Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

Authors: Pires, Lucas Vieira Lacerda, Ribeiro, Rogério Lemos, Sousa, Adriana Modesto de, Linnenkamp, Bianca Domit Werner, Pontes, Sue Ellen, Teixeira, Maria Cristina Triguero Veloz, Befi-Lopes, Debora Maria, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

Source: Arquivos de Neuro-Psiquiatria. November 2021 79(11)

Subject Terms: Williams Syndrome, Medical, Genetics, Behavior, Mental Disorders, Phenotype

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001100950

Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome

Authors: Furusawa, Erika Arai, Esposito, Camila Sanches Lanetzki, Honjo, Rachel Sayuri, Suzuki, Lisa, Leal, Gabriela Nunes, Kim, Chong Ae, Schvartsman, Benita Galassi Soares

Source: Revista da Associação Médica Brasileira. August 2018 64(8)

Subject Terms: children, hypertension, renal artery stenosis, Williams-Beuren syndrome

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302018000800723

Cognitive and behavioral profile of Williams Syndrome toddlers

Authors: Braga, Ana Claúdia, Carreiro, Luiz Renato Rodrigues, Tafla, Tally Lichtensztejn, Ranalli, Nadia Maria Giaretta, Silva, Maria Fernanda Costa e, Honjo, Rachel Sayuri, Kim, Chong Ae, Teixeira, Maria Cristina Triguero Veloz

Source: CoDAS. January 2018 30(4)

Subject Terms: Williams Syndrome, Toddlers, Development, Adaptive Behavior, Behavior Problems

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2317-17822018000400305

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia

Authors: Pegler, José Roberto Mendes, Soares, Diogo Cordeiro de Queiroz, Quaio, Caio Robledo D’Angioli Costa, Fernandes, Natalia, Oliveira, Luiz Antonio Nunes de, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

Source: Revista da Associação Médica Brasileira. June 2016 62(3)

Subject Terms: Goldenhar syndrome, facial asymmetry, craniofacial abnormalities

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302016000300202

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

Authors: Costa, Larissa Sampaio de Athayde, Pegler, Stephanie Pucci, Lellis, Rute Facchini, Krebs, Vera Lúcia Jornada, Robertson, Stephen, Morgan, Tim, Honjo, Rachel Sayuri, Bertola, Débora Romeo, Kim, Chong Ae

Source: Revista da Associação Médica Brasileira. October 2015 61(5)

Subject Terms: copper, ceruloplasmin, Menkes Kinky hair syndrome

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302015000500407

Estresse em crianças e adolescentes com Síndrome de Williams-Beuren em idade escolar

Authors: Amaral, Vera Alice Alcantara dos Santos, Nunes, Michele Moreira, Honjo, Rachel Sayuri, Dutra, Roberta Lelis, Assumpção Jr, Francisco Baptista, Kim, Chong Ae

Source: Psicologia Escolar e Educacional. June 2013 17(1)

Subject Terms: Síndrome de Williams-Beuren, stress, crianças e adolescentes

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1413-85572013000100011

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

Authors: Dutra, Roberta Lelis, Pieri, Patrícia de Campos, Teixeira, Ana Carolina Dias, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

Source: Clinics. January 2011 66(6)

Subject Terms: Williams-Beuren syndrome, microsatellite markers, parental origin, size deletion, molecular diagnosis

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011000600007

Parental Attitudes and Beliefs about Sexuality of Individuals with Intellectual Disability: Insights from a Brazilian Sample of Parents of Individuals with Williams Syndrome

Authors: Monteiro, Rebeca Orselli, Tafla, Tally Lichtensztejn (ORCID 0000-0002-8782-8905), Rodriguez, Juliana Dalla Martha (ORCID 0000-0002-3953-8882), Teixeira, Sabine Triguero (ORCID 0000-0001-7916-3731), Honjo, Rachel Sayuri (ORCID 0000-0002-9223-7341), Kim, Chong Ae (ORCID 0000-0002-1754-1300), Teixeira, Maria Cristina Triguero Veloz (ORCID 0000-0002-6096-8414)

Source: Journal of Applied Research in Intellectual Disabilities. 2023 36(6):1345-1353.

Peer Reviewed: Y

Page Count: 9

Descriptors: Sexuality, Genetic Disorders, Intellectual Disability, Parent Attitudes, Beliefs, Sex Education, Marriage, Parent Role

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

Authors: 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

Source: In Jornal de Pediatria May-June 2024 100(3):277-282

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

Authors: Imagawa, Eri, Seyama, Rie, Aoi, Hiromi, Uchiyama, Yuri, Marcarini, Bruno Guimaraes, Furquim, Isabel, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae, Matsumoto, Naomichi

Source: Clinical genetics. 103(4):383-391

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176805139.0x000001&indx=1&recIds=ETOCvdc_100176805139.0x000001

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion

Authors: 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

Source: In The Journal of Pediatrics January 2023 252:56-60

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Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases

Authors: 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

Source: American journal of medical genetics.Part A. 188(2):676-682

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138891173.0x000001&indx=1&recIds=ETOCvdc_100138891173.0x000001

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome

Authors: Seyama, Rie, Uchiyama, Yuri, Ceroni, José Ricard Magliocco, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel Sayuri, 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

Source: In Genomics September 2022 114(5)

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Authors: Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.

Source: In Human Genetics and Genomics Advances 13 January 2022 3(1)

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Authors: Stephan, Bruno de Oliveira, Quaio, Caio Robledo, Spolador, Gustavo Marquezani, de Paula, Ana Carolina, Curiati, Marco Antônio, Martins, Ana Maria, Leal, Gabriela Nunes, Tenorio, Artur, Finzi, Simone, Chimelo, Flavia Teixeira, Matas, Carla Gentile, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

Source: In Clinics January-December 2022 77

Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

Authors: Castro, Matheus Augusto Araújo, Santos, Juliana Heather Vedovato, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Hurst, Anna C., Chorich, Lynn P., Layman, Lawrence C., Kim, Chong Ae, Kim, Hyung‐Goo

Source: American journal of medical genetics.Part A. 185(12):3916-3923

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134459911.0x000001&indx=1&recIds=ETOCvdc_100134459911.0x000001

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

Authors: 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

Source: Clinical genetics. 100(5):615-623

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131839513.0x000001&indx=1&recIds=ETOCvdc_100131839513.0x000001

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

Authors: 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

Source: Human reproduction. 36(2):506-518

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128204583.0x000001&indx=1&recIds=ETOCvdc_100128204583.0x000001

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics

Authors: Honjo, Rachel Sayuri, Castro, Matheus Augusto Araújo, Ferraciolli, Suely Fazio, Soares Junior, Luiz Alberto Valente, Pastorino, Antonio Carlos, Bertola, Débora Romeo, Miyake, Noriko, Matsumoto, Naomichi, Kim, Chong Ae

Source: American journal of medical genetics.Part A. 185(5):1561-1568

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124073228.0x000001&indx=1&recIds=ETOCvdc_100124073228.0x000001