Now showing items 1-9 of 9

    • Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement 

      Christofolini, Denise Maria; Meloni, Vera Ayres [UNIFESP]; Paula Ramos, Marco Antonio de [UNIFESP]; Oliveira, Mariana Moyses [UNIFESP]; Mello, Claudia Berlim de [UNIFESP]; Pellegrino, Renata [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Melaragno, Maria Isabel [UNIFESP] (Wiley-Blackwell, 2012-10-01)
      The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in structural rearrangement. However, interstitial duplications involving one of the chromosome 15 homologues are less frequent, ...
    • Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion 

      Guilherme, Roberta Santos [UNIFESP]; Soares, Karina Cunha; Simioni, Milena; Vieira, Tarsis Paiva; Gil-da-Silva-Lopes, Vera Lucia; Kim, Chong Ae; Brunoni, Decio [UNIFESP]; Spinner, Nancy Bettina; Conlin, Laura Kathleen; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Steiner, Carlos Eduardo; Melaragno, Maria Isabel [UNIFESP] (Wiley-Blackwell, 2014-07-01)
      We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex ...
    • Deletion 22q11.2: Report of a complex meiotic mechanism of origin 

      Belangero, Sintia Iole [UNIFESP]; Hacker, April M.; Bellucco, Fernanda T. S.; Kulikowski, Leslie Domenici; Christofolini, Denise Maria; Cernach, Mirlene C.; Melaragno, Maria Isabel; Emanuel, Beverly S. (Wiley-Blackwell, 2007-08-01)
      We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markets flanking the deleted region, demonstrated a complex mechanism of origin of ...
    • DRD1 rs4532 polymorphism: A potential pharmacogenomic marker for treatment response to antipsychotic drugs 

      Ota, Vanessa Kiyomi [UNIFESP]; Spindola, Leticia Nery [UNIFESP]; Gadelha, Ary [UNIFESP]; Santos Filho, Airton Ferreira dos [UNIFESP]; Santoro, Marcos Leite [UNIFESP]; Christofolini, Denise Maria; Bellucco, Fernanda Teixeira [UNIFESP]; Ribeiro-dos-Santos, Andrea Kely; Santos, Sidney; Mari, Jair de Jesus [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Bressan, Rodrigo Affonseca [UNIFESP]; Cardoso Smith, Marilia de Arruda [UNIFESP]; Belangero, Sintia Iole [UNIFESP] (Elsevier B.V., 2012-12-01)
      We investigated the association of dopamine receptor D1 gene (DRD1) rs4532 polymorphism with antipsychotic treatment response in schizophrenia. We have analyzed 124 patients with schizophrenia, consisting of 59 treatment ...
    • OC-125 immunostaining in endometriotic lesion samples 

      Barbosa, Caio Parente; Bentes de Souza, Angela Mara; Bianco, Bianca; Christofolini, Denise Maria; Mafra, Fernanda Abani; Lima, Geraldo Rodrigues de [UNIFESP] (Springer, 2010-01-01)
      To determine the presence of OC-125 staining in endometriotic lesions and to verify whether there is an association with endometriosis stage.Thirteen patients from the Family Planning programs (group I) and 53 patients ...
    • Polymorphisms of Estrogen Receptors Alpha and Beta in Idiopathic, Infertile Brazilian Men: A Case-Control Study 

      Bianco, Bianca; Peluso, Carla; Gava, Marcello Machado; Ghirelli-Filho, Milton; Nunes Lipay, Monica Vannucci [UNIFESP]; Lipay, Marco Aurelio; Christofolini, Denise Maria; Barbosa, Caio Parente (Wiley-Blackwell, 2011-09-01)
      Estrogen plays an important role in the human reproductive system and its action is mediatedmainly by two specific receptors: alpha(ER alpha) and beta(ER beta). There are polymorphic variants in both ER genes, and studies ...
    • PRODH Polymorphisms, Cortical Volumes and Thickness in Schizophrenia 

      Ota, Vanessa Kiyomi Arashiro [UNIFESP]; Bellucco, Fernanda Teixeira da Silva [UNIFESP]; Gadelha, Ary [UNIFESP]; Santoro, Marcos Leite [UNIFESP]; Noto, Cristiano [UNIFESP]; Christofolini, Denise Maria; Assunção, Idaiane Batista de [UNIFESP]; Yamada, Karen M. [UNIFESP]; Ribeiro-dos-Santos, Andrea K.; Santos, Sidney; Mari, Jair de Jesus [UNIFESP]; Smith, Marilia de Arruda Cardoso [UNIFESP]; Melaragno, Maria I. [UNIFESP]; Bressan, Rodrigo Affonseca [UNIFESP]; Sato, Joao R. [UNIFESP]; Jackowski, Andrea Parolin [UNIFESP]; Belangero, Sintia Iole [UNIFESP] (Public Library Science, 2014-02-03)
      Schizophrenia is a neurodevelopmental disorder with high heritability. Several lines of evidence indicate that the PRODH gene may be related to the disorder. Therefore, our study investigates the effects of 12 polymorphisms ...
    • A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosome 

      Pacanaro, Ade Nubia Xavier [UNIFESP]; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Nogueira Belangero, Sintia Iole; Silva Bellucco, Fernanda Teixeira da; Varela, Monica C.; Koiffmann, Celia P.; Yoshimoto, Maisa; Squire, Jeremy A.; Schiavon, Adriana V.; Heck, Benjamin; Melaragno, Maria Isabel [UNIFESP] (Wiley-Blackwell, 2010-03-01)
      Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are ...
    • Ring chromosome 10: report on two patients and review of the literature 

      Guilherme, Roberta Santos [UNIFESP]; Kim, Chong Ae; Alonso, Luis Garcia [UNIFESP]; Honjo, Rachel S.; Meloni, Vera Ayres [UNIFESP]; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel [UNIFESP] (Springer, 2013-02-01)
      Ring chromosome 10-r(10)-is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome ...