Publications by authors named "Dusica Babovic-Vuksanovic"

85Publications

Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow-up.

Clin Endocrinol (Oxf) 2020 May 14. Epub 2020 May 14.

Division of Endocrinology, Diabetes, and Nutrition, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1111/cen.14222DOI Listing
May 2020

Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome.

Dig Dis Sci 2020 Apr 18. Epub 2020 Apr 18.

Division of Gastroenterology and Hepatology, Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER), Mayo Clinic, 200 First St. S.W., Charlton Bldg., Rm. 8-110, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1007/s10620-020-06265-8DOI Listing
April 2020

An intragenic duplication of leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a004655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913153PMC
December 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Genomics as a Scientifically Based Fortune-teller.

Mayo Clin Proc 2019 01;94(1):7-9

Department of Clinical Genomics, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2018.11.008DOI Listing
January 2019

When Biochemical Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma.

Am J Med 2018 05 31;131(5):506-509. Epub 2018 Jan 31.

Division of Endocrinology, Diabetes, Metabolism and Nutrition, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1016/j.amjmed.2018.01.010DOI Listing
May 2018

A novel frameshift deletion in in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Mol Genet Genomic Med 2017 Mar 26;5(2):141-146. Epub 2017 Jan 26.

Center for Individualized MedicineMayo ClinicRochesterMinnesota55901; Department of Health Science ResearchMayo ClinicRochesterMinnesota55901; Department of Clinical GenomicsMayo ClinicRochesterMinnesota55901; Department of Laboratory Medicine and PathologyMayo ClinicRochesterMinnesota55901.

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http://doi.wiley.com/10.1002/mgg3.268
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http://dx.doi.org/10.1002/mgg3.268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370226PMC
March 2017

An association of peripheral nerve sheath tumors and lipomas.

Acta Neurochir (Wien) 2017 01 30;159(1):185-190. Epub 2016 Nov 30.

Department of Neurologic Surgery, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1007/s00701-016-3038-3DOI Listing
January 2017

Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing.

Am J Med Genet A 2016 Dec 8;170(12):3359. Epub 2016 Sep 8.

Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine/Molecular Genetics Laboratory, Aurora, Colorado.

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http://doi.wiley.com/10.1002/ajmg.a.37869
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http://dx.doi.org/10.1002/ajmg.a.37869DOI Listing
December 2016

Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1.

Clin Endocrinol (Oxf) 2017 Jan 26;86(1):141-149. Epub 2016 Aug 26.

Division of Endocrinology, Metabolism and Nutrition, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1111/cen.13163DOI Listing
January 2017

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

J Med Genet 2016 Feb 2;53(2):123-6. Epub 2015 Sep 2.

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103177DOI Listing
February 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Oncolytic measles virus as a novel therapy for malignant peripheral nerve sheath tumors.

Gene 2015 Jul 2;565(1):140-5. Epub 2015 Apr 2.

Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.001DOI Listing
July 2015

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

Am J Med Genet A 2014 Sep 28;164A(9):2356-9. Epub 2014 May 28.

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.36621DOI Listing
September 2014

The Case | Renal dysfunction in a pregnant patient with IgA nephropathy.

Kidney Int 2014 Jun;85(6):1477-8

Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/ki.2013.322DOI Listing
June 2014

Recommendations for imaging tumor response in neurofibromatosis clinical trials.

Neurology 2013 Nov;81(21 Suppl 1):S33-40

From the Pediatric Oncology Branch (E.D., B.C.W.), National Cancer Institute, Bethesda, MD; Department of Neurology (S.L.A.-H.), The Children's Hospital at Westmead, Sydney, Australia; Department of Medical Genetics (D. B.-V.), Mayo Clinic, Rochester, MN; Neurosurgical Service (F.G.B.), Department of Radiology (G.J.H.), and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston, MA; Department of Neuroradiology (S.C.), King's College Hospital, London, UK; Department of Genetic Medicine (D.G.E.), MAHSC, St Mary's Hospital, Manchester, UK; Division of Oncology (M.J.F.) and Department of Radiology (D.J.), The Children's Hospital of Philadelphia; Department of Pediatrics (M.J.F.), The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Department of Neurosurgery (S.G.), Hôpital Beaujon, Clichy, France; Division of Pediatric Hematology/Oncology and NYU Cancer Institute (M.A.K.), NYU Langone Medical Center, New York, NY; Department of Genetics (B.R.K.), University of Alabama at Birmingham, Birmingham, AL; Department of Neurology (V.M.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Department of Radiology (T.Y.P.), Boston Children's Hospital, Boston, MA; and Department of Pediatrics (K.R., C.-S.S.), Riley Hospital for Children, Indianapolis, IN.

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http://dx.doi.org/10.1212/01.wnl.0000435744.57038.afDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908340PMC
November 2013

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.

Mol Cytogenet 2013 May 6;6(1):19. Epub 2013 May 6.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 971 Hilton, 200 1st St SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1186/1755-8166-6-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671142PMC
May 2013

Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene.

J Pediatr Endocrinol Metab 2013 ;26(3-4):369-72

Division of Pediatric Endocrinology and Metabolism, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1515/jpem-2012-0255DOI Listing
August 2013

Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions.

