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  1. Redding, AR, Lew, DB, Conley, ME, Pivnick, EK. An infant with erythroderma, skin scaling, chronic emesis, and intractable diarrhea. Clin Pediatr (Phila), 48 (9), 978-80, 2009.
  2. Donepudi, SK, Stocks, RM, Pivnick, EK, Mineck, C, Thompson, JW. Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. Int J Pediatr Otorhinolaryngol, 73 (6), 861-6, 2009.
  3. Scott R, Dowell SH, Huang EY, Van den Veyver IB, Wang X, Eubanks III JW, and Pivnick EK. Goltz syndrome: Report of two cases. BMJ Case Reports., casereport (March 17), 2009.
  4. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Fryer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo J-CA, Von der Hagen M, Jardine P, Tato L, Chabrol B, McCandless S, Kimura S, Mehta L, Levine J, Spencer C, Bali D, Skrinar A, Morgan C, Rangachari L and Kishnani P. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.. Genetics in MedicineVol:11, Number 3, March 2009, 11 (3), 2009.
  5. Iannaccone, A, McCluney, RA, Brewer, VR, Spiegel, PH, Taylor, JS, Kerr, NC, Pivnick, EK. Visual evoked potentials in children with neurofibromatosis type 1. Doc Ophthalmol, 105 (1), 63-81, 2002.
  6. Steen, RG, Taylor, JS, Langston, JW, Glass, JO, Brewer, VR, Reddick, WE, Mages, R, Pivnick, EK. Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR Am J Neuroradiol, 22 (5), 810-7, 2001.
  7. Pivnick, EK, Angle, B, Kaufman, RA, Hall, BD, Pitukcheewanont, P, Hersh, JH, Fowlkes, JL, Sanders, LP, O'Brien, JM, Carroll, GS, Gunther, WM, Morrow, HG, Burghen, GA, Ward, JC. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. Am J Med Genet, 90 (2), 131-40, 2000.
  8. Pivnick, EK, Rivas, ML, Tolley, EA, Smith, SD, Presbury, GJ. Interpupillary distance in a normal black population. Clin Genet, 55 (3), 182-91, 1999.
  9. Pivnick, EK, Kaufman, RA, Velagaleti, GV, Gunther, WM, Abramovici, D. Infant with midline thoracoabdominal schisis and limb defects. Teratology, 58 (5), 205-8, 1998.
  10. Park, VM, Kenwright, KA, Sturtevant, DB, Pivnick, EK. Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet, 103 (4), 382-5, 1998.
  11. Park, VM, Pivnick, EK. Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet, 35 (10), 813-20, 1998.
  12. Kaste, SC, Pivnick, EK. Bony orbital morphology in neurofibromatosis type 1 (NF1). J Med Genet, 35 (8), 628-31, 1998.
  13. Pivnick, EK, Furman, WL, Velagaleti, GV, Jenkins, JJ, Chase, NA, Ribeiro, RC. Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. J Med Genet, 35 (4), 328-32, 1998.
  14. Pivnick, EK, Lobe, TE, Fitch, SJ, Riccardi, VM. Hair whorl as an indicator of a mediastinal plexiform neurofibroma. Pediatr Dermatol, 14 (3), 196-8, 1997.
  15. Walter, AW, Pivnick, EK, Bale, AE, Kun, LE. Complications of the nevoid basal cell carcinoma syndrome: a case report. J Pediatr Hematol Oncol, 19 (3), 258-62, 1997.
  16. Gross, SJ, Tharapel, AT, Phillips, OP, Shulman, LP, Pivnick, EK, Park, VM. A jumping Robertsonian translocation: a molecular and cytogenetic study. Hum Genet, 98 (3), 291-6, 1996.
  17. Pivnick, EK, Velagaleti, GV, Wilroy, RS, Smith, ME, Rose, SR, Tipton, RE, Tharapel, AT. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet, 33 (9), 772-8, 1996.
  18. Pivnick, EK, Walter, AW, Lawrence, MD, Smith, ME. Gorlin syndrome associated with midline nasal dermoid cyst. J Med Genet, 33 (8), 704-6, 1996.
  19. Pivnick, EK, Wilroy, RS, Martens, PR, Teather, TC, Hashimoto, K. Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome. Am J Med Genet, 62 (4), 386-90, 1996.
  20. Pivnick, EK, Kerr, NC, Kaufman, RA, Jones, DP, Chesney, RW. Rickets secondary to phosphate depletion. A sequela of antacid use in infancy. Clin Pediatr (Phila), 34 (2), 73-8, 1995.
  21. Pivnick, EK, Wachtel, S, Woods, D, Simpson, JL, Bishop, CE. Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis. Hum Genet, 90 (3), 308-10, 1992.
  22. Pivnick, EK, Burstein, S, Wilroy, RS, Kaufman, RA, Ward, JC. Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure. Am J Med Genet, 41 (4), 503-7, 1991.