Daniela V Luquetti
Affiliation: University of Washington
- 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, WA, USA
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...
- 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...
- "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...
- 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...
- Risk factors and demographics for microtia in South America: a case-control analysisDaniela V Luquetti
Seattle Children s Hospital, Craniofacial Center, Seattle, Washington University of Washington, Department of Pediatrics, Seattle, Washington
Birth Defects Res A Clin Mol Teratol 97:736-43. 2013..The etiopathogenesis of microtia is still unknown in the majority of the cases, particularly for individuals presenting with isolated microtia. Our aim was to evaluate potential risk factors for this condition using a case-control approach...
- 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...
- 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...
- 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...
- The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia researchTimothy C Cox
Center for Developmental Biology and Regenerative Medicine, Seattle Children s Research Institute, Seattle, WA, USA Department of Pediatrics Craniofacial Medicine, University of Washington, Seattle, WA, USA Department of Oral Health Sciences, University of Washington, Seattle, WA, USA Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria, Australia Electronic address
Eur J Med Genet 57:394-401. 2014..These findings, together with the application of new genome-level sequencing technologies and more thorough quantitative assessment of available mutant mouse resources, promise an exciting future for genetic studies in microtia. ..