Research Topics
| D Babovic-VuksanovicSummaryAffiliation: Mayo Clinic Country: USA Publications
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Detail Information
Publications
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndromeD 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...
Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotypeNikola 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...
Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromasDusica 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...- Phase II trial of pirfenidone in adults with neurofibromatosis type 1D 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... - Guidelines for buccal smear collection in breast-fed infantsD 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... - Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndromeD 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... - Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardationDusica 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... - Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndromeVance 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... - Resection of benign sciatic notch dumbbell-shaped tumorsRobert J Spinner
Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
J Neurosurg 105:873-80. 2006.... - Vitamin A deficiency in an infant with PAGOD syndromeRalitza Gavrilova
Department of Medical Genetics, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA
Am J Med Genet A 149:2241-7. 2009.... - The phenotypic spectrum of trisomy 2: report of two new casesErcan 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... - 14q32.3 deletion syndrome with autismJ Lawrence Merritt
Am J Med Genet A 133:99-100. 2005 - Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patientsSyed M Jalal
Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
Genet Med 5:28-34. 2003..No subtelomeric abnormalities were detected in our group of 53 MM patients, suggesting a relatively low frequency of occurrence in this patient population... - 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.... - Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer developmentHana 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... - Liposuction: a less invasive surgical method of debulking plexiform neurofibromasSrdan 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..CONCLUSION: Liposuction may be a preferable surgical method for debulking of superficial plexiform neurofibromas in patients with NF1. This method is less invasive than conventional surgical tumor debulking... - Contiguous conventional and plexiform schwannomas. Report of two casesJ 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... - Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomaliesCindy 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... - The role of high-resolution computed tomography and magnetic resonance imaging in the evaluation of isolated orbital neurofibromasWon Chan Park
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Ophthalmol 142:456-63. 2006..CONCLUSIONS: Isolated orbital neurofibromas may present with differing radiologic appearances. The combined use of high-resolution CT and MRI may be of benefit in the preoperative diagnosis of these uncommon orbital tumors...