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Material Type: Artigo
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Oculo-auriculo-vertebral spectrum: a review of the literature and genetic updateBeleza-Meireles, Ana ; Clayton-Smith, Jill ; Saraiva, Jorge M ; Tassabehji, MayJournal of Medical Genetics, 2014-10, Vol.51 (10), p.635-645 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Etiology and Pathogenesis of Hemifacial MicrosomiaChen, Q. ; Zhao, Y. ; Shen, G. ; Dai, J.Journal of Dental Research, 2018-11, Vol.97 (12), p.1297-1305 [Periódico revisado por pares]Los Angeles, CA: SAGE PublicationsTexto completo disponível |
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Material Type: Artigo
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Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex diseaseTingaud-Sequeira, Angèle ; Trimouille, Aurélien ; Sagardoy, Thomas ; Lacombe, Didier ; Rooryck, CarolineJournal of medical genetics, 2022-05, Vol.59 (5), p.417-427 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Clinical and cytogenomic findings in OAV spectrumBragagnolo, Silvia ; Colovati, Mileny E. S. ; Souza, Malu Z. ; Dantas, Anelise G. ; Soares, Maria F. ; Melaragno, Maria I. ; Perez, Ana B.American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.638-648 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosisXu, Xiaopeng ; Wang, Bingqing ; Jiang, Zhuoyuan ; Chen, Qi ; Mao, Ke ; Shi, Xiaofeng ; Yan, Chun ; Hu, Jintian ; Zha, Yan ; Ma, Chao ; Zhang, Jiao ; Guo, Rui ; Wang, Liguo ; Zhao, Shouqin ; Liu, Huisheng ; Zhang, Qingguo ; Zhang, Yong-BiaoHuman molecular genetics, 2021-05, Vol.30 (11), p.1045-1056 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial MicrosomiaSong, Wenjie ; Xia, Xin ; Fan, Yue ; Zhang, Bo ; Chen, XiaoweiInternational journal of molecular sciences, 2024-05, Vol.25 (9), p.4707 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanismsZamariolli, Malú ; Burssed, Bruna ; Moysés‐Oliveira, Mariana ; Colovati, Mileny ; Bellucco, Fernanda Teixeira da Silva ; Santos, Leonardo Caires ; Alvarez Perez, Ana Beatriz ; Bragagnolo, Silvia ; Melaragno, Maria IsabelAmerican journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2056-2064 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defectsGuida, Valentina ; Sparascio, Francesca Piceci ; Bernardini, Laura ; Pancheri, Francesco ; Melis, Daniela ; Cocciadiferro, Dario ; Pagnoni, Mario ; Puzzo, Marianna ; Goldoni, Marina ; Barone, Chiara ; Hozhabri, Hossein ; Putotto, Carolina ; Giuffrida, Maria Grazia ; Briuglia, Silvana ; Palumbo, Orazio ; Bianca, Sebastiano ; Stanzial, Franco ; Benedicenti, Francesco ; Kariminejad, Ariana ; Forzano, Francesca ; Baghernajad Salehi, Leila ; Mattina, Teresa ; Brancati, Francesco ; Castori, Marco ; Carella, Massimo ; Fadda, Maria Teresa ; Iannetti, Giorgio ; Dallapiccola, Bruno ; Digilio, Maria Cristina ; Marino, Bruno ; Tartaglia, Marco ; De Luca, AlessandroClinical genetics, 2021-09, Vol.100 (3), p.268-279 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Maxillofacial features and systemic malformations in expanded spectrum Hemifacial MicrosomiaCohen, Noah ; Cohen, Erica ; Gaiero, Alberto ; Zecca, Silvia ; Fichera, Graziella ; Baldi, Federica ; Giordanetto, Joseph Felix ; Mercier, Jacques Marie ; Cohen, AmnonAmerican journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1208-1218 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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10 |
Material Type: Artigo
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Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patientsBeleza-Meireles, Ana ; Hart, Rachel ; Clayton-Smith, Jill ; Oliveira, Renata ; Reis, Cláudia Falcão ; Venâncio, Margarida ; Ramos, Fabiana ; Sá, Joaquim ; Ramos, Lina ; Cunha, Elizabete ; Pires, Luís Miguel ; Carreira, Isabel Marques ; Scholey, Rachel ; Wright, Ronnie ; Urquhart, Jill E ; Briggs, Tracy A ; Kerr, Bronwyn ; Kingston, Helen ; Metcalfe, Kay ; Donnai, Dian ; Newman, William G ; Saraiva, Jorge Manuel ; Tassabehji, MayEuropean journal of medical genetics, 2015-09, Vol.58 (9), p.455-465 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |