Publications by authors named "Thorsten Rosenbaum"

28Publications

Clinical characterization of children and adolescents with NF1 microdeletions.

Childs Nerv Syst 2020 Oct 12;36(10):2297-2310. Epub 2020 Jun 12.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00381-020-04717-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575500PMC
October 2020

Trametinib Induces Neurofibroma Shrinkage and Enables Surgery.

Neuropediatrics 2019 10 29;50(5):300-303. Epub 2019 May 29.

Department of Pediatrics, Sana Kliniken Duisburg, Germany.

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http://dx.doi.org/10.1055/s-0039-1691830DOI Listing
October 2019

Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.

Fam Cancer 2019 07;18(3):353-358

Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://link.springer.com/10.1007/s10689-019-00121-z
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http://dx.doi.org/10.1007/s10689-019-00121-zDOI Listing
July 2019

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

Am J Med Genet A 2017 Oct 17;173(10):2803-2807. Epub 2017 Aug 17.

Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38390DOI Listing
October 2017

Nevus Anemicus As an Additional Diagnostic Marker of Neurofibromatosis Type 1 in Childhood.

Neuropediatrics 2016 Jun 28;47(3):190-3. Epub 2016 Mar 28.

Department of Pediatrics, Sana Kliniken Duisburg, Wedau Kliniken, Duisburg, Germany.

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http://dx.doi.org/10.1055/s-0036-1579786DOI Listing
June 2016

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

Eur J Med Genet 2013 Dec 10;56(12):689-94. Epub 2013 Oct 10.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.014DOI Listing
December 2013

Pediatric parafalcine empyemas.

J Surg Case Rep 2013 Aug 29;2013(8). Epub 2013 Aug 29.

Department of Neurosurgery, Academic Teaching Hospital of University Duisburg - Essen, Duisburg, Germany Department of Pediatrics, Academic Teaching Hospital of University Duisburg - Essen, Duisburg, Germany.

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http://dx.doi.org/10.1093/jscr/rjt067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3813702PMC
August 2013

Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone.

Pediatr Res 2008 Jul;64(1):40-3

Department of General Pediatrics, University Children's Hospital Duesseldorf, D-40225 Duesseldorf, Germany.

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http://dx.doi.org/10.1203/PDR.0b013e31817445b8DOI Listing
July 2008

"How much brain is really necessary?" A case of complex cerebral malformation and its clinical course.

J Child Neurol 2007 Jun;22(6):756-60

Department of General Pediatrics, Heinrich-Heine-University, Dusseldorf, Germany.

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http://dx.doi.org/10.1177/0883073807304013DOI Listing
June 2007

Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up.

Childs Nerv Syst 2007 Mar 29;23(3):343-7. Epub 2006 Aug 29.

Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s00381-006-0222-4DOI Listing
March 2007

Biocatalytic production of enantiopure cyclohexane-trans-1,2-diol using extracellular lipases from Bacillus subtilis.

Appl Microbiol Biotechnol 2006 Oct 4;72(6):1107-16. Epub 2006 Apr 4.

Institut für Biotechnologie 2, Forschungszentrum Jülich, D-52425 Jülich, Germany.

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http://dx.doi.org/10.1007/s00253-006-0391-9DOI Listing
October 2006

Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas.

Brain Dev 2006 Jun 14;28(5):275-80. Epub 2006 Feb 14.

Department of Maxillofacial and Facial Plastic Surgery, Marienhospital, Friedrich-Ebert-Allee 100, D-52066 Aachen, Germany.

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http://dx.doi.org/10.1016/j.braindev.2005.10.001DOI Listing
June 2006

Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology.

Pediatr Blood Cancer 2007 Dec;49(7):1029-33

Department of General Pediatrics, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, Düsseldorf, Germany.

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http://dx.doi.org/10.1002/pbc.20783DOI Listing
December 2007

Pseudotumor cerebri as an important differential diagnosis of papilledema in children.

Brain Dev 2006 Apr 20;28(3):190-5. Epub 2005 Dec 20.

Department of General Pediatrics, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, D-40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1016/j.braindev.2005.07.003DOI Listing
April 2006

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

Pediatr Res 2005 Dec;58(6):1265-8

Department of Human Genetics, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Austria.

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http://dx.doi.org/10.1203/01.pdr.0000183661.81772.f8DOI Listing
December 2005

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

Pediatr Res 2005 Dec;58(6):1265-8

Department of Human Genetics, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Austria.

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http://dx.doi.org/10.1203/01.pdr.0000183661.81772.f8DOI Listing
December 2005

Subdural hematoma as clinical presentation of osteogenesis imperfecta.

Pediatr Neurol 2005 Feb;32(2):140-2

Department of General Pediatrics, Heinrich-Heine-University, Moorenstrasse 5, D-40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.07.011DOI Listing
February 2005

Fanconi syndrome caused by antiepileptic therapy with valproic Acid.

Epilepsia 2004 Jul;45(7):868-71

Department of General Pediatrics, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1111/j.0013-9580.2004.05504.xDOI Listing
July 2004

Neurofibromin, the Neurofibromatosis Type 1 Ras-GAP, Is Required for Appropriate P Expression and Myelination.

Ann N Y Acad Sci 1999 Oct;883(1):203-214

Department of Cell Biology, Neurobiology, and Anatomy, University of Cincinnati Medical School, P.O. Box 670521, Cincinnati, Ohio 45267-0521, USA.

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http://dx.doi.org/10.1111/j.1749-6632.1999.tb08583.xDOI Listing
October 1999