Research Output 2006 2017

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2017

Arbaclofen in fragile X syndrome: Results of phase 3 trials

Berry-Kravis, E., Hagerman, R., Visootsak, J., Budimirovic, D., Kaufmann, W. E., Cherubini, M., Zarevics, P., Walton-Bowen, K., Wang, P., Bear, M. F. & Carpenter, R. L. Jun 12 2017 In : Journal of Neurodevelopmental Disorders. 9, 1, 9

Research output: Contribution to journalArticle

Fragile X Syndrome
Placebos
Socialization
Psychological Adaptation
Parenting

Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment

Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., Brown, W. T. & Berry-Kravis, E. Jun 1 2017 In : Pediatrics. 139, p. S194-S206

Research output: Contribution to journalArticle

Fragile X Syndrome
Pervasive Child Development Disorders
Diagnostic and Statistical Manual of Mental Disorders
Antipsychotic Agents
Sleep

Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome?

Budimirovic, D. B. Sep 7 2017 In : Neurotherapeutics. p. 1-3 3 p.

Research output: Contribution to journalArticle

2015

Paliperidone and aripiprazole differentially affect the strength of calcium-secretion coupling in female pituitary lactotrophs

Kucka, M., Tomić, M., Bjelobaba, I., Stojilkovic, S. S. & Budimirovic, D. B. 2015 In : Scientific Reports. 5, 8902

Research output: Contribution to journalArticle

Prolactin
Calcium
Dopamine
Calcium Signaling
Antipsychotic Agents
2014

Genomic studies in fragile X premutation carriers

Lozano, R., Hagerman, R. J., Duyzend, M., Budimirovic, D. B., Eichler, E. E. & Tassone, F. Jul 30 2014 In : Journal of Neurodevelopmental Disorders. 6, 1, 27

Research output: Contribution to journalArticle

Pervasive Child Development Disorders
Intellectual Disability
Genes
Primary Ovarian Insufficiency
5' Untranslated Regions
2013

Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

Hinton, R., Budimirovic, D. B., Marschik, P. B., Talisa, V. B., Einspieler, C., Gipson, T. & Johnston, M. V. 2013 In : Developmental Neurorehabilitation. 16, 1, p. 58-66 9 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Pervasive Child Development Disorders
Age of Onset
Reproducibility of Results
Diagnostic and Statistical Manual of Mental Disorders
2012

Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

Marschik, P. B., Sigafoos, J., Kaufmann, W. E., Wolin, T., Talisa, V. B., Bartl-Pokorny, K. D., Budimirovic, D. B., Vollmann, R. & Einspieler, C. Nov 2012 In : Research in Developmental Disabilities. 33, 6, p. 1715-1721 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Gestures

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome

Marschik, P. B., Kaufmann, W. E., Einspieler, C., Bartl-Pokorny, K. D., Wolin, T., Pini, G., Budimirovic, D. B., Zappella, M. & Sigafoos, J. Nov 2012 In : Research in Developmental Disabilities. 33, 6, p. 1749-1756 8 p.

Research output: Contribution to journalArticle

Rett Syndrome
Videotape Recording
Communication
2011

What can we learn about autism from studying fragile X syndrome?

Budimirovic, D. B. & Kaufmann, W. E. Nov 2011 In : Developmental Neuroscience. 33, 5, p. 379-394 16 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Pervasive Child Development Disorders
Autistic Disorder
Neuroimaging
Intellectual Disability
2008

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

Coffee, B., Ikeda, M., Budimirovic, D. B., Hjelm, L. N., Kaufmann, W. E. & Warren, S. T. May 15 2008 In : American Journal of Medical Genetics, Part A. 146, 10, p. 1358-1367 10 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Diagnostic Errors
Trinucleotide Repeats
5' Untranslated Regions
Gene Deletion
2006

Autism spectrum disorder in fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal

Budimirovic, D. B., Bukelis, I., Cox, C., Gray, R. M., Tierney, E. & Kaufmann, W. E. Sep 1 2006 In : American Journal of Medical Genetics, Part A. 140, 17, p. 1814-1826 13 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Socialization
Pervasive Child Development Disorders
Social Behavior
Emotions