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1 |
Material Type: Dissertação de Mestrado
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Instabilidade craniocervical no espectro oculoauriculovertebralGomes, Luiz PauloBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Hospital de Reabilitação de Anomalias Craniofaciais 2022-07-05Acesso online |
2 |
Material Type: Artigo
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Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in EuropeBarisic, Ingeborg ; Odak, Ljubica ; Loane, Maria ; Garne, Ester ; Wellesley, Diana ; Calzolari, Elisa ; Dolk, Helen ; Addor, Marie-Claude ; Arriola, Larraitz ; Bergman, Jorieke ; Bianca, Sebastiano ; Doray, Berenice ; Khoshnood, Babak ; Klungsoyr, Kari ; McDonnell, Bob ; Pierini, Anna ; Rankin, Judith ; Rissmann, Anke ; Rounding, Catherine ; Queisser-Luft, Annette ; Scarano, Gioacchino ; Tucker, DavidEuropean journal of human genetics : EJHG, 2014-01, Vol.22 (8), p.1026-1033 [Periódico revisado por pares]Texto completo disponível |
3 |
Material Type: Artigo
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Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesisAdam, Aaron P. ; Curry, Cynthia J. ; Hall, Judith G. ; Keppler‐Noreuil, Kim M. ; Adam, Margaret P. ; Dobyns, William B.American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2646-2661 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
4 |
Material Type: Artigo
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Microtia: Epidemiology and geneticsLuquetti, Daniela V. ; Heike, Carrie L. ; Hing, Anne V. ; Cunningham, Michael L. ; Cox, Timothy C.American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.124-139 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
5 |
Material Type: Artigo
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Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic reviewGlaeser, Andressa Barreto ; Santos, Andressa Schneiders ; Diniz, Bruna Lixinski ; Deconte, Desireé ; Rosa, Rafael Fabiano Machado ; Zen, Paulo Ricardo GazzolaAmerican journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2624-2631 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
6 |
Material Type: Artigo
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Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrumParizotto, Julianna de Oliveira Lima ; Peixoto, Adriano Porto ; Borsato, Karina Tostes ; Bianchi, Jonas ; Vendramini Pittoli, Siulan ; Tonello, Cristiano ; Gonçalves, João RobertoOrthodontics & craniofacial research, 2021-11, Vol.24 (4), p.575-584 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
7 |
Material Type: Artigo
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Genomic imbalances in craniofacial microsomiaSpineli‐Silva, Samira ; Sgardioli, Ilária C. ; Santos, Ana P. ; Bergamini, Luna L. ; Monlleó, Isabella L. ; Fontes, Marshall I. B. ; Félix, Têmis M. ; Ribeiro, Erlane M. ; Xavier, Ana C. ; Lustosa‐Mendes, Elaine ; Gil‐da‐Silva‐Lopes, Vera L. ; Vieira, Tarsis P.American journal of medical genetics. Part C, Seminars in medical genetics, 2020-12, Vol.184 (4), p.970-985Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
8 |
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 |
9 |
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 |
10 |
Material Type: Artigo
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Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectFerese, Rosangela ; Bonetti, Monica ; Consoli, Federica ; Guida, Valentina ; Sarkozy, Anna ; Lepri, Francesca Romana ; Versacci, Paolo ; Gambardella, Stefano ; Calcagni, Giulio ; Margiotti, Katia ; Piceci Sparascio, Francesca ; Hozhabri, Hossein ; Mazza, Tommaso ; Digilio, Maria Cristina ; Dallapiccola, Bruno ; Tartaglia, Marco ; Marino, Bruno ; Hertog, Jeroen den ; Luca, AlessandroHuman mutation, 2018-10, Vol.39 (10), p.1428-1441 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |