Works by Ae Kim, Chong

Results: 81

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.;
Kim, Chong Ae;
Chong Ae Kim;
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

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

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1181, doi. 10.1007/s10803-022-05853-z

By:

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

Publication type:

Article

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

Published in:

Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2457, doi. 10.1111/j.1528-1167.2010.02742.x

By:

Krepischi, Ana Cristina Victorino;
Knijnenburg, Jeroen;
Bertola, Debora Romeo;
Chong Ae Kim;
Pearson, Peter Lees;
Bijlsma, Emilia;
Szuhai, Karoly;
Kok, Fernando;
Vianna-Morgante, Angela Maria;
Rosenberg, Carla

Publication type:

Article

Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.

Published in:

Sao Paulo Medical Journal, 2022, v. 140, n. 5, p. 734, doi. 10.1590/1516-3180.2022.0076.R1.21072022

By:

Costa Quaio, Caio Robledo D’Angioli;
Moreira, Caroline Monaco;
Hsiaoyun Chung, Christine;
Perazzio, Sandro Felix;
Pimenta Dutra, Aurelio;
Chong Ae Kim

Publication type:

Article

Brazilian growth charts for Williams Beuren Syndrome at ages 2 to 18 years.

Published in:

Jornal de Pediatria, 2024, v. 100, n. 3, p. 1, doi. 10.1016/j.jped.2023.11.009

By:

de Sousa Lima Strafacci, Amanda;
Bertapelli, Fabio;
Kim, Chong Ae;
Rivadeneira, Maria Jose;
Honjo, Rachel Sayuri;
Kulikowski, Leslie Domenici;
Ferreira, Danilo Moretti;
Batista, Letícia Cassimiro;
Lopes, Vera Lucia Gilda Silva;
Junior, Gil Guerra

Publication type:

Article

Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.

Published in:

International Journal of Dermatology, 2015, v. 54, n. 6, p. e241, doi. 10.1111/ijd.12713

By:

Kelmann, Samantha Vernaschi;
Quaio, Caio Robledo D'Angioli Costa;
Honjo, Rachel Sayuri;
Bertola, Debora Romeo;
Rosa Neto, Nilton Salles;
Lourenço, Charles Marques;
d'Almeida, Vânia;
Lellis, Rute Facchini;
Rivitti‐Machado, Maria Cecília;
Enokihara, Milvia Maria Simões e Silva;
Michalany, Nilceo S;
Kim, Chong Ae

Publication type:

Article

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03392-7

By:

de Oliveira, Bibiana Mello;
Bernardi, Filipe Andrade;
Baiochi, João Francisco;
Neiva, Mariane Barros;
Artifon, Milena;
Vergara, Alberto Andrade;
Martins, Ana Maria;
Grumach, Anete Sevciovic;
Acosta, Angelina Xavier;
Husny, Antonette Souto El;
de Freitas Rodrigues Ribeiro, Bethania;
Ramos, Camila Ferreira;
Steiner, Carlos Eduardo;
Kim, Chong Ae;
Christofolini, Denise Maria;
Yamada, Diego Bettiol;
Carvalho, Ellaine Doris Fernandes;
Ribeiro, Erlane Marques;
de Arruda Bastos, Fabíola;
Serpa, Faradiba Sarquis

Publication type:

Article

Corrigendum to “Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA”.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/568047

By:

Honjo, Rachel Sayuri;
Dutra, Roberta Lelis;
Furusawa, Erika Arai;
Zanardo, Evelin Aline;
Costa, Larissa Sampaio de Athayde;
Kulikowski, Leslie Domenici;
Bertola, Debora Romeo;
Kim, Chong Ae

Publication type:

Article

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/903175

By:

Honjo, Rachel Sayuri;
Dutra, Roberta Lelis;
Furusawa, Erika Arai;
Zanardo, Evelin Aline;
Costa, Larissa Sampaio de Athayde;
Kulikowski, Leslie Domenici;
Bertola, Debora Romeo;
Kim, Chong Ae

Publication type:

Article

Challenges in the Orthodontic Treatment of a Patient With Pycnodysostosis.

Published in:

Cleft Palate Craniofacial Journal, 2014, v. 51, n. 6, p. 735, doi. 10.1597/12-233

By:

Ortegosa, Márcio Vieira;
Bertola, Débora Romeo;
Aguena, Meire;
Passos-Bueno, Maria Rita;
Chong Ae Kim;
de Faria, Maria Estela Justamante

Publication type:

Article

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

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

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

Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.

Published in:

Molecular Biology Reports, 2022, v. 49, n. 5, p. 3911, doi. 10.1007/s11033-022-07241-3

By:

Quaio, Caio Robledo D' Angioli Costa;
Moreira, Caroline Monaco;
Chung, Christine Hsiaoyun;
Perazzio, Sandro Felix;
Dutra, Aurelio Pimenta;
Kim, Chong Ae

Publication type:

Article

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 93, doi. 10.1007/s00439-018-01967-6

By:

Dantas, Anelisa Gollo;
Nunes, Natalia;
Meloni, Vera Ayres;
Carvalheira, Gianna;
Melaragno, Maria Isabel;
Belangero, Sintia Nogueira;
Santoro, Marcos Leite;
de Mello, Claudia Berlim;
Pimenta, Larissa Salustiano Evangelista;
Soares, Diogo Cordeiro Queiroz;
Kim, Chong Ae

Publication type:

Article

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

Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2023, v. 36, n. 6, p. 1345, doi. 10.1111/jar.13155

By:

Monteiro, Rebeca Orselli;
Tafla, Tally Lichtensztejn;
Rodriguez, Juliana Dalla Martha;
Teixeira, Sabine Triguero;
Honjo, Rachel Sayuri;
Kim, Chong Ae;
Teixeira, Maria Cristina Triguero Veloz

Publication type:

Article

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0363-7

By:

D’Angelo, Carla Sustek;
Varela, Monica Castro;
de Castro, Claudia Irene Emílio;
Otto, Paulo Alberto;
Perez, Ana Beatriz Alvarez;
Lourenço, Charles Marques;
Kim, Chong Ae;
Bertola, Debora Romeo;
Kok, Fernando;
Garcia-Alonso, Luis;
Koiffmann, Celia Priszkulnik

Publication type:

Article

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

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1545, doi. 10.1002/ajmg.a.62651

By:

Ali, Taccyanna M.;
Linnenkamp, Bianca D. W.;
Yamamoto, Guilherme L.;
Honjo, Rachel S.;
Cabral de Menezes Filho, Hamilton;
Kim, Chong Ae;
Bertola, Débora R.

Publication type:

Article

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

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

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

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

Published in:

2019

By:

Ceroni, José Ricardo Magliocco;
Spolador, Gustavo Marquezani;
Bermeo, Diana Salazar;
Honjo, Rachel Sayuri;
de Oliveira, Luiz Antonio Nunes;
Bertola, Débora Romeo;
Kim, Chong Ae

Publication type:

journal article

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

Audiological profile and cochlear functionality in Williams syndrome.

Published in:

CoDAS, 2022, v. 34, n. 3, p. 1, doi. 10.1590/2317-1782/20212021041

By:

Fagundes Silva, Liliane Aparecida;
Honjo Kawahira, Rachel Sayuri;
Chong Ae Kim;
Gentile Matas, Carla

Publication type:

Article

Characteristics of auditory evaluation in Williams syndrome: a systematic review.

Published in:

CoDAS, 2018, v. 30, n. 5, p. 1, doi. 10.1590/2317-1782/20182017267

By:

Fagundes Silva, Liliane Aparecida;
Ae Kim, Chong;
Gentile Matas, Carla

Publication type:

Article

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

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

Published in:

European Journal of Medical Research, 2016, v. 21, p. 1, doi. 10.1186/s40001-016-0228-7

By:

Araujo, Thaís Fenz;
Ribeiro, Erlane Marques;
Arruda, Anderson Pontes;
Moreno, Carolina Araujo;
de Medeiros, Paula Frassinetti Vasconcelos;
Minillo, Renata Moldenhauer;
Melo, Débora Gusmão;
Chong Ae Kim;
Rodovalho Doriqui, Maria Juliana;
Felix, Têmis Maria;
Fock, Rodrigo Ambrosio;
Cavalcanti, Denise Pontes

Publication type:

Article

Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation.

Published in:

Clinical & Molecular Hepatology, 2019, v. 25, n. 1, p. 86, doi. 10.3350/cmh.2018.0005

By:

de Medeiros Bastos, Karina Lucio;
Quaio, Caio Robledo;
Lima, Fabiana Roberto;
Araújo, Iana Manuelle;
Tavares Araújo, Candice Alves;
Piazzon, Flávia Balbo;
da Silva, Ismael Dale Cotrim Guerreiro;
Benevides, Gabriel Nuncio;
Tannuri, Ana Cristina;
Tannuri, Uenis;
Azevedo, Ramiro Anthero;
Chong Ae Kim

Publication type:

Article

Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation.

Published in:

Clinical & Molecular Hepatology, 2019, v. 25, n. 1, p. 86, doi. 10.3350/cmh.2018.0005

By:

de Medeiros Bastos, Karina Lucio;
Robledo Quaio, Caio;
Roberto Lima, Fabiana;
Manuelle Araújo, Iana;
Tavares Araújo, Candice Alves;
Piazzon, Flávia Balbo;
da Silva, Ismael Dale Cotrim Guerreiro;
Nuncio Benevides, Gabriel;
Cristina Tannuri, Ana;
Tannuri, Uenis;
Anthero Azevedo, Ramiro;
Chong Ae Kim

Publication type:

Article

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 6, p. 521, doi. 10.1007/s10038-007-0146-1

By:

Bertola, Débora Romeo;
Pereira, Alexandre Costa;
Brasil, Amanda Salem;
Albano, Lilian Maria José;
Chong Ae Kim;
Krieger, José Eduardo

Publication type:

Article

Audiological Characterization of Individuals with Cornelia de Lange Syndrome.

Published in:

International Archives of Otorhinolaryngology, 2024, v. 28, n. 4, p. e626, doi. 10.1055/s-0044-1788001

By:

Santos, Nayara Pereira;
Silva, Liliane Aparecida Fagundes;
Neves-Lobo, Ivone Ferreira;
Kim, Chong Ae;
Matas, Carla Gentile

Publication type:

Article

Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 349, doi. 10.1002/ajmg.c.31915

By:

Josahkian, Juliana Alves;
Brusius‐Facchin, Ana Carolina;
Netto, Alice Brinckmann Oliveira;
Leistner‐Segal, Sandra;
Málaga, Diana Rojas;
Burin, Maira Graeff;
Michelin‐Tirelli, Kristiane;
Trapp, Franciele Barbosa;
Cardoso‐dos‐Santos, Augusto César;
Ribeiro, Erlane Marques;
Kim, Chong Ae;
de Siqueira, Ana Cecília Menezes;
Santos, Mara Lucia;
do Valle, Daniel Almeida;
da Silva, Raquel Tavares Boy;
Horovitz, Dafne Dain Gandelman;
de Medeiros, Paula Frassinetti Vasconcelos;
de Souza, Carolina Fischinger Moura;
Giuliani, Liane de Rosso;
Miguel, Diego Santana Chaves Geraldo

Publication type:

Article

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.

Published in:

2021

By:

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

Publication type:

journal article

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8648, doi. 10.3390/ijms25168648

By:

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

Publication type:

Article

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 165, doi. 10.1159/000540570

By:

Pires, Lucas Vieira Lacerda;
Da Cás, Eduardo;
de Melo, Letícia Cole;
Nakaie, Cleyde Mirian Aversa;
Aiello, Vera Dermachi;
Yamamoto, Guilherme Lopes;
Honjo, Rachel Sayuri;
Kim, Chong Ae;
Bertola, Débora Romeo

Publication type:

Article

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 87, doi. 10.1159/000407418

By:

Hatagami Marques, Júlia;
Lopes Yamamoto, Guilherme;
de Cássia Testai, Larissa;
da Costa Pereira, Alexandre;
Kim, Chong Ae;
Passos-Bueno, Maria R.;
Romeo Bertola, Débora

Publication type:

Article

Split Hand‐Foot Malformations—Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Published in:

Clinical Genetics, 2025, v. 107, n. 4, p. 453, doi. 10.1111/cge.14666

By:

Cás, Eduardo Da;
Ceroni, José Ricardo Magliocco;
Yamamoto, Guilherme Lopes;
Castro, Matheus Augusto Araújo;
Bisneto, Edgard França;
Jorge, Alexander Augusto de Lima;
Filho, Joao Bosco Oliveira;
Kim, Chong Ae;
Krepischi, Ana Cristina Vitorino;
Bertola, Débora Romeo

Publication type:

Article

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

Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 476, doi. 10.1111/cge.14118

By:

Linnenkamp, Bianca;
Girardi, Raissa;
Rocha, Letícia;
Yamamoto, Guilherme;
Ceroni, José Ricardo;
Mendes, Antonia Elisabeth Cristhina;
Honjo, Rachel;
Oliveira, Luiz Antônio;
Amemiya, Raphael Bruno;
Quaio, Caio;
de Oliveira Filho, João Bosco;
Kim, Chong Ae;
Bertola, Débora

Publication type:

Article

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

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

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in‐frame deletion.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 607, doi. 10.1111/cge.13909

By:

Miyake, Noriko;
Oliveira Stephan, Bruno;
Kim, Chong Ae;
Matsumoto, Naomichi

Publication type:

Article

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 122, doi. 10.1038/ejhg.2011.125

By:

Gray, Mary J;
Kim, Chong Ae;
Bertola, Debora Romeo;
Arantes, Paula Ricci;
Stewart, Helen;
Simpson, Michael A;
Irving, Melita D;
Robertson, Stephen P

Publication type:

Article

Alterações comportamentais na Síndrome de Noonan: dados preliminares brasileiros.

Published in:

Revista Latinoamericana de Psicología, 2010, v. 42, n. 1, p. 87

By:

Mota, Érica Regina;
Bertola, Débora Romeo;
Chong Ae Kim;
Teixeira, Maria Cristina Triguero Veloz

Publication type:

Article

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Published in:

Molecular Neurobiology, 2024, v. 61, n. 8, p. 5230, doi. 10.1007/s12035-023-03894-8

By:

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

Publication type:

Article

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

Associations between fetal testosterone and pro–social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary study.

Published in:

International Journal of Developmental Disabilities, 2019, v. 65, n. 2, p. 82, doi. 10.1080/20473869.2017.1376163

By:

Osório, Ana Alexandra Caldas;
do Egito, Júlia Horta Tabosa;
Martins, Gabriela Carneiro;
Kim, Chong Ae;
Honjo, Rachel Sayuri;
Sampaio, Adriana da Conceição Soares;
Mesquita, Ana Raquel Marcelino;
Macedo, Elizeu Coutinho;
Boggio, Paulo Sérgio;
Teixeira, Maria Cristina Triguero Veloz

Publication type:

Article