Works matching AU Ae Kim, Chong

Results: 81
    1

    Prevalence of mutations in AGPAT2 among human lipodystrophies.

    Published in:
    2003
    By:
    • Magré, Jocelyne;
    • Delépine, Marc;
    • Van Maldergem, Lionel;
    • Robert, Jean-Jacques;
    • Maassen, J. Antonie;
    • Meier, Muriel;
    • Panz, Vanessa R.;
    • Chong Ae Kim;
    • Kim, Chong Ae;
    • Tubiana-Rufi, Nadia;
    • Czernichow, Paul;
    • Seemanova, Eva;
    • Buchanan, Charles R.;
    • Lacombe, Didier;
    • Vigouroux, Corinne;
    • Lascols, Olivier;
    • Kahn, C. Ronald;
    • Capeau, Jacqueline;
    • Lathrop, Mark;
    • Magré, Jocelyne
    Publication type:
    journal article
    2

    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

    Published in:
    Human Mutation, 2012, v. 33, n. 12, p. 1656, doi. 10.1002/humu.22155
    By:
    • 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
    Publication type:
    Article
    3
    4

    22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

    Published in:
    Genes, 2024, v. 15, n. 4, p. 518, doi. 10.3390/genes15040518
    By:
    • de Wallau, Melissa Bittencourt;
    • Xavier, Ana Carolina;
    • Moreno, Carolina Araújo;
    • Kim, Chong Ae;
    • Mendes, Elaine Lustosa;
    • Ribeiro, Erlane Marques;
    • Oliveira, Amanda;
    • Félix, Têmis Maria;
    • Fett-Conte, Agnes Cristina;
    • Bonadia, Luciana Cardoso;
    • Correia-Costa, Gabriela Roldão;
    • Monlleó, Isabella Lopes;
    • Gil-da-Silva-Lopes, Vera Lúcia;
    • Vieira, Társis Paiva
    Publication type:
    Article
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    Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 303, doi. 10.1038/ng.779
    By:
    • 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.
    Publication type:
    Article
    8

    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

    Published in:
    Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
    By:
    • King, Lily M.;
    • Morgan, Timothy;
    • Sebald, Eiman T.;
    • Bertolotto, Cristina;
    • Wachsmann-Hogiu, Sebastian;
    • Acuna, Dora;
    • Shapiro, Sandor S.;
    • Takafuta, Toshiro;
    • Aftimos, Salim;
    • Chong Ae Kim;
    • Firth, Helen;
    • Steiner, Carlos E.;
    • Cormier-Daire, Valerie;
    • Superti-Furga, Andrea;
    • Bonafe, Luisa;
    • Graham Jr, John M.;
    • Grix, Arthur;
    • Bacino, Carlos A.;
    • Allanson, Judith;
    • Bialer, Martin G.
    Publication type:
    Article
    9

    CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 319, doi. 10.1038/15496
    By:
    • Marcelino, Jose;
    • Carpten, John D.;
    • Suwairi, Wafaa M.;
    • Gutierrez, Orlando M.;
    • Schwartz, Stuart;
    • Robbins, Christiane;
    • Sood, Raman;
    • Makalowska, Izabela;
    • Baxevanis, Andy;
    • Johnstone, Brian;
    • Laxer, Ronald M.;
    • Zemel, Lawrence;
    • Kim, Chong Ae;
    • Herd, J. Kenneth;
    • Ihle, Johannes;
    • Williams, Cal;
    • Johnson, Mark;
    • Raman, Vidya;
    • Alonso, Luís Garcia
    Publication type:
    Article
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    Cognitive and behavioral profile of Williams Syndrome toddlers.

    Published in:
    CoDAS, 2018, v. 30, n. 4, p. 1, doi. 10.1590/2317-1782/20182017188
    By:
    • Braga, Ana Claúdia;
    • Rodrigues Carreiro, Luiz Renato;
    • Tafla, Tally Lichtensztejn;
    • Giaretta Ranalli, Nadia Maria;
    • Costa e Silva, Maria Fernanda;
    • Honjo, Rachel Sayuri;
    • Chong Ae Kim;
    • Veloz Teixeira, Maria Cristina Triguero
    Publication type:
    Article
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    15

    Indicadores socioemocionais do espectro do autismo em pessoas com síndrome de Williams.

    Published in:
    Psicologia: Teoria e Prática, 2016, v. 18, n. 1, p. 178, doi. 10.15348/1980-6906/psicologia.v18n1p178-193
    By:
    • Veloz Teixeira, Maria Cristina Triguero;
    • da Silva Baraldi, Gisele;
    • Emerich, Deisy Ribas;
    • de Wolinsk Miklos, Mathias Levy;
    • da Silva, Naiara Adorna;
    • de Freitas Marino, Regina Luíza;
    • Chong Ae Kim;
    • Honjo, Rachel Sayuri;
    • Brunoni, Décio;
    • Osório, Ana Alexandra Caldas
    Publication type:
    Article
    16

    Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy.

