Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Di Lazzaro Filho, Ricardo, Yamamoto, Guilherme Lopes, Silva, Tiago J, Rocha, Leticia A, Linnenkamp, Bianca D W, Castro, Matheus Augusto Araújo, Bartholdi, Deborah, Schaller, André, Leeb, Tosso, Kelmann, Samantha, Utagawa, Claudia Y, Steiner, Carlos E, Steinmetz, Leandra, Honjo, Rachel Sayuri, Kim, Chong Ae, Wang, Lisa, Abourjaili-Bilodeau, Raphaël, Campeau, Philippe M, Warman, Matthew, Passos-Bueno, Maria Rita, Hoch, Nicolas C, Bertola, Debora Romeo
Published in Journal of medical genetics (01.11.2023)
Published in Journal of medical genetics (01.11.2023)
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Journal Article
Stroke in vascular Ehlers-Danlos syndrome
Ranzani Martins, Rebecca, da Silva Paiva, Mauricio Leonardo, da Silva Teixeira, Weverton Carlos, Kawahira, Rachel Sayuri Honjo, Freua, Fernando, Castro, Matheus Augusto Araujo, Kim, Chong Ae, Kok, Fernando
Published in Practical neurology (01.10.2023)
Published in Practical neurology (01.10.2023)
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Journal Article
Novel CLTC variants cause new brain and kidney phenotypes
Itai, Toshiyuki, Miyatake, Satoko, Tsuchida, Naomi, Saida, Ken, Narahara, Sho, Tsuyusaki, Yu, Castro, Matheus Augusto Araujo, Kim, Chong Ae, Okamoto, Nobuhiko, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Journal of human genetics (01.01.2022)
Published in Journal of human genetics (01.01.2022)
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Journal Article
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
Montenegro, Yorran Hardman Araújo, Souza, Carolina Fischinger Moura, Kubaski, Francyne, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Leistner‐Segal, Sandra, Facchin, Ana Carolina Brusius, Medeiros, Fernanda S., Giugliani, Luciana, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Moreira, Maria Lucia Castro, Montano, Hector Quintero, Baldo, Guilherme, Giugliani, Roberto
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Journal Article
Disease progression in Sanfilippo type B: Case series of Brazilian patients
Montenegro, Yorran Hardman Araújo, Kubaski, Francyne, Trapp, Franciele Barbosa, Riegel-Giugliani, Mariluce, Souza, Carolina Fischinger Moura de, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso-Dos-Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Vairo, Filippo Pinto E, Baldo, Guilherme, Giugliani, Roberto, Poswar, Fabiano de Oliveira
Published in Genetics and molecular biology (01.01.2024)
Published in Genetics and molecular biology (01.01.2024)
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Journal Article
De novo pathogenic DHX30 variants in two cases
Miyake, Noriko, Kim, Chong Ae, Haginoya, Kazuhiro, Castro, Matheus Augusto Araujo, Honjo, Rachel Sayruri, Matsumoto, Naomichi
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
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Journal Article
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
Wongkittichote, Parith, Duque Lasio, Maria Laura, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M., Toler, Tomi L., Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan
Published in Molecular genetics and metabolism (01.08.2023)
Published in Molecular genetics and metabolism (01.08.2023)
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Journal Article
Mystery solved after 23 years: M syndrome is PIGT‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3
Nóbrega, Paulo Ribeiro, Castro, Matheus Augusto Araújo, Paiva, Anderson Rodrigues Brandão, Kok, Fernando
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
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Journal Article
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
Seyama, Rie, Uchiyama, Yuri, Ceroni, José Ricard Magliocco, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S., Castro, Matheus Augusto Araujo, Pires, Lucas Vieira Lacerda, Aoi, Hiromi, Iwama, Kazuhiro, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Bertola, Débora R., Kim, Chong Ae, Matsumoto, Naomichi
Published in Genomics (San Diego, Calif.) (01.09.2022)
Published in Genomics (San Diego, Calif.) (01.09.2022)
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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
X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review
Guimarães, Thiago Gonçalves, Parmera, Jacy Bezerra, Castro, Matheus Augusto Araújo, Cury, Rubens Gisbert, Barbosa, Egberto Reis, Kok, Fernando
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.05.2024)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.05.2024)
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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
Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease
Castro, Matheus Augusto Araújo, Fraiman, Pedro Henrique Almeida, Godeiro-Junior, Clecio de Oliveira
Published in Arquivos de neuro-psiquiatria (01.08.2019)
Published in Arquivos de neuro-psiquiatria (01.08.2019)
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Journal Article
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
Inoue, Yuta, Tsuchida, Naomi, Kim, Chong Ae, de Oliveira Stephan, Bruno, Castro, Matheus Augusto Araujo, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Uchiyama, Yuri, Hamanaka, Kohei, Fujita, Atsushi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Journal of human genetics (01.04.2024)
Published in Journal of human genetics (01.04.2024)
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Journal Article
Mystery solved after 23years: M syndrome is PIGT‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3
Paulo Ribeiro Nóbrega, Matheus Augusto Araújo Castro, Anderson Rodrigues Brandão de Paiva, Kok, Fernando
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
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Journal Article
Phenotypic, Molecular, and Functional Characterization of CoQ7-Related Primary CoQ10 Deficiency: Novel Hypomorphic Variants and Two Distinct Disease Entities
Wongkittichote, Parith, Lasio, Maria Laura Duque, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M., Toler, Tomi L., Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan
Published in Molecular genetics and metabolism (22.06.2023)
Published in Molecular genetics and metabolism (22.06.2023)
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Journal Article
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
Nóbrega, Paulo Ribeiro, Brandão Paiva, Anderson Rodrigues, Amorim Junior, Antonio Duarte, Grangeiro Sá Barreto Lima, Pedro Lucas, Souza Cabral, Katiane Sayão, Barcelos, Isabella Peixoto, Santos Pessoa, André Luis, Leite Souza-Lima, Carlos Frederico, Araújo Castro, Matheus Augusto, Freua, Fernando, de Santana Santos, Emerson, Vieira Rocha, Margleice Marinho, Maia, Rayana Elias, Araújo, Rodrigo Santos, Guevara Ramos, Juan David, Resende, Rosane Guazi, da Silva Carvalho, Gerson, Andrade Valença, Luciana Patrizia, Lima Carvalho Júnior, José Ronaldo, Melo, Eduardo Sousa, Pedroso, José Luiz, Povoas Barsottini, Orlando Graziani, Houlden, Henry, Kok, Fernando, Lynch, David S.
Published in Genetics in medicine (08.10.2024)
Published in Genetics in medicine (08.10.2024)
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Journal Article
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ 10 deficiency: Hypomorphic variants and two distinct disease entities
Wongkittichote, Parith, Duque Lasio, Maria Laura, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M, Toler, Tomi L, Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan
Published in Molecular genetics and metabolism (01.08.2023)
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Published in Molecular genetics and metabolism (01.08.2023)
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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