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
Ocular manifestations of Noonan syndrome
da Rocha Pitta Marin, Lenina, Bezerra Gaspar Carvalho da Silva, Felipe Theodoro, Ferreira de Sá, Luís Carlos, Brasil, Amanda Salem, Pereira, Alexandre, Furquim, Isabel Mosca, Ae Kim, Chong, Bertola, Débora Romeo
Published in Ophthalmic genetics (01.03.2012)
Published in Ophthalmic genetics (01.03.2012)
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Journal Article
Copy Number Variations on Chromosome 4q26–27 Are Associated with Cantu Syndrome
Kurban, Mazen, Kim, Chong Ae, Kiuru, Maija, Fantauzzo, Katherine, Cabral, Rita, Abbas, Ossama, Levy, Brynn, Christiano, Angela M.
Published in Dermatology (Basel) (01.01.2011)
Published in Dermatology (Basel) (01.01.2011)
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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
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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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
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian
Published in American journal of human genetics (03.10.2019)
Published in American journal of human genetics (03.10.2019)
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Journal Article
Cardiac findings in 31 patients with Noonan's syndrome
Bertola, D R, Kim, C A, Sugayama, S M, Albano, L M, Wagenführ, J, Moysés, R L, Gonzalez, C H
Published in Arquivos brasileiros de cardiologia (01.11.2000)
Published in Arquivos brasileiros de cardiologia (01.11.2000)
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Journal Article
Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome
Monteiro, Rebeca Orselli, Tafla, Tally Lichtensztejn, Rodriguez, Juliana Dalla Martha, Teixeira, Sabine Triguero, Honjo, Rachel Sayuri, Kim, Chong Ae, Teixeira, Maria Cristina Triguero Veloz
Published in Journal of applied research in intellectual disabilities (01.11.2023)
Published in Journal of applied research in intellectual disabilities (01.11.2023)
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Insights from the genetic characterization of central precocious puberty associated with multiple anomalies
Canton, Ana Pinheiro Machado, Krepischi, Ana Cristina Victorino, Montenegro, Luciana Ribeiro, Costa, Silvia, Rosenberg, Carla, Steunou, Virginie, Sobrier, Marie-Laure, Santana, Lucas, Honjo, Rachel Sayuri, Kim, Chong Ae, de Zegher, Francis, Idkowiak, Jan, Gilligan, Lorna C, Arlt, Wiebke, Funari, Mariana Ferreira de Assis, Jorge, Alexander Augusto de Lima, Mendonca, Berenice Bilharinho, Netchine, Irène, Brito, Vinicius Nahime, Latronico, Ana Claudia
Published in Human reproduction (Oxford) (25.01.2021)
Published in Human reproduction (Oxford) (25.01.2021)
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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
Estresse em crianças e adolescentes com Síndrome de Williams-Beuren em idade escolar
Vera Alice Alcantara dos Santos Amaral, Michele Moreira Nunes, Honjo, Rachel Sayuri, Dutra, Roberta Lelis, Assumpção, Francisco Baptista, Kim, Chong Ae
Published in Psicologia Escolar e Educacional (Online) (2013)
Published in Psicologia Escolar e Educacional (Online) (2013)
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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
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Uchiyama, Yuri, Yamaguchi, Daisuke, Iwama, Kazuhiro, Miyatake, Satoko, Hamanaka, Kohei, Tsuchida, Naomi, Aoi, Hiromi, Azuma, Yoshiteru, Itai, Toshiyuki, Saida, Ken, Fukuda, Hiromi, Sekiguchi, Futoshi, Sakaguchi, Tomohiro, Lei, Ming, Ohori, Sachiko, Sakamoto, Masamune, Kato, Mitsuhiro, Koike, Takayoshi, Takahashi, Yukitoshi, Tanda, Koichi, Hyodo, Yuki, Honjo, Rachel S., Bertola, Debora Romeo, Kim, Chong Ae, Goto, Masahide, Okazaki, Tetsuya, Yamada, Hiroyuki, Maegaki, Yoshihiro, Osaka, Hitoshi, Ngu, Lock‐Hock, Siew, Ch'ng G., Teik, Keng W., Akasaka, Manami, Doi, Hiroshi, Tanaka, Fumiaki, Goto, Tomohide, Guo, Long, Ikegawa, Shiro, Haginoya, Kazuhiro, Haniffa, Muzhirah, Hiraishi, Nozomi, Hiraki, Yoko, Ikemoto, Satoru, Daida, Atsuro, Hamano, Shin‐ichiro, Miura, Masaki, Ishiyama, Akihiko, Kawano, Osamu, Kondo, Akane, Matsumoto, Hiroshi, Okamoto, Nobuhiko, Okanishi, Tohru, Oyoshi, Yukimi, Takeshita, Eri, Suzuki, Toshifumi, Ogawa, Yoshiyuki, Handa, Hiroshi, Miyazono, Yayoi, Koshimizu, Eriko, Fujita, Atsushi, Takata, Atsushi, Miyake, Noriko, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Human mutation (01.01.2021)
Published in Human mutation (01.01.2021)
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The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion
Da Cás, Eduardo, Pires, Lucas V.L., Linnenkamp, Bianca D.W., Allegro, Marcella C., Honjo, Rachel S., Bertola, Débora R., Aoi, Hiromi, Matsumoto, Naomichi, Kim, Chong Ae
Published in European journal of medical genetics (01.10.2024)
Published in European journal of medical genetics (01.10.2024)
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Journal Article
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
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
Published in The Journal of pediatrics (01.01.2023)
Published in The Journal of pediatrics (01.01.2023)
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Journal Article
Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases
Honjo, Rachel Sayuri, Monteleone, Vanessa Figueiredo, Aiello, Vera Demarchi, Wagenfuhr, Jaqueline, Issa, Victor Sarli, Pomerantzeff, Pablo Maria Alberto, Furusawa, Erika Arai, Zanardo, Evelin Aline, Kulikowski, Leslie Domenici, Bertola, Debora Romeo, Kim, Chong Ae
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
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Journal Article
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry
Ali, Taccyanna M., Linnenkamp, Bianca D. W., Yamamoto, Guilherme L., Honjo, Rachel S., Cabral de Menezes Filho, Hamilton, Kim, Chong Ae, Bertola, Débora R.
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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