A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation
Dangoni, Gustavo Dib, Teixeira, Anne Caroline Barbosa, Aguiar, Talita Ferreira, Sugayama, Sofia Mizuho Miura, Filho, Vicente Odone, Bertola, Débora Romeo, Krepischi, Ana Cristina Victorino
Published in Pediatric blood & cancer (01.07.2023)
Published in Pediatric blood & cancer (01.07.2023)
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Journal Article
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics
Honjo, Rachel Sayuri, Castro, Matheus Augusto Araújo, Ferraciolli, Suely Fazio, Soares Junior, Luiz Alberto Valente, Pastorino, Antonio Carlos, Bertola, Débora Romeo, Miyake, Noriko, Matsumoto, Naomichi, Kim, Chong Ae
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Journal Article
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes
Moreno, Carolina Araujo, Metze, Konradin, Lomazi, Elizete Aparecida, Bertola, Débora Romeo, Barbosa, Ricardo Henrique Almeida, Cosentino, Viviana, Sobreira, Nara, Cavalcanti, Denise Pontes
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
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Journal Article
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal, Gabriela Ferraz, Nishimura, Gen, Voss, Ulrika, Bertola, Débora Romeo, Åström, Eva, Svensson, Johan, Yamamoto, Guilherme Lopes, Hammarsjö, Anna, Horemuzova, Eva, Papadogiannakis, Nikos, Iwarsson, Erik, Grigelioniene, Giedre, Tham, Emma
Published in Journal of bone and mineral research (01.04.2018)
Published in Journal of bone and mineral research (01.04.2018)
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Journal Article
Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome
Castro, Matheus Augusto Araújo, Santos, Juliana Heather Vedovato, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Hurst, Anna C., Chorich, Lynn P., Layman, Lawrence C., Kim, Chong Ae, Kim, Hyung‐Goo
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
Rocha, Letícia Alves, Pires, Lucas Vieira Lacerda, Yamamoto, Guilherme Lopes, Ceroni, José Ricardo, Honjo, Rachel Sayuri, França Bisneto, Edgard, Oliveira, Luiz Antônio Nunes, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Passos‐Bueno, Maria Rita, Kim, Chong Ae, Bertola, Débora Romeo
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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Journal Article
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
Ceroni, José Ricardo Magliocco, Spolador, Gustavo Marquezani, Bermeo, Diana Salazar, Honjo, Rachel Sayuri, de Oliveira, Luiz Antonio Nunes, Bertola, Débora Romeo, Kim, Chong Ae
Published in Skeletal radiology (01.08.2019)
Published in Skeletal radiology (01.08.2019)
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Journal Article
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
Moreira, Danielle de Paula, Suzuki, Angela May, Silva, André Luiz Teles E, Varella-Branco, Elisa, Meneghetti, Maria Cecília Zorél, Kobayashi, Gerson Shigeru, Fogo, Mariana, Ferrari, Merari de Fátima Ramires, Cardoso, Rafaela Regina, Lourenço, Naila Cristina Vilaça, Griesi-Oliveira, Karina, Zachi, Elaine Cristina, Bertola, Débora Romeo, Weinmann, Karina de Souza, de Lima, Marcelo Andrade, Nader, Helena Bonciani, Sertié, Andrea Laurato, Passos-Bueno, Maria Rita
Published in Frontiers in cellular neuroscience (13.01.2022)
Published in Frontiers in cellular neuroscience (13.01.2022)
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Journal Article
Challenges in the Orthodontic Treatment of a Patient with Pycnodysostosis
Vieira Ortegosa, Márcio, Romeo Bertola, Débora, Aguena, Meire, Passos-Bueno, Maria Rita, Ae Kim, Chong, Justamante De Faria, Maria Estela
Published in The Cleft palate-craniofacial journal (01.11.2014)
Published in The Cleft palate-craniofacial journal (01.11.2014)
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Journal Article
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism
Meira, Joanna Goes Castro, Sarno, Manoel Alfredo Curvelo, Faria, Ágatha Cristhina Oliveira, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Scheibler, Gabriela Gayer, Tavares, Dione Fernandes, Acosta, Angelina Xavier
Published in Revista Brasileira de ginecologia e obstetrícia (01.09.2018)
