Now showing items 1-12 of 12

    • 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 ...
    • Cytogenetic instability of dental pulp stem cell lines 

      Duailibi, Monica Talarico [UNIFESP]; Kulikowski, Leslie Domenici; Duailibi, Silvio Eduardo [UNIFESP]; Nunes Lipay, Monica Vannucci [UNIFESP]; Melaragno, Maria Isabel; Ferreira, Lydia Masako [UNIFESP]; Vacanti, Joseph Phillip; Yelick, Pamela Crotty (Springer, 2012-02-01)
      Human adult stem cells (hASCs) offer a potentially renewable source of cell types that are easily isolated and rapidly expanded for use in regenerative medicine and cell therapies without the complicating ethical problems ...
    • Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience 

      Zanardo, Evelin Aline; Dutra, Roberta Lelis; Piazzon, Flavia Balbo; Dias, Alexandre Torchio; Novo-Filho, Gil Monteiro; Nascimento, Amom Mendes; Montenegro, Marilia Moreira; Damasceno, Jullian Gabriel; Rosa Madia, Fabricia Andreia; Moura Machado da Costa, Thais Virginia; Melaragno, Maria Isabel [UNIFESP]; Kim, Chong Ae; Kulikowski, Leslie Domenici (Hospital Clinicas, Univ Sao Paulo, 2017)
      OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an ...
    • Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype 

      Meloni, Vera de Freitas Ayres [UNIFESP]; Piazzon, Flavia Balbo; Soares, Maria de Fátima de Faria [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Christofolini, Denise Maria [UNIFESP]; Kulikowski, Leslie Domenici; Brunoni, Decio [UNIFESP]; Melaragno, Maria Isabel [UNIFESP] (Elsevier B.V., 2012-03-15)
      We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification ...
    • 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 ...
    • Duplication 9p and their implication to phenotype 

      Guilherme, Roberta Santos [UNIFESP]; Meloni, Vera Ayres [UNIFESP]; Perez, Ana Beatriz Alvarez [UNIFESP]; Pilla, Ana Luiza [UNIFESP]; Ramos, Marco Antonio Paula de [UNIFESP]; Dantas, Anelisa Gollo [UNIFESP]; Takero, Sylvia Satomi [UNIFESP]; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel [UNIFESP] (Biomed Central Ltd, 2014-12-20)
      Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete ...
    • Inactivation of AMMECR1 is associated with growth, bone, and heart alterations 

      Moyses-Oliveira, Mariana [UNIFESP]; Giannuzzi, Giuliana; Fish, Richard J.; Rosenfeld, Jill A.; Petit, Florence; Soares, Maria de Fatima [UNIFESP]; Kulikowski, Leslie Domenici; Di-Battista, Adriana [UNIFESP]; Zamariolli, Malu [UNIFESP]; Xia, Fan; Liehr, Thomas; Kosyakova, Nadezda; Carvalheira, Gianna [UNIFESP]; Parker, Michael; Seaby, Eleanor G.; Ennis, Sarah; Gilbert, Rodney D.; Hagelstrom, R. Tanner; Cremona, Maria L.; Li, Wenhui L.; Malhotra, Alka; Chandrasekhar, Anjana; Perry, Denise L.; Taft, Ryan J.; McCarrier, Julie; Basel, Donald G.; Andrieux, Joris; Stumpp, Taiza; Antunes, Fernanda [UNIFESP]; Pereira, Gustavo Jose [UNIFESP]; Neerman-Arbez, Marguerite; Meloni, Vera Ayres [UNIFESP]; Drummond-Borg, Margaret; Melaragno, Maria Isabel [UNIFESP]; Reymond, Alexandre (Wiley, 2018)
      We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome
    • Position effect modifying gene expression in a patient with ring chromosome 14 

      Guilherme, Roberta Santos [UNIFESP]; Moyses-Oliveira, Mariana [UNIFESP]; Dantas, Anelisa Gollo [UNIFESP]; Meloni, Vera Ayres [UNIFESP]; Colovati, Mileny Esbravatti [UNIFESP]; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel [UNIFESP] (Springer Heidelberg, 2016)
      The clinical phenotype of patients with ring chromosomes usually reflects the loss of genomic material during ring formation. However, phenotypic alterations can also be found in the presence of complete ring chromosomes, ...
    • 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 ...
    • Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region 

      Queiroz Soares, Diogo Cordeiro de; Dutra, Roberta Lelis; D'angioli Costa Quaio, Caio Robledo; Melaragno, Maria Isabel [UNIFESP]; Kulikowski, Leslie Domenici; Torres, Leuridan Cavalcante; Kim, Chong Ae (Elsevier B.V., 2012-10-01)
    • Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up 

      Meloni, Vera Ayres [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Pilla, Ana Luiza [UNIFESP]; Mello, Claudia Berlim de [UNIFESP]; Melaragno, Maria Isabel; Kulikowski, Leslie Domenici (Biomed Central Ltd, 2014-08-22)
      Background: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments ...