Research Topics
Species | C A GurnettSummaryAffiliation: Washington University School of Medicine Country: USA Publications
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Detail Information
Publications
Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotypeTracy 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...- Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Christina 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... - Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 qChristina 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... - Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutationChristina 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... - Impact of congenital talipes equinovarus etiology on treatment outcomesChristina 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... - Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardationChristina 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)... - New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulationChristina 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... - Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talusChristina 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... - Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfootChristina A Gurnett
Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
Clin Orthop Relat Res 467:1195-200. 2009..LEVEL OF EVIDENCE: Level II, prospective study. See the Guidelines for Authors for a complete description of levels of evidence... - Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3Christina 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... - HOXD10 M319K mutation in a family with isolated congenital vertical talusMatthew 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.... - Update on clubfoot: etiology and treatmentMatthew 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..LEVEL OF EVIDENCE: Level V, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence... - Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutationMatthew 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... - Pilocytic astrocytoma in a child with Noonan syndromeLaura 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... - Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effectLisa 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... - Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutationMatthew 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... - Magnetic resonance angiography in clubfoot and vertical talus: a feasibility studyLisa 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..LEVEL OF EVIDENCE: Level IV, prognostic case series. See the Guidelines for Authors for a complete description of levels of evidence... - Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeetMatthew 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... - Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4David 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... - Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningoceleDavid 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... - DICER1 mutations in familial pleuropulmonary blastomaD 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... - Novel genetic findings in an extended family pedigree with sleepwalkingA 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... - Flexor digitorum accessorius longus muscle is associated with familial idiopathic clubfootMatthew 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)... - Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsyShaochun 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... - Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactylyChristina 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... - Analysis of cerebrospinal fluid glial fibrillary acidic protein after seizures in childrenChristina A Gurnett
Department of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, Missouri 63110-1093, USA
Epilepsia 44:1455-8. 2003..Increased GFAP levels may occur in patients with normal NSE, suggesting that GFAP may be a more sensitive marker of brain injury in some cases... - Defining the phenotype to discover the genotypeChristina A Gurnett
Neurology 66:1622-3. 2006 - Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3Christina A Gurnett
Neurogenetics 8:61-3. 2007