    Published in:
    PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034195
    By:
    • Pereira, Fernanda dos Santos;
    • Matte, Ursula;
    • Habekost, Clarissa Troller;
    • Machado^de Castilhos, Raphael;
    • Husny, Antonette Souto El;
    • Lourenço, Charles Marques;
    • Vianna-Morgante, Angela M.;
    • Giuliani, Liane;
    • Galera, Marcial Francis;
    • Honjo, Rachel;
    • Kim, Chong Ae;
    • Politei, Juan;
    • Vargas, Carmen Regla;
    • Jardim, Laura Bannach
    Publication type:
    Article
    17
    18

    Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

    Published in:
    2021
    By:
    • 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;
    • Zegher, Francis de;
    • 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
    Publication type:
    journal article
    19

    Exuberant Juvenile Hyaline Fibromatosis in Two Patients.

    Published in:
    Pediatric Dermatology, 2006, v. 23, n. 5, p. 458, doi. 10.1111/j.1525-1470.2006.00283.x
    By:
    • Muniz, Mariela Leão;
    • Lobo, Alice Zoghbi Coelho;
    • Machado, Maria Cecília da Matta Rivitti;
    • Valente, Neusa Yuriko Sakai;
    • Kim, Chong Ae;
    • Lourenço, Sílvia Vanessa;
    • Nico, Marcello Menta Simonsen
    Publication type:
    Article
    20
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    22

    Ocular manifestations of Noonan syndrome.

    Published in:
    Ophthalmic Genetics, 2012, v. 33, n. 1, p. 1, doi. 10.3109/13816810.2011.593606
    By:
    • 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
    Publication type:
    Article
    23
    24

    Dental Evaluation of Kabuki Syndrome Patients.

    Published in:
    Cleft Palate Craniofacial Journal, 2009, v. 46, n. 6, p. 668, doi. 10.1597/08-077.1
    By:
    • Teixeira, Camila Santos;
    • Silva, Claudia Renata Leite;
    • Honjo, Rachel Sayuri;
    • Bertola, Débora Romeo;
    • Albano, Lílian Maria José;
    • Chong Ae Kim
    Publication type:
    Article
    25
    26

    Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 4, p. 383, doi. 10.1111/cge.14296
    By:
    • Imagawa, Eri;
    • Seyama, Rie;
    • Aoi, Hiromi;
    • Uchiyama, Yuri;
    • Marcarini, Bruno Guimaraes;
    • Furquim, Isabel;
    • Honjo, Rachel Sayuri;
    • Bertola, Debora Romeo;
    • Kim, Chong Ae;
    • Matsumoto, Naomichi
    Publication type:
    Article
    27
    28

    Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 5, p. 615, doi. 10.1111/cge.14041
    By:
    • da Rocha, Letícia Alves;
    • Pires, Lucas Vieira Lacerda;
    • Yamamoto, Guilherme Lopes;
    • Magliocco Ceroni, José Ricardo;
    • Honjo, Rachel Sayuri;
    • de Novaes França Bisneto, Edgard;
    • Oliveira, Luiz Antônio Nunes;
    • Rosenberg, Carla;
    • Krepischi, Ana Cristina Victorino;
    • Passos‐Bueno, Maria Rita;
    • Kim, Chong Ae;
    • Bertola, Débora Romeo
    Publication type:
    Article
    29

    De novo pathogenic DHX30 variants in two cases.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 3, p. 350, doi. 10.1111/cge.14013
    By:
    • Miyake, Noriko;
    • Kim, Chong Ae;
    • Haginoya, Kazuhiro;
    • Castro, Matheus Augusto Araujo;
    • Honjo, Rachel Sayruri;
    • Matsumoto, Naomichi
    Publication type:
    Article
    30
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    34

    Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63544
    By:
    • Migliavacca, Michele P.;
    • Sobreira, Joselito;
    • Bermeo, Diana;
    • Gomes, Mireille;
    • Alencar, Dayse;
    • Sussuchi, Luciane;
    • Souza, Camila Alves;
    • Silva, Juliana Santos;
    • Kroll, José Eduardo;
    • Burger, Matheus;
    • Guarischi‐Sousa, Rodrigo;
    • Villela, Darine;
    • Yamamoto, Guilherme L.;
    • Milanezi, Fernanda;
    • Horigoshi, Nelson;
    • Cesar, Regina Grigolli;
    • de Carvalho, Werther Brunow;
    • Honjo, Rachel Sayuri;
    • Bertola, Debora Romeo;
    • Kim, Chong Ae
    Publication type:
    Article
    35
    36

    Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 760, doi. 10.1002/ajmg.a.62572
    By:
    • Montenegro, Yorran Hardman Araújo;
    • de 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
    Publication type:
    Article
    37
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    41

    Nutritional aspects of Noonan syndrome and Noonan-related disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1525, doi. 10.1002/ajmg.a.37639
    By:
    • da Silva, Fernanda Marchetto;
    • Jorge, Alexander Augusto;
    • Malaquias, Alexandra;
    • da Costa Pereira, Alexandre;
    • Yamamoto, Guilherme Lopes;
    • Kim, Chong Ae;
    • Bertola, Debora
    Publication type:
    Article
    42
    43

    Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1659, doi. 10.1002/ajmg.a.36512
    By:
    • Guilherme, Roberta Santos;
    • Soares, Karina Cunha;
    • Simioni, Milena;
    • Vieira, Tarsis Paiva;
    • Gil‐da‐Silva‐Lopes, Vera Lúcia;
    • Kim, Chong Ae;
    • Brunoni, Décio;
    • Spinner, Nancy Bettina;
    • Conlin, Laura Kathleen;
    • Christofolini, Denise Maria;
    • Kulikowski, Leslie Domenici;
    • Steiner, Carlos Eduardo;
    • Melaragno, Maria Isabel
    Publication type:
    Article
    44
    45

    Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 479, doi. 10.1002/ajmg.a.35761
    By:
    • D'Angelo, Carla Sustek;
    • Kohl, Ilana;
    • Varela, Monica Castro;
    • de Castro, Cláudia Irene Emílio;
    • Kim, Chong Ae;
    • Bertola, Débora Romeo;
    • Lourenço, Charles Marques;
    • Perez, Ana Beatriz Alvarez;
    • Koiffmann, Celia Priszkulnik
    Publication type:
    Article
    46

    Genetic investigation of patients with tall stature.

    Published in:
    European Journal of Endocrinology, 2020, v. 182, n. 2, p. 139, doi. 10.1530/EJE-19-0785
    By:
    • de Albuquerque Albuquerque, Edoarda Vasco;
    • de Assis Funari, Mariana Ferreira;
    • de Souza Quedas, Elisângela Pereira;
    • Kawahira, Rachel Sayuri Honjo;
    • Jallad, Raquel Soares;
    • Homma, Thaís Kataoka;
    • Martin, Regina Matsunaga;
    • Brito, Vinicius Nahime;
    • Malaquias, Alexsandra Christianne;
    • Lerario, Antonio Marcondes;
    • Rosenberg, Carla;
    • Krepischi, Ana Cristina Victorino;
    • Chong Ae Kim;
    • Arnhold, Ivo Jorge Prado;
    • de Lima Jorge, Alexander Augusto
    Publication type:
    Article
    47

    Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

    Published in:
    2022
    By:
    • Llerena Jr, Juan;
    • Kim, Chong Ae;
    • Fano, Virginia;
    • Rosselli, Pablo;
    • Collett-Solberg, Paulo Ferrez;
    • de Medeiros, Paula Frassinetti Vasconcelos;
    • del Pino, Mariana;
    • Bertola, Débora;
    • Lourenço, Charles Marques;
    • Cavalcanti, Denise Pontes;
    • Félix, Têmis Maria;
    • Rosa-Bellas, Antonio;
    • Rossi, Norma Teresa;
    • Cortes, Fanny;
    • Abreu, Flávia;
    • Cavalcanti, Nicolette;
    • Ruz, Maria Cecilia Hervias;
    • Baratela, Wagner;
    • Llerena, Juan Jr
    Publication type:
    journal article
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    Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.

    Published in:
    Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025
    By:
    • Sachiko Ohori;
    • Akihiko Miyauchi;
    • Hitoshi Osaka;
    • Lourenco, Charles Marques;
    • Naohiro Arakaki;
    • Toru Sengoku;
    • Kazuhiro Ogata;
    • Rachel Sayuri Honjo;
    • Chong Ae Kim;
    • Satomi Mitsuhashi;
    • Frith, Martin C.;
    • Rie Seyama;
    • Naomi Tsuchida;
    • Yuri Uchiyama;
    • Eriko Koshimizu;
    • Kohei Hamanaka;
    • Kazuharu Misawa;
    • Satoko Miyatake;
    • Takeshi Mizuguchi;
    • Kuniaki Saito
    Publication type:
    Article