Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report

por Guilherme, Roberta S, Meloni, Vera de FA, Takeno, Sylvia S, Pellegrino, Renata, Brunoni, Decio, Kulikowski, Leslie D, Melaragno, Maria I
Publicado 2012

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

por Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A
Publicado 2012

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications

por Christofolini, Denise M, Piazzon, Flavia B, Evo, Carolina, Mafra, Fernanda A, Cosenza, Stella R, Dias, Alexandre T, Barbosa, Caio P, Bianco, Bianca, Kulikowski, Leslie D
Publicado 2014

Mechanisms of ring chromosome formation, ring instability and clinical consequences

por Guilherme, Roberta S, Ayres Meloni, Vera F, Kim, Chong A, Pellegrino, Renata, Takeno, Sylvia S, Spinner, Nancy B, Conlin, Laura K, Christofolini, Denise M, Kulikowski, Leslie D, Melaragno, Maria I
Publicado 2011

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

por Costa, Larissa Sampaio de Athayde, Zandona-Teixeira, Aline C., Montenegro, Marilia M., Dias, Alexandre T., Dutra, Roberta L., Honjo, Rachel S., Bertola, Debora R., Kulikowski, Leslie D., Kim, Chong A.
Publicado 2015

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

por Grassi, Marcília S., Jacob, Cristina M. A., Kulikowski, Leslie D., Pastorino, Antonio C., Dutra, Roberta L., Miura, Nana, Jatene, Marcelo B., Pegler, Stephanie P., Kim, Chong A., Carneiro-Sampaio, Magda
Publicado 2014

Establishment and Comprehensive Molecular Characterization of an Immortalized Glioblastoma Cell Line from a Brazilian Patient

por da Silva, Fernanda F., Lupinacci, Fernanda C. S., Elias, Bruno D. S., Beserra, Adriano O., Sanematsu, Paulo, Roffe, Martin, Kulikowski, Leslie D., Costa, Felipe D’almeida, Santos, Tiago G., Hajj, Glaucia N. M.
Publicado 2023

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

por Rocha-Braz, Manuela G M, França, Monica M, Fernandes, Adriana M, Lerario, Antonio M, Zanardo, Evelin A, de Santana, Lucas S, Kulikowski, Leslie D, Martin, Regina M, Mendonca, Berenice B, Ferraz-de-Souza, Bruno
Publicado 2020

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

por Chehimi, Samar N., Zanardo, Évelin A., Ceroni, José R. M., Nascimento, Amom M., Madia, Fabrícia A. R., Dias, Alexandre T., Filho, Gil M. N., Montenegro, Marília M., Damasceno, Jullian, Costa, Thaís V. M. M., Gasparini, Yanca, Kim, Chong A., Kulikowski, Leslie D.
Publicado 2019

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

por Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.
Publicado 2020