C A Gurnett

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. pmc Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype
    Tracy L McGregor
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    BMC Med Genet 12:92. 2011
  2. pmc Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 19:1165-73. 2010
  3. pmc Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q
    Christina A Gurnett
    Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO 63110, USA
    Spine (Phila Pa 1976) 34:E94-100. 2009
  4. pmc Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation
    Christina A Gurnett
    Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO 63119, USA
    Am J Hum Genet 83:616-22. 2008
  5. doi request reprint Impact of congenital talipes equinovarus etiology on treatment outcomes
    Christina A Gurnett
    Department of Orthopedic Surgery, Washington University School of Medicine, One Children s Place, St Louis, MO 63110, U S A
    Dev Med Child Neurol 50:498-502. 2008
  6. doi request reprint Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 S Euclid Ave, St Louis, Missouri 63110, USA
    Arch Neurol 65:550-3. 2008
  7. ncbi request reprint New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation
    Christina A Gurnett
    Department of Neurology, 660 S Euclid Ave, Box 8111, Washington University School of Medicine, St Louis, MO 63110, USA
    Arch Neurol 64:324-8. 2007
  8. ncbi request reprint Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Clin Orthop Relat Res 462:27-31. 2007
  9. pmc Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Clin Orthop Relat Res 467:1195-200. 2009
  10. ncbi request reprint Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Med Genet A 140:1744-8. 2006

