Issue Date | Title | Author(s) |
1-Jan-2012 | Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy | Dutra, Ana Rosa Noronha [UNIFESP]; Mancini, Tatiane Iris [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Oliveira, Marcio Moyses de [UNIFESP]; Kim, Chong A.; Perez, Ana Beatriz Alvarez [UNIFESP]; Kulikowski, Leslie Domenici [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP) |
1-May-2013 | Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI | Horovitz, Dafne D. G.; Magalhaes, Tatiana S. P. C.; Acosta, Angelina; Ribeiro, Erlane M.; Giuliani, Liane R.; Palhares, Durval B.; Kim, Chong A.; Paula, Ana Carolina de; Kerstenestzy, Marcelo; Pianovski, Mara A. D.; Costa, Maria Ione F.; Santos, Francisca C.; Martins, Ana Maria [UNIFESP]; Aranda, Carolina Sanchez [UNIFESP]; Correa Neto, Jordao; Moreira Holanda, Gervina Brady; Cardoso, Laercio; Silva, Carlos A. B. da; Bonatti, Renata C. F.; Ribeiro, Bethania F. R.; Rodrigues, Maria do Carmo S.; Llerena, Juan C.; Fiocruz MS; Universidade Federal da Bahia (UFBA); Hosp Albert Sabin; Universidade Federal de Mato Grosso do Sul (UFMS); Universidade de São Paulo (USP); Hosp Barao de Lucena; Univ Fed Parana; Ctr Reabilitacao Infantil; Hosp Univ Maranhao; Universidade Federal de São Paulo (UNIFESP); Univ Fed Rio Grande do Norte; Univ Fortaleza; Univ Fed Triangulo Mineiro; Hosp Clin Acre; Univ Fed Espirito Santo |
1-Jan-2010 | Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia | D'Angelo, Carla S.; Kohl, Ilana; Varela, Monica Castro; Castro, Claudia I. E. de; Kim, Chong A.; Bertola, Debora R.; Lourenco, Charles M.; Koiffmann, Celia P.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP) |
1-Jun-2009 | Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements | D'Angelo, Carla S.; Gajecka, Marzena; Kim, Chong A.; Gentles, Andrew J.; Glotzbach, Caron D.; Shaffer, Lisa G.; Koiffmann, Celia P.; Universidade de São Paulo (USP); Washington State Univ; Polish Acad Sci; Universidade Federal de São Paulo (UNIFESP); Stanford Univ; Signature Genom Labs |
31-Oct-2014 | Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes | D'Angelo, Carla S.; Varela, Monica C.; Castro, Claudia I. E. de; Kim, Chong A.; Bertola, Debora R.; Lourenco, Charles M.; Perez, Ana Beatriz Alvarez [UNIFESP]; Koiffmann, Celia P.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP) |
21-Dec-2011 | Mechanisms of ring chromosome formation, ring instability and clinical consequences | Guilherme, Roberta dos Santos [UNIFESP]; Meloni, Vera de Freitas Ayres [UNIFESP]; Kim, Chong A.; Pellegrino, Renata [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Spinner, Nancy B.; Conlin, Laura K.; Christofolini, Denise Maria [UNIFESP]; Kulikowski, Leslie D.; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Childrens Hosp Philadelphia; Sch Med ABC |
2017 | Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities | Sobreira, Nara; Brucato, Martha; Zhang, Li; Ladd-Acosta, Christine; Ongaco, Chrissie; Romm, Jane; Doheny, Kimberly F.; Mingroni-Netto, Regina C.; Bertola, Debora; Kim, Chong A.; Perez, Ana B. A. [UNIFESP]; Melaragno, Maria I. [UNIFESP]; Valle, David; Meloni, Vera A.; Bjornsson, Hans T. |
1-Oct-2013 | Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18 | Spreiz, Ana; Guilherme, Roberta S. [UNIFESP]; Castellan, Claudio; Green, Andrew; Rittinger, Olaf; Wellek, Brigitte; Utermann, Barbara; Erdel, Martin; Fauth, Christine; Haberlandt, Edda; Kim, Chong A.; Kulikowski, Leslie D.; Meloni, Vera A. [UNIFESP]; Utermann, Gerd; Zschocke, Johannes; Melaragno, Maria I. [UNIFESP]; Kotzot, Dieter; Med Univ Innsbruck; Universidade Federal de São Paulo (UNIFESP); Gen Reg Hosp; Our Ladys Hosp Sick Children; Paracelsus Med Univ; Johannes Gutenberg Univ Mainz |