Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA‐related segmental overgrowth: Co‐occurrence of mosaicism for 2 rare disorders
Mills, J.R., Moyer, A.M., Kipp, B.R., Poplawski, A.B., Messiaen, L.M., Babovic‐Vuksanovic, D.
Published in Clinical genetics (01.01.2018)
Published in Clinical genetics (01.01.2018)
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Phenotype analysis impacts testing strategy in patients with Currarino syndrome
Cuturilo, G., Hodge, J.C., Runke, C.K., Thorland, E.C., Al-Owain, M.A., Ellison, J.W., Babovic-Vuksanovic, D.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome
Ellingson, M.S., Wick, M.J., White, W.M., Raymond, K.M., Saenger, A.K., Pichurin, P.N., Wassif, C.A., Porter, F.D., Babovic-Vuksanovic, D.
Published in Clinical genetics (01.05.2014)
Published in Clinical genetics (01.05.2014)
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Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature
Mensink, K A, Ketterling, R P, Flynn, H C, Knudson, R A, Lindor, N M, Heese, B A, Spinner, R J, Babovic-Vuksanovic, D
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight
Dombi, E, Solomon, J, Gillespie, A J, Fox, E, Balis, F M, Patronas, N, Korf, B R, Babovic-Vuksanovic, D, Packer, R J, Belasco, J, Goldman, S, Jakacki, R, Kieran, M, Steinberg, S M, Widemann, B C
Published in Neurology (27.02.2007)
Published in Neurology (27.02.2007)
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Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome
Babovic‐Vuksanovic, D., Jacobson, R. M., Lindor, N. M., Weiler, C. R.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Schollen, E., Dorland, L., de Koning, T.J., Van Diggelen, O.P., Huijmans, J.G.M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G.
Published in Human mutation (01.09.2000)
Published in Human mutation (01.09.2000)
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Phase II trial of pirfenidone in adults with neurofibromatosis type 1
Babovic-Vuksanovic, D, Ballman, K, Michels, V, McGrann, P, Lindor, N, King, B, Camp, J, Micic, V, Babovic, N, Carrero, X, Spinner, R, O'Neill, B
Published in Neurology (28.11.2006)
Published in Neurology (28.11.2006)
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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
BABOVIC-VUKSANOVIC, D, MESSIAEN, Ludwine, CLAES, Kathleen, BEERT, Eline, GARRITY, James A, SPINNER, Robert J, STEMMER-RACHAMIMOV, Anat, GAVRILOVA, Ralitza, VAN CALENBERGH, Frank, MAUTNER, Victor, LEGIUS, Eric, NAGEL, Christoph, BREMS, Hilde, SCHEITHAUER, Bernd, DENAYER, Ellen, MAO, Rong, SCIOT, Raf, JANOWSKI, Karen M, SCHUHMANN, Martin U
Published in European journal of human genetics : EJHG (01.06.2012)
Published in European journal of human genetics : EJHG (01.06.2012)
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Hazards of ketoconazole therapy in testotoxicosis
Babovic-Vuksanovic, D, Donaldson, M D, Gibson, N A, Wallace, A M
Published in Acta pædiatrica (Oslo) (01.09.1994)
Published in Acta pædiatrica (Oslo) (01.09.1994)
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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
CORYDON, Morten Juhl, VOCKLEY, Jerry, LEVY, Harvey, SEWELL, Adrian Clive, ROE, Charles, MATERN, Dietrich, DASOUKI, Majed, GREGERSEN, Niels, RINALDO, Piero, RHEAD, William James, KJELDSEN, Margrethe, WINTER, Vibeke, RIGGS, Charles, BABOVIC-VUKSANOVIC, Dusica, SMEITINK, Jan, DE JONG, Jan
Published in Pediatric research (2001)
Published in Pediatric research (2001)
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PCR83 Defining the Smallest Worthwhile Effect of Treatment for Progressive Nervous System Tumors in People with NF2-Related Schwannomatosis: Qualitative Patient Interview Results from a Multicenter Clinical Trial
Merker, V., Von Imhof, L, Park, E.R., Babovic-Vuksanovic, D., Nghiemphu, P.L., Yohay, K.H., Plotkin, S.R.
Published in Value in health (01.06.2023)
Published in Value in health (01.06.2023)
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Journal Article
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
Babovic-Vuksanovic, Dusica, Patterson, Marc C., Schwenk, W.Frederick, O’Brien, John F., Vockley, Jerry, Freeze, Hudson H., Mehta, Darshini P., Michels, Virginia V.
Published in The Journal of pediatrics (01.12.1999)
Published in The Journal of pediatrics (01.12.1999)
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Lack of involvement of delta-opioid receptors in mediating the rewarding effects of cocaine
de Vries, T J, Babovic-Vuksanovic, D, Elmer, G, Shippenberg, T S
Published in Psychopharmacology (01.08.1995)
Published in Psychopharmacology (01.08.1995)
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M, Christiansen, Helena E, Hegde, Madhuri R, Bank, Ruud A, Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M, Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D, Steiner, Robert D, Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V Reid, Davis, Elaine C, Kim, Lammy S, Weis, Mary Ann, Eyre, David, Byers, Peter H
Published in Human molecular genetics (01.01.2013)
Published in Human molecular genetics (01.01.2013)
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Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters
Babovic-Vuksanovic, D, Westman, J A, Jalal, S M, Lindor, N M
Published in Clinical dysmorphology (01.07.1998)
Published in Clinical dysmorphology (01.07.1998)
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Mayer–Rokitansky–Küster–Hauser anomaly and its associated malformations
Pittock, Siobhán T., Babovic‐Vuksanovic, Dusica, Lteif, Aida
Published in American journal of medical genetics. Part A (15.06.2005)
Published in American journal of medical genetics. Part A (15.06.2005)
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Journal Article
Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV
Schwarze, Ulrike, Schievink, Wouter I., Petty, Elizabeth, Jaff, Michael R., Babovic-Vuksanovic, Dusica, Cherry, Kenneth J., Pepin, Melanie, Byers, Peter H.
Published in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
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