D Babovic-Vuksanovic

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. pmc Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
    Nicole Hoppman
    Department of Laboratory Medicine and Pathology, Mayo Clinic, 971 Hilton, 200 1st St SW, Rochester, MN, 55905, USA
    Mol Cytogenet 6:19. 2013
  2. pmc Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo College of Medicine, Rochester, MN 55905, USA
    Eur J Hum Genet 20:618-25. 2012
  3. doi request reprint Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype
    Nikola Babovic
    Mayo Medical School, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet A 152:2623-7. 2010
  4. ncbi request reprint Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromas
    Dusica Babovic-Vuksanovic
    Department of Medical Genetics, Mayo College of Medicine, Rochester, MN, USA
    Pediatr Neurol 36:293-300. 2007
  5. ncbi request reprint Phase II trial of pirfenidone in adults with neurofibromatosis type 1
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Neurology 67:1860-2. 2006
  6. ncbi request reprint Guidelines for buccal smear collection in breast-fed infants
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
    Am J Med Genet 84:357-60. 1999
  7. ncbi request reprint Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Inherit Metab Dis 28:181-6. 2005
  8. ncbi request reprint Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation
    Dusica Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 559905, USA
    Am J Med Genet A 124:318-22. 2004
  9. ncbi request reprint Resection of benign sciatic notch dumbbell-shaped tumors
    Robert J Spinner
    Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Neurosurg 105:873-80. 2006
  10. doi request reprint Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome
    Vance T Lehman
    Department of Radiology, Mayo Clinic Graduate School of Medical Education, 200 First St S W, Rochester, MN 55905, USA
    Am J Med Genet A 149:2824-7. 2009

Collaborators

Detail Information

Publications21

  1. pmc Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
    Nicole Hoppman
    Department of Laboratory Medicine and Pathology, Mayo Clinic, 971 Hilton, 200 1st St SW, Rochester, MN, 55905, USA
    Mol Cytogenet 6:19. 2013
    ..3. Females with DIS have only hearing loss and are fertile. Until recently this syndrome has only been described in three consanguineous families and 2 nonconsanguineous families...
  2. pmc Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo College of Medicine, Rochester, MN 55905, USA
    Eur J Hum Genet 20:618-25. 2012
    ..Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder...
  3. doi request reprint Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype
    Nikola Babovic
    Mayo Medical School, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet A 152:2623-7. 2010
    ..We believe that ovarian cystadenomas may be another neoplastic complication of infantile polyposis, and that our report widens the spectrum of the 10q23 microdeletion phenotype...
  4. ncbi request reprint Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromas
    Dusica Babovic-Vuksanovic
    Department of Medical Genetics, Mayo College of Medicine, Rochester, MN, USA
    Pediatr Neurol 36:293-300. 2007
    ..The second dose level was the pharmacokinetically comparable dose and is being used in an ongoing phase II trial of pirfenidone for children with neurofibromatosis 1 and progressive plexiform neurofibroma...
  5. ncbi request reprint Phase II trial of pirfenidone in adults with neurofibromatosis type 1
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Neurology 67:1860-2. 2006
    ..Pirfenidone warrants further investigation in NF1, which has until now lacked an effective control therapy...
  6. ncbi request reprint Guidelines for buccal smear collection in breast-fed infants
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
    Am J Med Genet 84:357-60. 1999
    ..In addition, prior to sample collection, buccal mucosa should be cleaned thoroughly with a cotton swab applicator. The same guidelines are applicable to older nursing infants...
  7. ncbi request reprint Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Inherit Metab Dis 28:181-6. 2005
    ..Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients...
  8. ncbi request reprint Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation
    Dusica Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 559905, USA
    Am J Med Genet A 124:318-22. 2004
    ..Therefore, FISH analysis using subtelomeric probes should be considered for diagnostic evaluation of patients with psychiatric symptoms and mental retardation in whom the karyotype is normal...
  9. ncbi request reprint Resection of benign sciatic notch dumbbell-shaped tumors
    Robert J Spinner
    Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Neurosurg 105:873-80. 2006
    ....
  10. doi request reprint Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome
    Vance T Lehman
    Department of Radiology, Mayo Clinic Graduate School of Medical Education, 200 First St S W, Rochester, MN 55905, USA
    Am J Med Genet A 149:2824-7. 2009
    ..Moreover, it is likely to be observed in the future due to increased use of MR imaging...
  11. doi request reprint The phenotypic spectrum of trisomy 2: report of two new cases
    Ercan Mihci
    Department of Medical Genetics, Mayo College of Medicine, Rochester, Minnesota 55905, USA
    Clin Dysmorphol 18:201-4. 2009
    ..The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2...
  12. doi request reprint Vitamin A deficiency in an infant with PAGOD syndrome
    Ralitza Gavrilova
    Department of Medical Genetics, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA
    Am J Med Genet A 149:2241-7. 2009
    ....
  13. ncbi request reprint 14q32.3 deletion syndrome with autism
    J Lawrence Merritt
    Am J Med Genet A 133:99-100. 2005
  14. ncbi request reprint Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5)
    Regina Ensenauer
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet A 125:86-91. 2004
    ....
  15. ncbi request reprint Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients
    Syed M Jalal
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
    Genet Med 5:28-34. 2003
    ....
  16. ncbi request reprint Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies
    Cindy Pham Lorentz
    Cytogenetics Laboratory, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
    Am J Med Genet 111:61-7. 2002
    ..The clinical presentation of our patient was consistent with reported cases of 13q deletions. In addition, our patient had airway anomalies, including a type I laryngeal cleft and tracheal stenosis, which are previously unreported...
  17. doi request reprint Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development
    Hana Oslejskova
    Department of Pediatric Neurology, University Hospital Brno, Brno, Czech Republic
    J Pediatr Hematol Oncol 30:689-91. 2008
    ..Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor...
  18. ncbi request reprint Liposuction: a less invasive surgical method of debulking plexiform neurofibromas
    Srdan Babovic
    Olmsted Medical Center Department of Medical Genetics Division of Plastic and Reconstructive Surgery, Mayo Clinic Mayo Foundation, Rochester, Minnesota 55905, USA
    Dermatol Surg 29:785-7. 2003
    ..Surgical debulking of tumors also sometimes leads to extensive scarring, which may be very disfiguring...
  19. ncbi request reprint Contiguous conventional and plexiform schwannomas. Report of two cases
    J Bradley White
    Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Neurosurg 104:319-24. 2006
    ..To the best of the authors' knowledge, this is the first report of a conventional schwannoma contiguous with a deep plexiform schwannoma...
  20. ncbi request reprint The role of high-resolution computed tomography and magnetic resonance imaging in the evaluation of isolated orbital neurofibromas
    Won Chan Park
    Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Ophthalmol 142:456-63. 2006
    ..To analyze the imaging findings in patients diagnosed with isolated orbital neurofibromas...