Published in Revista Brasileira de ginecologia e obstetrícia (01.09.2018)
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Journal Article
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Yamamoto, Guilherme Lopes, Aguena, Meire, Gos, Monika, Hung, Christina, Pilch, Jacek, Fahiminiya, Somayyeh, Abramowicz, Anna, Cristian, Ingrid, Buscarilli, Michelle, Naslavsky, Michel Satya, Malaquias, Alexsandra C, Zatz, Mayana, Bodamer, Olaf, Majewski, Jacek, Jorge, Alexander A L, Pereira, Alexandre C, Kim, Chong Ae, Passos-Bueno, Maria Rita, Bertola, Débora Romeo
Published in Journal of medical genetics (01.06.2015)
Published in Journal of medical genetics (01.06.2015)
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Journal Article
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko, Spranger, Jürgen, Schiffmann, Raphael, Vanderver, Adeline, Nishimura, Gen, Passos-Bueno, Maria Rita dos Santos, Simons, Cas, Ishikawa, Kinya, Ikegawa, Shiro
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
Hatagami Marques, Júlia, Lopes Yamamoto, Guilherme, de Cássia Testai, Larissa, da Costa Pereira, Alexandre, Kim, Chong Ae, Passos-Bueno, Maria R., Romeo Bertola, Débora
Published in Molecular syndromology (01.07.2015)
Published in Molecular syndromology (01.07.2015)
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Journal Article
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
Bertola, Débora Romeo, Pereira, Alexandre Costa, Brasil, Amanda Salem, Albano, Lilian Maria José, Kim, Chong Ae, Krieger, José Eduardo
Published in Journal of human genetics (01.06.2007)
Published in Journal of human genetics (01.06.2007)
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Journal Article
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Freire, Bruna Lucheze, Homma, Thais Kataoka, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Passos-Bueno, Maria Rita, Koiffmann, Celia Priszkulnik, Kim, Chong Ae, Vianna-Morgante, Angela Maria, de Lima Jorge, Alexander Augusto, Bertola, Débora Romeo, Rosenberg, Carla, Krepischi, Ana Cristina Victorino
Published in Journal of autism and developmental disorders (01.03.2024)
Published in Journal of autism and developmental disorders (01.03.2024)
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Journal Article
Tegumentary manifestations of Noonan and Noonan-related syndromes
Quaio, Caio Robledo D'Angioli Costa, de Almeida, Tatiana Ferreira, Brasil, Amanda Salem, Pereira, Alexandre C., Jorge, Alexander A.L., Malaquias, Alexsandra C., Kim, Chong Ae, Bertola, Débora Romeo
Published in Clinics (São Paulo, Brazil) (01.01.2013)
Published in Clinics (São Paulo, Brazil) (01.01.2013)
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Journal Article
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
Carvalho, Laura Machado Lara, Jorge, Alexander Augusto de Lima, Bertola, Débora Romeo, Krepischi, Ana Cristina Victorino, Rosenberg, Carla
Published in Current obesity reports (01.06.2024)
Published in Current obesity reports (01.06.2024)
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Journal Article
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders
Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Scliar, Marília de Oliveira, de Souza, Carolina Fischinger Moura, Van Der Linden Jr, Hélio, Fernandes, Walter Luiz Magalhães, Otto, Paulo Alberto, Vianna-Morgante, Angela M., Haddad, Luciana Amaral, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Kim, Chong Ae, Rosenberg, Carla, Jorge, Alexander Augusto de Lima, Bertola, Débora Romeo, Krepischi, Ana Cristina Victorino
Published in Molecular neurobiology (01.08.2024)
Published in Molecular neurobiology (01.08.2024)
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Journal Article
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1
Saida, Ken, Kim, Chong Ae, Ceroni, José Ricardo Magliocco, Bertola, Debora Romeo, Honjo, Rachel Sayuri, Mitsuhashi, Satomi, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Matsumoto, Naomichi
Published in Journal of human genetics (01.09.2019)
Published in Journal of human genetics (01.09.2019)
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Journal Article