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Tuberous Sclerosis Program

Tuberous Sclerosis Publications

The faculty members in the Tuberous Sclerosis Clinic at Cincinnati Children's Hospital Medical Center are active in developing publications and conducting research examining tuberous sclerosis and its treatments:

  • Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G, Dinopoulos A, Thomas G, Crone KR: Rapamycin Causes Regression of Astrocytomas in Tuberous Sclerosis Complex, Annals of Neurology 2006; 59:490-498.
  • Walz NC, Byars AW, Egelhoff JC, Franz DN. Supratentorial Tuber Location and Autism in Tuberous Sclerosis Complex. J Child Neurolm, 2002; 17: 830-832.
  • Casper KA, Donnelly LF, Chen B, Bissler JJ. Renal Imaging Findings in Patients with Tuberous Sclerosis. Radiology, 2002.
  • Dabora S, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele E, Sims K, Kwiatkowski D. Association between a High-Expressing Interferon-Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients. Am. Journal of Human Genetics, June 2002, 71.
  • Bissler JJ, Ricadio R, Donnelly LF, Johnson ND. Reduction of the post-embolization syndrome following ablation of renal angiomyolipoma. Am. J. Kidney. Dis. 2002; 39:966-71.
  • Dabora SL, Jozwiak S, Franz DN, Roberts P, Nieto A, Chung J, Choy YW, Reeve MP, Thiele E, Egelhoff J, Kasprzyk J, Pakiela D, Kwiatkowski D. Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, compared with TSC1, Disease in Multiple Organs. American Journal of Human Genetics, 68: 64-80, 2001.
  • Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman, Colby T, Kwiatkowski D, McCormack F. Mutational and Radiographic Analysis of Pulmonary Disease Consistent with Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in Women with Tuberous Sclerosis. American Journal of Respiratory and Critical Care Medicine, Vol 164, 1-8, 2001.
  • Franz, DN, Tudor C, Leonard J, Egelhoff J, Byars A, Valerius K, Sethuraman G. Lamotrigine Therapy of Epilepsy in Tuberous Sclerosis. Epilepsia, 42: 7, pp 1-6, 2001.
  • Dabora SL, Roberts PS, Nieto A, Chung J, Choy, YS, Reeve MP, Thiele E, Egelhoff J, Franz D, Kasprzyk-Obara DJ, Domanska-Pakiela D, Jozwiak S, Kwiatkowski D. Genotype / phenotype analysis in a cohort of 224 TSC patients indicates increased severity of TSC2 compared with TSC1 disease in multiple organs. Am. J. Hum. Gen., January 2001.
  • Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, McCormack FX. Pulmonary cystic and nodular changes consistent with LAM and MMPH are common in women with tuberous sclerosis. ATS, May 2001.
  • P Chung J, Jozwiak S, Dabora S, Nieto A, Perez R, Franz D, Thiele E, Kwiatkowski D. SNP identification, linkage dysequilibrium (LD) and maternal origin or mutations in TSC2. American Society of Human Genetics, June 2001.