J Child Neurol 2014 Mar 23;29(3):326-30. Epub 2012 Dec 23.

1Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1177/0883073812469723DOI Listing
March 2014

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

Am J Med Genet A 2012 Jan 21;158A(1):193-8. Epub 2011 Nov 21.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1002/ajmg.a.34360DOI Listing
January 2012

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

J Hum Genet 2011 Jul 19;56(7):516-23. Epub 2011 May 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/jhg.2011.51DOI Listing
July 2011

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.

Am J Med Genet A 2011 Apr 15;155A(4):855-9. Epub 2011 Mar 15.

Mayo Medical School, Rochester, Minnesota, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33901
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http://dx.doi.org/10.1002/ajmg.a.33901DOI Listing
April 2011

Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype.

Am J Med Genet A 2010 Oct;152A(10):2623-7

Mayo Medical School, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33637
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http://dx.doi.org/10.1002/ajmg.a.33637DOI Listing
October 2010

Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2010 Sep;152A(9):2379-82

Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1002/ajmg.a.33561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332551PMC
September 2010

Anesthetic implications of ornithine transcarbamylase deficiency.

Paediatr Anaesth 2010 Jul 20;20(7):666-73. Epub 2010 May 20.

Department of Anesthesiology, College of Medicine, Mayo Clinic, Rochester, MN 55901, USA.

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http://dx.doi.org/10.1111/j.1460-9592.2010.03322.xDOI Listing
July 2010

Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk.

Lung Cancer 2010 Oct 8;70(1):14-21. Epub 2010 Feb 8.

Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.lungcan.2010.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895007PMC
October 2010

Towards individualized medicine: insights gained from genomic studies.

Bosn J Basic Med Sci 2009 Oct;9 Suppl 1:11-6

Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.17305/bjbms.2009.2748DOI Listing
October 2009

Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome.

Am J Med Genet A 2009 Dec;149A(12):2824-7

Department of Radiology, Mayo Clinic Graduate School of Medical Education, 200 First St S.W., Rochester, MN 55905, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33108
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http://dx.doi.org/10.1002/ajmg.a.33108DOI Listing
December 2009

Vitamin A deficiency in an infant with PAGOD syndrome.

Am J Med Genet A 2009 Oct;149A(10):2241-7

Department of Medical Genetics, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32998
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http://dx.doi.org/10.1002/ajmg.a.32998DOI Listing
October 2009

Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis type 2.

J Neurosurg 2010 Jan;112(1):81-7

Department of Otorhinolaryngology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.3171/2009.6.JNS09105DOI Listing
January 2010

The phenotypic spectrum of trisomy 2: report of two new cases.

Clin Dysmorphol 2009 Oct;18(4):201-4

Department of Medical Genetics, Mayo College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32832d0639DOI Listing
October 2009

Vitreous veils and radial lattice in Marshall syndrome.

Ophthalmic Genet 2008 Dec;29(4):184-5

Department of Ophthalmology, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1080/13816810802406339DOI Listing
December 2008

Ischemic stroke as the presenting symptom of primary hyperparathyroidism due to multiple endocrine neoplasia type 1.

J Pediatr 2008 Oct;153(4):582-5

Division of Pediatric Endocrinology and Metabolism, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.jpeds.2008.04.070DOI Listing
October 2008

Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.

Mol Diagn Ther 2007 ;11(5):303-11

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1007/BF03256251DOI Listing
February 2008

Resection of benign sciatic notch dumbbell-shaped tumors.

J Neurosurg 2006 Dec;105(6):873-80

Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.3171/jns.2006.105.6.873DOI Listing
December 2006

A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.

Ophthalmic Genet 2006 Dec;27(4):157-9

Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1080/13816810600977168DOI Listing
December 2006

Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.

Am J Med Genet A 2006 Aug;140(15):1669-72

Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1002/ajmg.a.31351DOI Listing
August 2006

Contiguous conventional and plexiform schwannomas. Report of two cases.

J Neurosurg 2006 Feb;104(2):319-24

Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.3171/jns.2006.104.2.319DOI Listing
February 2006

Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations.

Am J Med Genet A 2005 Jun;135(3):314-6

Department of Pediatric and Adolescent Medicine, Division of Pediatric Endocrinology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30721
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http://dx.doi.org/10.1002/ajmg.a.30721DOI Listing
June 2005

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

Am J Med Genet A 2004 Feb;125A(1):86-91

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20420
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http://dx.doi.org/10.1002/ajmg.a.20420DOI Listing
February 2004

Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.

Am J Med Genet A 2004 Jan;124A(3):318-22

Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 559905, USA.

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http://dx.doi.org/10.1002/ajmg.a.20391DOI Listing
January 2004

Liposuction: a less invasive surgical method of debulking plexiform neurofibromas.

Dermatol Surg 2003 Jul;29(7):785-7

Olmsted Medical Center Department of Medical Genetics Division of Plastic and Reconstructive Surgery, Mayo Clinic/Mayo Foundation, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1046/j.1524-4725.2003.29199.xDOI Listing
July 2003

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.

Genet Med 2003 Jan-Feb;5(1):28-34

Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/00125817-200301000-00005DOI Listing
August 2003

Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.

Am J Med Genet 2002 Jul;111(1):61-7

Cytogenetics Laboratory, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1002/ajmg.10457DOI Listing
July 2002