Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases
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.
Published in Molecular genetics & genomic medicine (01.04.2020)
Published in Molecular genetics & genomic medicine (01.04.2020)
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Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry
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.
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations
Zanardo, Évelin A., Monteiro, Fabíola P., Chehimi, Samar N., Oliveira, Yanca G., Dias, Alexandre T., Costa, Larissa A., Ramos, Luiza L., Novo-Filho, Gil M., Montenegro, Marília M., Nascimento, Amom M., Kitajima, João P., Kok, Fernando, Kulikowski, Leslie D.
Published in The Journal of molecular diagnostics : JMD (01.08.2020)
Published in The Journal of molecular diagnostics : JMD (01.08.2020)
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Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss
Candelaria, Gabriela de Toledo Passos, Antunes, Alexandre de A, Pastorino, Antonio C, Dorna, Mayra de B, Zanardo, Evelin A, Dias, Alexandre T, Sugayama, Sofia M M, Odone-Filho, Vicente, Kulikowski, Leslie D, Garanito, Marlene P
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2023)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2023)
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Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines
Gasparini, Yanca, Montenegro, Marília M, Novo-Filho, Gil M, Ceroni, José R M, Honjo, Rachel S, Zanardo, Évelin A, Dias, Alexandre T, Nascimento, Amon M, Costa, Taís V M M, Madia, Fabrícia A, Chehimi, Samar N, Damasceno, Jullian G, Kim, Chong A, Kulikowski, Leslie D
Published in Cytogenetic and genome research (01.01.2019)
Published in Cytogenetic and genome research (01.01.2019)
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Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p
Almeida, Vanessa T., Chehimi, Samar N., Gasparini, Yanca, Nascimento, Amom M., Carvalho, Gleyson F.S., Montenegro, Marília M., Zanardo, Évelin Aline, Dias, Alexandre T., Assunção, Nilson A., Kim, Chong A., Kulikowski, Leslie D.
Published in Molecular syndromology (01.01.2023)
Published in Molecular syndromology (01.01.2023)
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Journal Article
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability
Novo-Filho, Gil M, Montenegro, Marília M, Zanardo, Évelin A, Dutra, Roberta L, Dias, Alexandre T, Piazzon, Flavia B, Costa, Taís V M M, Nascimento, Amom M, Honjo, Rachel S, Kim, Chong A, Kulikowski, Leslie D
Published in Cytogenetic and genome research (01.01.2016)
Published in Cytogenetic and genome research (01.01.2016)
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Journal Article
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior
Dutra, Roberta L., Piazzon, Flavia B., Zanardo, Évelin A., Costa, Thais Virginia Moura Machado, Montenegro, Marília M., Novo-Filho, Gil M., Dias, Alexandre T., Nascimento, Amom M., Kim, Chong Ae, Kulikowski, Leslie D.
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome
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
Published in Molecular cytogenetics (26.06.2015)
Published in Molecular cytogenetics (26.06.2015)
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Journal Article
Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
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
Published in Molecular cytogenetics (24.04.2014)
Published in Molecular cytogenetics (24.04.2014)
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Journal Article
Identifying NAHR mechanism between two distinct Alu elements through breakpoint junction mapping by NGS
Novo-Filho, Gil M., Carvalho, Gleyson F.S., Nascimento, Amom M., Montenegro, Marilia M., Damasceno, Jullian G., Zanardo, Évelin A., Chehimi, Samar N., Oliveira, Yanca G., Dias, Alexandre T., Kim, Chong A., Kulikowski, Leslie D.
Published in Meta Gene (01.06.2020)
Published in Meta Gene (01.06.2020)
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Journal Article
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p
Almeida, Vanessa T, Chehimi, Samar N, Gasparini, Yanca, Nascimento, Amom M, Carvalho, Gleyson F S, Montenegro, Marília M, Zanardo, Évelin Aline, Dias, Alexandre T, Assunção, Nilson A, Kim, Chong A, Kulikowski, Leslie D
Published in Molecular syndromology (01.01.2023)
Published in Molecular syndromology (01.01.2023)
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Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
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
Published in Molecular cytogenetics (01.01.2014)
Published in Molecular cytogenetics (01.01.2014)
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