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Subject Areas on Research
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A novel mutation in the gene encoding noggin is not causative in human neural tube defects.
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Adult cervicothoracic lipomyelomeningocele.
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An objective score to predict upper tract deterioration in myelodysplasia.
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Anomalies associated with myelodysplasia.
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Chiari malformation clusters describe differing presence of concurrent anomalies based on Chiari type.
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Co-morbidities Associated With Early Mortality in Adults With Spina Bifida.
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Commentary: Limited Dorsal Myeloschisis: Reconsideration of its Embryological Origin.
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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.
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Complications of enterocystoplasty.
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Development of best practices to minimize wound complications after complex tethered spinal cord surgery: a modified Delphi study.
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Epidemiologic and genetic aspects of spina bifida and other neural tube defects.
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Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
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Exposure to fumonisins and the occurrence of neural tube defects along the Texas-Mexico border.
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Fetal Ventriculomegaly.
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Folic acid throughout pregnancy: too much?
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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.
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Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.
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Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300.
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Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.
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Genetic epidemiology of neural tube defects.
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Genetic studies in neural tube defects. NTD Collaborative Group.
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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.
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Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
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Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature.
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Knee flexion contractures in myelodysplasia.
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Maternal dietary patterns are associated with risk of neural tube and congenital heart defects.
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Maternal occupation as a nail technician or hairdresser during pregnancy and birth defects, National Birth Defects Prevention Study, 1997-2011.
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Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
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Molecular mechanisms underlying the potentially adverse effects of folate.
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Myxopapillary Ependymoma and Fatty Filum in an Adult with Tethered Cord Syndrome: A Shared Embryological Lesion? Case Report.
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National trends, complications, and outcomes following transsphenoidal surgery for Cushing's disease from 1993 to 2002.
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Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
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Neural tube defects and herbal medicines containing lead: a possible relationship.
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Neural tube defects in Uganda: follow-up outcomes from a national referral hospital.
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Neurophysiologic intraoperative monitoring during surgery for tethered cord syndrome.
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Pediatric tethered cord syndrome: response of scoliosis to untethering procedures. Clinical article.
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Phase I evaluation of prolonged-infusion gemcitabine with mitoxantrone for relapsed or refractory acute leukemia.
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Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
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Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs.
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Prevention of fumonisin B1-induced neural tube defects by folic acid.
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Prognostic value of neurophysiologic intraoperative monitoring in tethered cord syndrome surgery.
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Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele.
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Refinement of 2q and 7p loci in a large multiplex NTD family.
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Repeated botulinum-A toxin injections in the treatment of myelodysplastic children and patients with spinal cord injuries with neurogenic bladder dysfunction.
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Risk Factors Associated With Recurrent Urinary Tract Infection in Neurogenic Bladders Managed by Clean Intermittent Catheterization.
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Safety and efficacy of concurrent pediatric spinal cord untethering and deformity correction.
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Spinal capillary hemangioma in infants: report of two cases and review of the literature.
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Syrinx location and size according to etiology: identification of Chiari-associated syrinx.
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T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.
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TERC is not a major gene in human neural tube defects.
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The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms.
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The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
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The immunohistochemical profile of the tethered filum terminale.
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The incidence of nephrolithiasis in patients with spinal neural tube defects.
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The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group.
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The urological evaluation and management of patients with myelodysplasia.
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Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
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Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects.
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Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.
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