Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome
Almeida, Vanessa Tavares, Chehimi, Samar N, Carvalho, Gleyson F S, Gasparini, Yanca, Nascimento, Amom M, Vieira, Lucas L, Wolff, Beatriz M, Montenegro, Marília M, Kulikowski, Leslie D
Published in BMC research notes (29.04.2024)
Published in BMC research notes (29.04.2024)
Get full text
Journal Article
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)
Get full text
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)
Get full text
Journal Article
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)
Get full text
Journal Article
DNA methylation epi-signature and biological age in attention deficit hyperactivity disorder patients
Carvalho, Gleyson Francisco da Silva, Costa, Thais Virginia Moura Machado, Nascimento, Amom Mendes, Wolff, Beatriz Martins, Damasceno, Julian Gabriel, Vieira, Lucas Liro, Almeida, Vanessa Tavares, Oliveira, Yanca Gasparini de, Mello, Claudia Berlim de, Muszkat, Mauro, Kulikowski, Leslie Domenici
Published in Clinical neurology and neurosurgery (01.05.2023)
Published in Clinical neurology and neurosurgery (01.05.2023)
Get full text
Journal Article
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
Silva, André Macedo Serafim, Rodrigo, Patricia, Moreno, Cristiane Araújo Martins, Mendonça, Rodrigo de Holanda, Estephan, Eduardo de Paula, Camelo, Clara Gontijo, Campos, Eliene Dutra, Dias, Alexandre Torchio, Nascimento, Amom Mendes, Kulikowski, Leslie Domenici, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Goldfarb, Lev G, Olivé, Montse, Zanoteli, Edmar
Published in Journal of neuropathology and experimental neurology (01.09.2022)
Published in Journal of neuropathology and experimental neurology (01.09.2022)
Get full text
Journal Article
Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service
Adriano, Márcia Regina Gimenes, Bortolai, Adriana, Madia, Fabricia Andreia Rosa, da Silva Carvalho, Gleyson Francisco, Nascimento, Amom Mendes, Zanardo, Evelin Aline, Wolff, Beatriz Martins, Waisberg, Jaques, Bos-Mikich, Adriana, Kulikowski, Leslie Domenici, Dias, Alexandre Torchio
Published in BMC research notes (05.03.2024)
Published in BMC research notes (05.03.2024)
Get full text
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)
Get more information
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)
Get full text
Journal Article
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
Zanardo, Évelin Aline, Dutra, Roberta Lelis, Piazzon, Flavia Balbo, Dias, Alexandre Torchio, Novo-Filho, Gil Monteiro, Nascimento, Amom Mendes, Montenegro, Marília Moreira, Damasceno, Jullian Gabriel, Madia, Fabrícia Andreia Rosa, da Costa, Thaís Virgínia Moura Machado, Melaragno, Maria Isabel, Kim, Chong Ae, Kulikowski, Leslie Domenici
Published in Clinics (São Paulo, Brazil) (01.10.2017)
Published in Clinics (São Paulo, Brazil) (01.10.2017)
Get full text
Journal Article
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)
Get full text
Journal Article
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
Zanardo, Évelin Aline, Piazzon, Flavia Balbo, Dutra, Roberta Lelis, Dias, Alexandre Torchio, Montenegro, Marília Moreira, Novo-Filho, Gil Monteiro, Costa, Thaís Virgínia Moura Machado, Nascimento, Amom Mendes, Kim, Chong Ae, Kulikowski, Leslie Domenici
Published in Molecular genetics and genomics : MGG (01.12.2014)
Published in Molecular genetics and genomics : MGG (01.12.2014)
Get full text
Journal Article
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
Montenegro, Marília Moreira, Camilotti, Débora, Quaio, Caio Robledo D’Anglioli Costa, Gasparini, Yanca, Zanardo, Évelin Aline, Rangel-Santos, Andreia, Novo-Filho, Gil Monteiro, Francisco, Gleyson, Liro, Lucas, Nascimento, Amom, Chehimi, Samar Nasser, Soares, Diogo Cordeiro Queiroz, Krepischi, Ana C.V., Grassi, Marcília Sierro, Honjo, Rachel Sayuri, Palmeira, Patricia, Kim, Chong Ae, Carneiro-Sampaio, Magda Maria Sales, Rosenberg, Carla, Kulikowski, Leslie Domenici
Published in The Journal of pediatrics (01.01.2023)
Published in The Journal of pediatrics (01.01.2023)
Get full text
Journal Article
Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome
Chehimi, Samar Nasser, Almeida, Vanessa Tavares, Nascimento, Amom Mendes, Zanardo, Évelin Aline, de Oliveira, Yanca Gasparini, Carvalho, Gleyson Francisco da Silva, Wolff, Beatriz Martins, Montenegro, Marilia Moreira, de Assunção, Nilson Antônio, Kim, Chong Ae, Kulikowski, Leslie Domenici
Published in Clinics (São Paulo, Brazil) (01.01.2022)
Published in Clinics (São Paulo, Brazil) (01.01.2022)
Get full text
Journal Article
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)
Get more information
Journal Article
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
Zanardo, Évelin Aline, Piazzon, Flavia Balbo, Dutra, Roberta Lelis, Dias, Alexandre Torchio, Montenegro, Marília Moreira, Novo-Filho, Gil Monteiro, Costa, Thaís Virgínia Moura Machado, Nascimento, Amom Mendes, Kim, Chong Ae, Kulikowski, Leslie Domenici
Published in Molecular genetics and genomics : MGG (01.12.2014)
Published in Molecular genetics and genomics : MGG (01.12.2014)
Get full text
Journal Article
Post-mortem cytogenomic investigations in patients with congenital malformations
Dias, Alexandre Torchio, Zanardo, Évelin Aline, Dutra, Roberta Lelis, Piazzon, Flavia Balbo, Novo-Filho, Gil Monteiro, Montenegro, Marilia Moreira, Nascimento, Amom Mendes, Rocha, Mariana, Madia, Fabricia Andreia Rosa, Costa, Thais Virgínia Moura Machado, Milani, Cintia, Schultz, Regina, Gonçalves, Fernanda Toledo, Fridman, Cintia, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Kim, Chong Ae, Kulikowski, Leslie Domenici
Published in Experimental and molecular pathology (01.08.2016)
Published in Experimental and molecular pathology (01.08.2016)
Get full text
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)
Get full text
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)
Get full text
Report