Daniela V Luquetti

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Preferential associated anomalies in 818 cases of microtia in South America
    Daniela 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
  2. pmc Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia
    Daniela 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
  3. pmc "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype
    Daniela V Luquetti
    Department of Pediatrics, University of Washington, Seattle, WA, USA
    Am J Med Genet A 161:108-13. 2013
  4. pmc Microtia-anotia: a global review of prevalence rates
    Daniela 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
  5. pmc Microtia: epidemiology and genetics
    Daniela V Luquetti
    Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Am J Med Genet A 158:124-39. 2012
  6. doi request reprint Phenotypic sub-grouping in microtia using a statistical and a clinical approach
    Daniela V Luquetti
    Department of Pediatrics, University of Washington, Seattle, Washington Craniofacial Center, Seattle Children s Hospital, Seattle, Washington Center of Developmental Biology and Regenerative Medicine, Seattle Children s Research Institute, Seattle, Washington
    Am J Med Genet A 167:688-94. 2015
  7. pmc Risk factors and demographics for microtia in South America: a case-control analysis
    Daniela 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
  8. pmc Evaluation of ICD-9-CM codes for craniofacial microsomia
    Daniela V Luquetti
    Seattle Children s Hospital, Craniofacial Center, Seattle, Washington 98101, USA
    Birth Defects Res A Clin Mol Teratol 94:990-5. 2012
  9. doi request reprint A phenotypic assessment tool for craniofacial microsomia
    Craig 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
  10. pmc Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation
    Lely A Quina
    Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, WA 98101, USA
    Dis Model Mech 5:812-22. 2012

Collaborators

Detail Information

Publications11

  1. pmc Preferential associated anomalies in 818 cases of microtia in South America
    Daniela 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...
  2. pmc Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia
    Daniela 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...
  3. pmc "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype
    Daniela 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...
  4. pmc Microtia-anotia: a global review of prevalence rates
    Daniela 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...
  5. pmc Microtia: epidemiology and genetics
    Daniela 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...
  6. doi request reprint Phenotypic sub-grouping in microtia using a statistical and a clinical approach
    Daniela V Luquetti
    Department of Pediatrics, University of Washington, Seattle, Washington Craniofacial Center, Seattle Children s Hospital, Seattle, Washington Center of Developmental Biology and Regenerative Medicine, Seattle Children s Research Institute, Seattle, Washington
    Am J Med Genet A 167:688-94. 2015
    ..The results will help inform investigations on etiology. © 2015 Wiley Periodicals, Inc. ..
  7. pmc Risk factors and demographics for microtia in South America: a case-control analysis
    Daniela 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...
  8. pmc Evaluation of ICD-9-CM codes for craniofacial microsomia
    Daniela 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...
  9. doi request reprint A phenotypic assessment tool for craniofacial microsomia
    Craig 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...
  10. pmc Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation
    Lely 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...
  11. pmc The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research
    Timothy 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. ..