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
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Simpson, Michael A, Irving, Melita D, Asilmaz, Esra, Gray, Mary J, Dafou, Dimitra, Elmslie, Frances V, Mansour, Sahar, Holder, Sue E, Brain, Caroline E, Burton, Barbara K, Kim, Katherine H, Pauli, Richard M, Aftimos, Salim, Stewart, Helen, Kim, Chong Ae, Holder-Espinasse, Muriel, Robertson, Stephen P, Drake, William M, Trembath, Richard C
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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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
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
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
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
Audiological Characterization of Individuals with Cornelia de Lange Syndrome
Santos, Nayara Pereira, Silva, Liliane Aparecida Fagundes, Neves-Lobo, Ivone Ferreira, Kim, Chong Ae, Matas, Carla Gentile
Published in International Archives of Otorhinolaryngology (01.10.2024)
Published in International Archives of Otorhinolaryngology (01.10.2024)
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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
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
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
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
Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years
Strafacci, Amanda de Sousa Lima, Bertapelli, Fabio, Kim, Chong Ae, Rivadeneira, Maria José, Honjo, Rachel Sayuri, Domenici Kulikowski, Leslie, Ferreira, Danilo Moretti, Batista, Letícia Cassimiro, Lopes, Vera Lúcia Gil da Silva, Guerra Junior, Gil
Published in Jornal de pediatria (01.05.2024)
Published in Jornal de pediatria (01.05.2024)
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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
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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