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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 |
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Genetic disorders associated with postnatal microcephalySeltzer, Laurie E. ; Paciorkowski, Alex R.American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.140-155United States: Blackwell Publishing LtdTexto completo disponível |
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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 |
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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 |
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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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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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Syndromes of the first and second pharyngeal arches: A reviewPassos-Bueno, Maria Rita ; Ornelas, Camila C. ; Fanganiello, Roberto D.American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1853-1859 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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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 |
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Identification of a de novo PUF60 variant associated with craniofacial microsomiaOgawa, Takuya ; Xue, Jingyi ; Guo, Long ; Inoue-Arai, Maristela Sayuri ; Vendramini-Pittoli, Siulan ; Zechi-Ceide, Roseli Maria ; Candido-Souza, Rosana Maria ; Tonello, Cristiano ; Brandão, Michele Madeira ; Ozawa, Terumi Okada ; Peixoto, Adriano Porto ; Ruiz, Daniela Maria Cury Ferreira ; Nakashima, Tomoki ; Ikegawa, Shiro ; Moriyama, Keiji ; Kokitsu-Nakata, Nancy MizueAmerican journal of medical genetics. Part A, 2024-04, p.e63631 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019Thomas, Mary Ann ; Bedard, Tanya ; Crawford, Susan ; Lowry, R BrianAmerican journal of medical genetics. Part A, 2024-03, p.e63594-e63594 [Periódico revisado por pares]United StatesTexto completo disponível |