Collaborators

Detail Information

Publications28

  1. pmc Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype
    Tracy L McGregor
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    BMC Med Genet 12:92. 2011
    ..We hypothesized that common polymorphisms in the five human lysyl oxidase genes (LOX, LOXL1, LOXL2, LOXL3, and LOXL4) may be associated with the phenotype of adolescent idiopathic scoliosis...
  2. pmc Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 19:1165-73. 2010
    ..These findings reveal that the MYBPC1 is a novel gene responsible for DA1, though the mechanism of disease may differ from how some cardiac MYBPC3 mutations cause hypertrophic cardiomyopathy...
  3. pmc Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q
    Christina A Gurnett
    Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO 63110, USA
    Spine (Phila Pa 1976) 34:E94-100. 2009
    ..A single large family, in which adolescent idiopathic scoliosis (AIS) and pectus excavatum (PE) segregate as an autosomal dominant condition, was evaluated. Genome-wide linkage analysis and candidate gene sequencing were performed...
  4. pmc Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation
    Christina A Gurnett
    Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO 63119, USA
    Am J Hum Genet 83:616-22. 2008
    ..Implication of a gene involved in early limb development in clubfoot pathogenesis also suggests additional pathways for future investigations of idiopathic clubfoot etiology in humans...
  5. doi request reprint Impact of congenital talipes equinovarus etiology on treatment outcomes
    Christina A Gurnett
    Department of Orthopedic Surgery, Washington University School of Medicine, One Children s Place, St Louis, MO 63110, U S A
    Dev Med Child Neurol 50:498-502. 2008
    ..Non-idiopathic CTEV can be successfully treated with the Ponseti method of serial casting, with low recurrence rates or need for surgery...
  6. doi request reprint Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 S Euclid Ave, St Louis, Missouri 63110, USA
    Arch Neurol 65:550-3. 2008
    ..To determine gene(s) disrupted in a patient with partial frontal lobe epilepsy and cognitive impairment with concomitant de novo balanced chromosomal translocation t(2;13)(q24;q31)...
  7. ncbi request reprint New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation
    Christina A Gurnett
    Department of Neurology, 660 S Euclid Ave, Box 8111, Washington University School of Medicine, St Louis, MO 63110, USA
    Arch Neurol 64:324-8. 2007
    ..This review will describe several novel epilepsy genes and will then discuss other genetic causes of epilepsy, including alterations of chromosomal copy number and gene regulatory elements...
  8. ncbi request reprint Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Clin Orthop Relat Res 462:27-31. 2007
    ..We found no evidence of linkage near the HOXD gene cluster on chromosome 2q, suggesting genes other than HOXD10 are responsible for idiopathic clubfoot...
  9. pmc Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Clin Orthop Relat Res 467:1195-200. 2009
    ..The TNNT3 R63H recurrent mutation identified in two unrelated individuals may be associated with either DA1 or DA2B...
  10. ncbi request reprint Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Med Genet A 140:1744-8. 2006
    ..Our data indicate further genetic heterogeneity for ectrodactyly and suggest the presence of an additional SHFM locus in chromosome region 8q21.11-q22.3...
  11. ncbi request reprint HOXD10 M319K mutation in a family with isolated congenital vertical talus
    Matthew B Dobbs
    Department of Orthopedic Surgery, Washington University School of Medicine, One Child Place, Suite 45 Saint Louis, Missouri 63110, USA
    J Orthop Res 24:448-53. 2006
    ....
  12. pmc Update on clubfoot: etiology and treatment
    Matthew B Dobbs
    Department of Orthopaedic Surgery, Washington University School of Medicine, One Children s Place, Suite 4S60, St Louis, MO 63110, USA
    Clin Orthop Relat Res 467:1146-53. 2009
    ..Avoidance of extensive soft-tissue release operations in the primary treatment should be a priority, and the use of surgery for clubfoot correction should be limited to an "a la carte" mode and only after failed conservative methods...
  13. pmc Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation
    Matthew B Dobbs
    Department of Orthopaedic Surgery, Washington University School of Medicine, One Children s Place, Suite 4S20, St Louis, MO 63110, USA
    Clin Orthop Relat Res 466:1503-9. 2008
    ..Longer followup is needed to ensure maintenance of correction and to avoid the need for more extensive surgery, which has been the traditional treatment for congenital knee dislocation associated with Larsen syndrome...
  14. doi request reprint Pilocytic astrocytoma in a child with Noonan syndrome
    Laura G Schuettpelz
    Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri 63110, USA
    Pediatr Blood Cancer 53:1147-9. 2009
    ..We report here a patient with PTPN11 mutation-associated NS and a pilocytic astrocytoma...
  15. pmc Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effect
    Lisa M Kruse
    Department of Orthopaedic Surgery, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8111, St Louis, MO 63110, USA
    J Bone Joint Surg Am 90:2688-94. 2008
    ..This phenomenon is known as the Carter effect, and the presence of such an effect supports a multifactorial threshold model of inheritance...
  16. ncbi request reprint Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation
    Matthew B Dobbs
    Department of Orthopedic Surgery, Washington University School of Medicine, One Children s Place, Suite 4S20, St Louis, MO 63110, USA
    J Orthop Res 23:1490-4. 2005
    ..However, mutations in CDMP-1 do not appear to be a frequent cause of isolated congenital vertical talus...
  17. pmc Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study
    Lisa Kruse
    Department of Orthopedic Surgery, Washington University School of Medicine, One Children s Place, Suite 4S60, St Louis, MO 63110, USA
    Clin Orthop Relat Res 467:1250-5. 2009
    ..The presence of normal arterial structure in our patient with vertical talus and CDMP-1 mutation suggests that other nonvascular etiologies may be responsible for some cases of foot deformities...
  18. ncbi request reprint Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeet
    Matthew B Dobbs
    Washington University School of Medicine, St Louis Children s Hospital, St Louis, MO 63110, USA
    J Bone Joint Surg Am 86:22-7. 2004
    ..The purpose of this study was to examine the patient characteristics and demographic factors related to the family that are predictive of recurrent foot deformities in patients treated with this method...
  19. pmc Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4
    David M Alvarado
    Department of Orthopaedic Surgery, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 87:154-60. 2010
    ..Our result suggests that this chromosome 17q23.1q23.2 microduplication is a relatively common cause of familial isolated clubfoot and provides strong evidence linking clubfoot etiology to abnormal early limb development...
  20. doi request reprint Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele
    David J Gerlach
    Department of Orthopaedic Surgery, Washington University School of Medicine, St Louis Shriners Hospital for Children, St Louis, MO 63110, USA
    J Bone Joint Surg Am 91:1350-9. 2009
    ..The purpose of the present study was to evaluate the early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele...
  21. pmc DICER1 mutations in familial pleuropulmonary blastoma
    D Ashley Hill
    Washington University Medical Center, St Louis, MO 63110, USA
    Science 325:965. 2009
    ..We hypothesize that loss of DICER1 in the epithelium of the developing lung alters the regulation of diffusible factors that promote mesenchymal proliferation...
  22. pmc Novel genetic findings in an extended family pedigree with sleepwalking
    A K Licis
    Washington University School of Medicine, Department of Neurology, Campus Box 8111, 660 S Euclid Ave, St Louis, MO 63110, USA
    Neurology 76:49-52. 2011
    ..However, inheritance patterns of sleepwalking are poorly understood and there have been no prior reports of genes or chromosomal localization of genes responsible for this disorder...
  23. ncbi request reprint Flexor digitorum accessorius longus muscle is associated with familial idiopathic clubfoot
    Matthew B Dobbs
    Department of Orthopaedic Surgery, Washington University School of Medicine, One Children s Place, St Louis, MO 63110, USA
    J Pediatr Orthop 25:357-9. 2005
    ..6 times more likely to have the anomalous flexor muscle than children without first-degree relatives with clubfoot (odds ratio 6.6; 95% confidence interval 3.63-11.84; P < 0.0001)...
  24. ncbi request reprint Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
    Shaochun Ma
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    Epilepsy Res 71:129-34. 2006
    ..Our data suggests that the majority of familial AD JME is not caused by mutations in the GABRA1 and EFHC1 genes...
  25. ncbi request reprint Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet A 143:27-32. 2007
    ..However, modifier genes may be contributing to the milder phenotype in this family...
  26. ncbi request reprint Analysis of cerebrospinal fluid glial fibrillary acidic protein after seizures in children
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis Children s Hospital, Missouri 63110 1093, USA
    Epilepsia 44:1455-8. 2003
    ....
  27. ncbi request reprint Defining the phenotype to discover the genotype
    Christina A Gurnett
    Neurology 66:1622-3. 2006
  28. ncbi request reprint Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3
    Christina A Gurnett
    Neurogenetics 8:61-3. 2007