Daniela V Luquetti
Affiliation: University of Washington
- Interrater reliability of a phenotypic assessment tool for the ear morphology in microtiaDaniela V Luquetti
Department of Pediatrics, University of Washington, and Craniofacial Center, Seattle Children s Hospital, Seattle, Washington 98101, USA
Am J Med Genet A 161:1264-72. 2013..We incorporated these descriptions into a standardized phenotypic assessment tool (PAT-Microtia) that might be used in multicenter research studies to identify sub-phenotypes for future studies of microtia...
- Microtia-anotia: a global review of prevalence ratesDaniela Varela Luquetti
Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, USA
Birth Defects Res A Clin Mol Teratol 91:813-22. 2011..There are few published studies on microtia-anotia frequency...
- Microtia: epidemiology and geneticsDaniela V Luquetti
Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA
Am J Med Genet A 158:124-39. 2012..We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude...
- "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotypeDaniela V Luquetti
Department of Pediatrics, University of Washington, Seattle, WA, USA
Am J Med Genet A 161:108-13. 2013..The absence of microcephaly in one patient indicates that it is a highly variable phenotypic feature...
- A phenotypic assessment tool for craniofacial microsomiaCraig B Birgfeld
Division of Plastic Surgery, Department of Surgery, University of Washington, Seattle Children s Hospital, Seattle, Wash 98105, USA
Plast Reconstr Surg 127:313-20. 2011..Standardized description of the craniofacial malformations associated with craniofacial microsomia is a necessary first step for multicenter, interdisciplinary research into this complex condition...
- Evaluation of ICD-9-CM codes for craniofacial microsomiaDaniela V Luquetti
Seattle Children s Hospital, Craniofacial Center, Seattle, Washington 98101, USA
Birth Defects Res A Clin Mol Teratol 94:990-5. 2012..Our aim was to evaluate the validity of existing ICD-9-CM codes to identify individuals with CFM...
- Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformationLely A Quina
Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, WA 98101, USA
Dis Model Mech 5:812-22. 2012..Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear malformation, most cases of which remain unexplained...
- Preferential associated anomalies in 818 cases of microtia in South americaDaniela V Luquetti
Division of Craniofacial Medicine, Department of Pediatrics, University of Washington and Center for Tissue and Cell Sciences, Seattle Children s Research Institute, Seattle, Washington
Am J Med Genet A 161:1051-7. 2013..Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia. © 2013 Wiley Periodicals, Inc...