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Molecular Syndromology|August 7, 2025
Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual DisabilityRoseli Maria Zechi-Ceide, Henrique Regonaschi Serigatto, Ana Laura Galvanin, et al.European Journal of Medical Genetics|February 16, 2008
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosisRoseli Maria Zechi-Ceide, Nélio Alessando Jesus Oliveira, Maria Leine Guion-Almeida, et al.American Journal of Medical Genetics. Part A|January 29, 2011
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian casesFrancine Pinheiro Favaro, Roseli Maria Zechi-Ceide, Camila Wenceslau Alvarez, et al.The Journal of Craniofacial Surgery|June 5, 2018
Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira SyndromeRayane de Oliveira Pinto, Adriano Porto Peixoto, Ary Dos Santos Pinto, et al.American Journal of Medical Genetics. Part A|June 7, 2023
Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature reviewHenrique Regonaschi Serigatto, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|March 30, 2026
Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?Henrique Regonaschi Serigatto, Siulan Vendramini-Pittoli, Priscila Padilha Moura, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|January 9, 2025
Multidisciplinary Oral Rehabilitation of Complex Frontonasal Dysplasia: A Case ReportRoberta Costa E Silva, Cristiano Tonello, José Carlos da Cunha Bastos, et al.Journal of Pediatric Genetics|August 9, 2020
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2Siulan Vendramini-Pittoli, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, et al.American Journal of Medical Genetics. Part A|April 9, 2026
Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and AutismRoseli Maria Zechi-Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini-Pittoli, et al.American Journal of Medical Genetics. Part A|April 22, 2024
Identification of a de novo PUF60 variant associated with craniofacial microsomiaTakuya Ogawa, Jingyi Xue, Long Guo, et al.Pageof 4