Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines von 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.

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Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior von 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.

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Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability von 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.

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Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations von 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.

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

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

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Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss von 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

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

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Identifying NAHR mechanism between two distinct Alu elements through breakpoint junction mapping by NGS von 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.

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Application of Whole-Exome Sequencing in for updates Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations von Zanardo, Evelin A., Monteiro, Fabiola P., Chehimi, Samar N., Oliveira, Yanca G., Dias, Alexandre T., Costa, Larissa A., Ramos, Luiza L., Novo-Filho, Gil M., Montenegro, Marilia M., Nascimento, Amom M., Kitajima, Joao P., Kok, Fernando, Kulikowski, Leslie D.

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Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion von 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

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Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience von 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

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Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome von 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

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Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p von 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.

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Case of 15q26-qter deletion associated with a Prader-Willi phenotype von Santos, Jéssica Fernandes dos, Acosta, Angelina Xavier, Scheibler, Gabriela Gayer, Pitanga, Paula Monique Leite, Alves, Esmeralda Santos, Meira, Joanna Goes Castro, Zanardo, Évelin Aline, Kulikowski, Leslie Domenici, Lima, Renata Lúcia Leite Ferreira de, Carvalho, Acácia Fernandes Lacerda de

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Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service von 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

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The interaction between polygenic risk score and trauma affects the likelihood of post-traumatic stress disorder in female victims of sexual assault von Bugiga, Amanda Victória Gomes, Carvalho, Carolina Muniz, Oliveira, Adrielle Martins, Coimbra, Bruno Messina, Chehimi, Samar Nasser, Zanardo, Evelin Aline, Kulikowski, Leslie Domenici, Mello, Andrea Feijó, Ota, Vanessa Kiyomi, Mello, Marcelo Feijo, Belangero, Sintia Iole

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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome von 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

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Post-mortem cytogenomic investigations in patients with congenital malformations von 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

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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome von 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

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