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Metadados | Descrição | Idioma |
---|---|---|
Autor(es): dc.contributor | The National Institutes of Health | - |
Autor(es): dc.contributor | FDNA Inc. | - |
Autor(es): dc.contributor | College of Health Sciences | - |
Autor(es): dc.contributor | All India Institute of Medical Sciences | - |
Autor(es): dc.contributor | Hospital de Pediatría Garrahan | - |
Autor(es): dc.contributor | National Research Centre | - |
Autor(es): dc.contributor | Hong Kong Special Administrative Region | - |
Autor(es): dc.contributor | Universidade Estadual Paulista (Unesp) | - |
Autor(es): dc.contributor | Hospital San Juan de Dios (CCSS) | - |
Autor(es): dc.contributor | National Children's Hospital Dr. Carlos Sáenz Herrera (CCSS) | - |
Autor(es): dc.contributor | University of California San Francisco | - |
Autor(es): dc.contributor | Children's Hospital of The King's Daughters | - |
Autor(es): dc.contributor | University of Nebraska Medical Center | - |
Autor(es): dc.contributor | University of Rwanda | - |
Autor(es): dc.contributor | Greenwood Genetic Center | - |
Autor(es): dc.contributor | Nigerian Air Force | - |
Autor(es): dc.contributor | School of Dentistry | - |
Autor(es): dc.contributor | University of Colombo | - |
Autor(es): dc.contributor | Kapi'olani Medical Center and University of Hawai'i | - |
Autor(es): dc.contributor | Federico II University | - |
Autor(es): dc.contributor | Telethon Institute of Genetics and Medicine (TIGEM) | - |
Autor(es): dc.contributor | University of Cape Town | - |
Autor(es): dc.contributor | Instituto de Medicina Genética | - |
Autor(es): dc.contributor | University of Malaya | - |
Autor(es): dc.contributor | University of Lagos | - |
Autor(es): dc.contributor | American College of Medical Genetics and Genomics | - |
Autor(es): dc.creator | Tekendo-Ngongang, Cedrik | - |
Autor(es): dc.creator | Owosela, Babajide | - |
Autor(es): dc.creator | Fleischer, Nicole | - |
Autor(es): dc.creator | Addissie, Yonit A. | - |
Autor(es): dc.creator | Malonga, Bryan | - |
Autor(es): dc.creator | Badoe, Ebenezer | - |
Autor(es): dc.creator | Gupta, Neerja | - |
Autor(es): dc.creator | Moresco, Angélica | - |
Autor(es): dc.creator | Huckstadt, Victoria | - |
Autor(es): dc.creator | Ashaat, Engy A. | - |
Autor(es): dc.creator | Hussen, Dalia Farouk | - |
Autor(es): dc.creator | Luk, Ho-Ming | - |
Autor(es): dc.creator | Lo, Ivan F. M. | - |
Autor(es): dc.creator | Hon-Yin Chung, Brian | - |
Autor(es): dc.creator | Fung, Jasmine L. F. | - |
Autor(es): dc.creator | Moretti-Ferreira, Danilo [UNESP] | - |
Autor(es): dc.creator | Batista, Letícia Cassimiro [UNESP] | - |
Autor(es): dc.creator | Lotz-Esquivel, Stephanie | - |
Autor(es): dc.creator | Saborio-Rocafort, Manuel | - |
Autor(es): dc.creator | Badilla-Porras, Ramses | - |
Autor(es): dc.creator | Penon Portmann, Monica | - |
Autor(es): dc.creator | Jones, Kelly L. | - |
Autor(es): dc.creator | Abdul-Rahman, Omar A. | - |
Autor(es): dc.creator | Uwineza, Annette | - |
Autor(es): dc.creator | Prijoles, Eloise J. | - |
Autor(es): dc.creator | Ifeorah, Ifeanyi Kanayo | - |
Autor(es): dc.creator | Llamos Paneque, Arianne | - |
Autor(es): dc.creator | Sirisena, Nirmala D. | - |
Autor(es): dc.creator | Dowsett, Leah | - |
Autor(es): dc.creator | Lee, Sansan | - |
Autor(es): dc.creator | Cappuccio, Gerarda | - |
Autor(es): dc.creator | Kitchin, Carolyn Sian | - |
Autor(es): dc.creator | Diaz-Kuan, Alicia | - |
Autor(es): dc.creator | Thong, Meow-Keong | - |
Autor(es): dc.creator | Obregon, María Gabriela | - |
Autor(es): dc.creator | Mutesa, Leon | - |
Autor(es): dc.creator | Dissanayake, Vajira H. W. | - |
Autor(es): dc.creator | El Ruby, Mona O. | - |
Autor(es): dc.creator | Brunetti-Pierri, Nicola | - |
Autor(es): dc.creator | Ekure, Ekanem Nsikak | - |
Autor(es): dc.creator | Stevenson, Roger E. | - |
Autor(es): dc.creator | Muenke, Maximilian | - |
Autor(es): dc.creator | Kruszka, Paul | - |
Data de aceite: dc.date.accessioned | 2022-02-22T00:43:46Z | - |
Data de disponibilização: dc.date.available | 2022-02-22T00:43:46Z | - |
Data de envio: dc.date.issued | 2021-06-25 | - |
Data de envio: dc.date.issued | 2021-06-25 | - |
Data de envio: dc.date.issued | 2020-11-30 | - |
Fonte completa do material: dc.identifier | http://dx.doi.org/10.1002/ajmg.a.61888 | - |
Fonte completa do material: dc.identifier | http://hdl.handle.net/11449/205219 | - |
Fonte: dc.identifier.uri | http://educapes.capes.gov.br/handle/11449/205219 | - |
Descrição: dc.description | Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p <.001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p =.145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations. | - |
Descrição: dc.description | National Human Genome Research Institute | - |
Descrição: dc.description | Medical Genetics Branch National Human Genome Research Institute The National Institutes of Health | - |
Descrição: dc.description | FDNA Inc. | - |
Descrição: dc.description | Department of Child Health School of Medicine and Dentistry College of Health Sciences | - |
Descrição: dc.description | Division of Genetics Department of Pediatrics All India Institute of Medical Sciences | - |
Descrição: dc.description | Servicio de Genética Hospital de Pediatría Garrahan | - |
Descrição: dc.description | Clinical Genetics Department Human Genetics and Genome Research Division National Research Centre | - |
Descrição: dc.description | Cytogenetic Department Human Genetics and Genome Research Division National Research Centre | - |
Descrição: dc.description | Department of Health Clinical Genetic Service Hong Kong Special Administrative Region | - |
Descrição: dc.description | Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region | - |
Descrição: dc.description | Department of Genetics Institute of Biosciences Sao Paulo State University-UNESP | - |
Descrição: dc.description | Rare and Orphan Disease Multidisciplinary Clinic Hospital San Juan de Dios (CCSS) | - |
Descrição: dc.description | Medical Genetics and Metabolism Department National Children's Hospital Dr. Carlos Sáenz Herrera (CCSS) | - |
Descrição: dc.description | Division of Medical Genetics Department of Pediatrics & Institute for Human Genetics University of California San Francisco | - |
Descrição: dc.description | Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters | - |
Descrição: dc.description | Munroe-Meyer institute for Genetics and Rehabilitation University of Nebraska Medical Center | - |
Descrição: dc.description | Centre for Human Genetics School of Medicine and Pharmacy College of Medicine and Health Sciences University of Rwanda | - |
Descrição: dc.description | Greenwood Genetic Center | - |
Descrição: dc.description | Nigerian Air Force Hospital Nigerian Air Force | - |
Descrição: dc.description | Medical Genetics Service Specialty Hospital of the Armed Forces No. 1 International University of Ecuador Sciences of Life Faculty School of Dentistry | - |
Descrição: dc.description | Human Genetics Unit Faculty of Medicine University of Colombo | - |
Descrição: dc.description | Kapi'olani Medical Center and University of Hawai'i | - |
Descrição: dc.description | Department of Translational Medicine Section of Pediatrics Federico II University | - |
Descrição: dc.description | Telethon Institute of Genetics and Medicine (TIGEM) | - |
Descrição: dc.description | Division of Human Genetics Faculty of Health Sciences University of Cape Town | - |
Descrição: dc.description | Instituto de Medicina Genética | - |
Descrição: dc.description | Department of Paediatrics Faculty of Medicine University of Malaya | - |
Descrição: dc.description | Department of Paediatrics College of Medicine University of Lagos | - |
Descrição: dc.description | American College of Medical Genetics and Genomics | - |
Descrição: dc.description | Department of Genetics Institute of Biosciences Sao Paulo State University-UNESP | - |
Formato: dc.format | 2939-2950 | - |
Idioma: dc.language | en | - |
Relação: dc.relation | American Journal of Medical Genetics, Part A | - |
???dc.source???: dc.source | Scopus | - |
Palavras-chave: dc.subject | Africa | - |
Palavras-chave: dc.subject | Asia | - |
Palavras-chave: dc.subject | facial analysis technology | - |
Palavras-chave: dc.subject | Latin America | - |
Palavras-chave: dc.subject | Middle East | - |
Palavras-chave: dc.subject | Rubinstein–Taybi syndrome | - |
Título: dc.title | Rubinstein–Taybi syndrome in diverse populations | - |
Tipo de arquivo: dc.type | livro digital | - |
Aparece nas coleções: | Repositório Institucional - Unesp |
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