Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Journal Article
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome
Smith, Holly, Galmes, Romain, Gogolina, Ekaterina, Straatman-Iwanowska, Anna, Reay, Kim, Banushi, Blerida, Bruce, Christopher K., Cullinane, Andrew R., Romero, Rene, Chang, Richard, Ackermann, Oanez, Baumann, Clarisse, Cangul, Hakan, Cakmak Celik, Fatma, Aygun, Canan, Coward, Richard, Dionisi-Vici, Carlo, Sibbles, Barbara, Inward, Carol, Ae Kim, Chong, Klumperman, Judith, Knisely, A. S., Watson, Steven P., Gissen, Paul
Published in Human mutation (01.12.2012)
Published in Human mutation (01.12.2012)
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Journal Article
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
Mazzeu, Juliana Forte, Pardono, Eliete, Vianna-Morgante, Angela M., Richieri-Costa, Antônio, Ae Kim, Chong, Brunoni, Décio, Martelli, Lúcia, de Andrade, Carlos Eugênio F., Colin, Guilherme, Otto, Paulo A.
Published in American journal of medical genetics. Part A (15.02.2007)
Published in American journal of medical genetics. Part A (15.02.2007)
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Journal Article
Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype
Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto
Published in JIMD reports (01.07.2021)
Published in JIMD reports (01.07.2021)
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Journal Article
Williams syndrome
Kozel, Beth A., Barak, Boaz, Kim, Chong Ae, Mervis, Carolyn B., Osborne, Lucy R., Porter, Melanie, Pober, Barbara R.
Published in Nature reviews. Disease primers (17.06.2021)
Published in Nature reviews. Disease primers (17.06.2021)
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Journal Article
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study
José Francisco da Silva Franco, Dib, Regina El, Agarwal, Arnav, Soares, Diogo, Milhan, Noala Vicensoto Moreira, Albano, Lilian Maria José, Kim, Chong Ae
Published in Intractable & Rare Diseases Research (01.08.2017)
Published in Intractable & Rare Diseases Research (01.08.2017)
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Journal Article
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder
Imagawa, Eri, Seyama, Rie, Aoi, Hiromi, Uchiyama, Yuri, Marcarini, Bruno Guimaraes, Furquim, Isabel, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae, Matsumoto, Naomichi
Published in Clinical genetics (01.04.2023)
Published in Clinical genetics (01.04.2023)
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Journal Article
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation
Karina Lucio De Medeiros Bastos, Caio Robledo Quaio, Fabiana Roberto Lima, Iana Manuelle Arajo, Candice Alves Tavares Arajo, Flvia Balbo Piazzon, Ismael Dale Cotrim Guerreiro Da Silva, Gabriel Nuncio Benevides, Ana Cristina Tannuri, Uenis Tannuri, Ramiro Anthero Azevedo, Chong Ae Kim
Published in Clinical and molecular hepatology (31.03.2019)
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Published in Clinical and molecular hepatology (31.03.2019)
Journal Article
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome
Nunes, Natalia, Carvalho Nunes, Beatriz, Zamariolli, Malú, Cordeiro de Queiroz Soares, Diogo, Caires dos Santos, Leonardo, Gollo Dantas, Anelisa, Ayres Meloni, Vera, Iole Belangero, Sintia, Gil-Da-Silva-Lopes, Vera Lúcia, Ae Kim, Chong, Melaragno, Maria Isabel
Published in Genetics Research (2024)
Published in Genetics Research (2024)
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Journal Article
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing
Homma, Thais Kataoka, Freire, Bruna Lucheze, Honjo Kawahira, Rachel Sayuri, Dauber, Andrew, Funari, Mariana Ferreira de Assis, Lerario, Antônio Marcondes, Nishi, Mirian Yumie, Albuquerque, Edoarda Vasco de, Vasques, Gabriela de Andrade, Collett-Solberg, Paulo Ferrez, Miura Sugayama, Sofia Mizuho, Bertola, Debora Romeo, Kim, Chong Ae, Arnhold, Ivo Jorge Prado, Malaquias, Alexsandra Christianne, Jorge, Alexander Augusto de Lima
Published in The Journal of pediatrics (01.12.2019)
Published in The Journal of pediatrics (01.12.2019)
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Journal Article
Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency
Bastos, Karina Lucio de Medeiros, Stephan, Bruno de Oliveira, Linnenkamp, Bianca Domit Werner, Costa, Larissa Athayde, Lima, Fabiana Roberto, Carvalho, Laura Machado Lara, Honjo, Rachel Sayuri, Tannuri, Uenis, Tannuri, Ana Cristina Aoun, Kim, Chong Ae
Published in International journal of molecular sciences (08.08.2024)
Published in International journal of molecular sciences (08.08.2024)
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Journal Article
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Aoi, Hiromi, Mizuguchi, Takeshi, Ceroni, José Ricard, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S, Iwaki, Takuma, Suzuki, Toshifumi, Sekiguchi, Futoshi, Uchiyama, Yuri, Azuma, Yoshiteru, Hamanaka, Kohei, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Takata, Atsushi, Miyake, Noriko, Takeda, Satoru, Itakura, Atsuo, Bertola, Débora R, Kim, Chong Ae, Matsumoto, Naomichi
Published in Journal of human genetics (01.10.2019)
Published in Journal of human genetics (01.10.2019)
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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
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases
Quaio, Caio Robledo D 'Angioli Costa, Ceroni, Jose Ricardo Magliocco, Cervato, Murilo Castro, Thurow, Helena Strelow, Moreira, Caroline Monaco, Trindade, Ana Carolina Gomes, Furuzawa, Cintia Reys, de Souza, Rafaela Rogerio Floriano, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Kim, Chong Ae
Published in Scientific reports (11.05.2022)
Published in Scientific reports (11.05.2022)
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Journal Article
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables
Pimenta, Larissa Salustiano Evangelista, Mello, Claudia Berlim de, Benedetto, Luciana Mello Di, Soares, Diogo Cordeiro de Queiroz, Kulikowski, Leslie Domenici, Dantas, Anelisa Gollo, Melaragno, Maria Isabel, Kim, Chong Ae
Published in Genes (08.05.2024)
Published in Genes (08.05.2024)
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Journal Article
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma
Pires, Sara Ferreira, Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Kawahira, Rachel Sayuri Honjo, Kim, Chong Ae, Rosenberg, Carla, Teixeira, Anne Caroline Barbosa, Bertola, Debora Romeo, Krepischi, Ana Cristina Victorino
Published in Pediatric blood & cancer (01.11.2020)
Published in Pediatric blood & cancer (01.11.2020)
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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
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Giugliani, Roberto, Barth, Anneliese Lopes, Dumas, Melissa Rossi Calvão, da Silva Franco, José Francisco, de Rosso Giuliani, Liane, Grangeiro, Carlos Henrique Paiva, Horovitz, Dafne Dain Gandelman, Kim, Chong Ae, de Araújo Leão, Emilia Katiane Embiruçu, de Medeiros, Paula Frassinetti Vasconcelos, Miguel, Diego Santana Chaves Geraldo, Moreira, Maria Espírito Santo Almeida, dos Santos, Helena Maria Guimarães Pimentel, da Silva, Luiz Carlos Santana, da Silva, Luiz Roberto, de Souza, Isabel Neves, Nalin, Tatiele, Garcia, Daniel
Published in Orphanet journal of rare diseases (22.05.2021)
Published in Orphanet journal of rare diseases (22.05.2021)
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Journal Article