ogihara,George M. Martin,Gerard D. Schellenberg +20 more
TL;DR: The combined evidence from 2-point analysis, multipoint analysis, and analysis of regions of homozygosity in subjects from inbred pedigrees indicates that a single locus is responsible for WS in both Japanese and non-Japanese (mostly Caucasian) families.
Journal ArticleDOI
Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma.
Bianca Bianco,Monica V. N. Lipay,Maria Isabel Melaragno,Alexis Dourado Guedes,Ieda Therezinha do Nascimento Verreschi +4 more
TL;DR: A systematic search for hidden Y chromosome mosaicism in patients with TS and 45,X karyotype is justified by the possibility of developing gonadoblastoma.
Journal ArticleDOI
Ring chromosome instability evaluation in six patients with autosomal rings.
C P Sodré,Roberta Santos Guilherme,Vera Ayres Meloni,Decio Brunoni,Yara Juliano,Joyce Anderson Duffles Andrade,Sintia Iole Belangero,Denise Maria Christofolini,Leslie Domenici Kulikowski,Maria Isabel Melaragno +9 more
TL;DR: It is concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.