Publications by authors named "Magdalena Budisteanu"

18Publications

Monoclonal antibodies - a revolutionary therapy in multiple sclerosis.

Neurol Neurochir Pol 2020 24;54(1):21-27. Epub 2020 Jan 24.

Faculty of Medicine, Transilvania University of Brașov, 29, Eroilor Blvd, 500036 Brașov, Romania.

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http://dx.doi.org/10.5603/PJNNS.a2020.0008DOI Listing
March 2020

Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.

Rom J Morphol Embryol 2019 ;60(2):713-716

"Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania;

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March 2020

Clinical and genetic diversity of congenital hyperammonemia.

Rom J Morphol Embryol 2018 ;59(3):945-948

Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Romania;

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January 2019

De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.

Clin Dysmorphol 2017 Jul;26(3):187-189

aMedical Genetics Laboratory, Victor Babes National Institute of Pathology bDepartment of Pediatric Neurology cDepartment of Child and Adolescent Psychiatry, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania dInstitute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000180DOI Listing
July 2017

Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.

Hum Mol Genet 2016 Apr 10;25(7):1294-306. Epub 2016 Jan 10.

Department of Molecular, Cellular, and Developmental Biology, Neuroscience Research Institute, Biomolecular Science and Engineering Program,

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http://dx.doi.org/10.1093/hmg/ddw010DOI Listing
April 2016

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Eur J Med Genet 2015 May 6;58(5):319-23. Epub 2015 Apr 6.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2015.03.005DOI Listing
May 2015

Intellectual disability and epilepsy in down syndrome.

Maedica (Bucur) 2014 Dec;9(4):344-50

Clinic of Pediatric Neurology, "Prof. Dr. Alexandru Obregia" Clinical Psychiatric Hospital, Bucharest, Romania ; "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316878PMC
December 2014

Diagnostic approach of angelman syndrome.

Maedica (Bucur) 2013 Sep;8(4):321-7

"Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania ; "Victor Babes" National Institute of Pathology, Bucharest, Romania.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968465PMC
September 2013

3p interstitial deletion: novel case report and review.

J Child Neurol 2012 Aug 30;27(8):1062-6. Epub 2012 Jan 30.

Victor Babes National Institute of Pathology, Bucharest, Romania.

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http://dx.doi.org/10.1177/0883073811431016DOI Listing
August 2012

Novel clinical finding in MECP2 duplication syndrome.

Eur Child Adolesc Psychiatry 2011 Jul 18;20(7):373-5. Epub 2011 May 18.

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http://dx.doi.org/10.1007/s00787-011-0184-2DOI Listing
July 2011

Oculocutaneous albinism associated with multiple malformations and psychomotor retardation.

Pediatr Dermatol 2010 Mar-Apr;27(2):212-4

Clinical Hospital of Psychiatry Prof. dr. Alexandru Obregia, Bucharest, Romania.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01115.xDOI Listing
September 2010

18q deletion syndrome - A case report.

Maedica (Bucur) 2010 Apr;5(2):135-8

"Prof. dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150013PMC
April 2010

Cohen syndrome - a rare genetic cause of hypotonia in children.

Maedica (Bucur) 2010 Jan;5(1):56-61

Pediatric Neurology Department, "Prof. Dr. Alexandru Obregia" Psychiatry Clinical Hospital, Bucharest, Romania.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150073PMC
January 2010