Neural Tube Defects

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  Subject Areas on Research

  • A novel mutation in the gene encoding noggin is not causative in human neural tube defects. 
  • Adult cervicothoracic lipomyelomeningocele. 
  • An objective score to predict upper tract deterioration in myelodysplasia. 
  • Anomalies associated with myelodysplasia. 
  • Chiari malformation clusters describe differing presence of concurrent anomalies based on Chiari type. 
  • Clinical significance of imaging and histological characteristics of filum terminale in tethered cord syndrome. 
  • Co-morbidities Associated With Early Mortality in Adults With Spina Bifida. 
  • Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. 
  • Complications of enterocystoplasty. 
  • Epidemiologic and genetic aspects of spina bifida and other neural tube defects. 
  • Exposure to fumonisins and the occurrence of neural tube defects along the Texas-Mexico border. 
  • Fetal Ventriculomegaly. 
  • Folic acid throughout pregnancy: too much? 
  • Fumonisins disrupt sphingolipid metabolism, folate transport, and neural tube development in embryo culture and in vivo: a potential risk factor for human neural tube defects among populations consuming fumonisin-contaminated maize. 
  • Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. 
  • Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300. 
  • Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype. 
  • Genetic epidemiology of neural tube defects. 
  • Genetic studies in neural tube defects. NTD Collaborative Group. 
  • High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. 
  • Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. 
  • Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature. 
  • Knee flexion contractures in myelodysplasia. 
  • Lumbar lipomyelomeningocele and sacrococcygeal teratoma in siblings: support for an alternative theory of spinal teratoma formation. 
  • Maternal dietary patterns are associated with risk of neural tube and congenital heart defects. 
  • Maternal occupation as a nail technician or hairdresser during pregnancy and birth defects, National Birth Defects Prevention Study, 1997-2011. 
  • Missing genetic risk in neural tube defects: can exome sequencing yield an insight? 
  • Molecular mechanisms underlying the potentially adverse effects of folate. 
  • Myxopapillary Ependymoma and Fatty Filum in an Adult with Tethered Cord Syndrome: A Shared Embryological Lesion? Case Report. 
  • National trends, complications, and outcomes following transsphenoidal surgery for Cushing's disease from 1993 to 2002. 
  • Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 
  • Neural tube defects and herbal medicines containing lead: a possible relationship. 
  • Neurophysiologic intraoperative monitoring during surgery for tethered cord syndrome. 
  • Pediatric tethered cord syndrome: response of scoliosis to untethering procedures. Clinical article. 
  • Phase I evaluation of prolonged-infusion gemcitabine with mitoxantrone for relapsed or refractory acute leukemia. 
  • Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. 
  • Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs. 
  • Prevention of fumonisin B1-induced neural tube defects by folic acid. 
  • Prognostic value of neurophysiologic intraoperative monitoring in tethered cord syndrome surgery. 
  • Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele. 
  • Refinement of 2q and 7p loci in a large multiplex NTD family. 
  • Repeated botulinum-A toxin injections in the treatment of myelodysplastic children and patients with spinal cord injuries with neurogenic bladder dysfunction. 
  • Risk Factors Associated With Recurrent Urinary Tract Infection in Neurogenic Bladders Managed by Clean Intermittent Catheterization. 
  • Safety and efficacy of concurrent pediatric spinal cord untethering and deformity correction. 
  • Spinal capillary hemangioma in infants: report of two cases and review of the literature. 
  • Syrinx location and size according to etiology: identification of Chiari-associated syrinx. 
  • T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 
  • TERC is not a major gene in human neural tube defects. 
  • The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms. 
  • The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. 
  • The immunohistochemical profile of the tethered filum terminale. 
  • The incidence of nephrolithiasis in patients with spinal neural tube defects. 
  • The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group. 
  • The urological evaluation and management of patients with myelodysplasia. 
  • Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). 
  • Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. 
  • Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. 
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  Keywords of People

  • Preminger, Glenn Michael, James F. Glenn, M.D. Distinguished Professor of Urology, Surgery, Urology