Publications by authors named "Ute Hehr"

62Publications

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019

Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood.

Clin Neuroradiol 2020 Jun 4;30(2):243-249. Epub 2019 Jan 4.

Clinic for Neurology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1007/s00062-018-0756-3DOI Listing
June 2020

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Mol Genet Genomic Med 2017 Jan 20;5(1):21-27. Epub 2016 Dec 20.

Department of Human Genetics University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald Greifswald Germany.

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http://dx.doi.org/10.1002/mgg3.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241208PMC
January 2017

Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.

Hum Mutat 2017 03 13;38(3):275-278. Epub 2017 Jan 13.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1002/humu.23162DOI Listing
March 2017

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.

Am J Med Genet A 2016 09 10;170(9):2404-7. Epub 2016 Jun 10.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37791DOI Listing
September 2016

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Eur J Hum Genet 2016 10 25;24(10):1467-72. Epub 2016 May 25.

Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2016.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027686PMC
October 2016

How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

Eur Thyroid J 2016 Mar 25;5(1):73-7. Epub 2016 Feb 25.

Department of Internal Medicine III, Giessen University Hospital, Giessen, Germany.

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http://dx.doi.org/10.1159/000443730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836117PMC
March 2016

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Brain Dev 2016 Sep 26;38(8):777-80. Epub 2016 Feb 26.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.

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http://dx.doi.org/10.1016/j.braindev.2016.02.007DOI Listing
September 2016

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Am J Hum Genet 2015 May 23;96(5):765-74. Epub 2015 Apr 23.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570288PMC
May 2015

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

Hum Mol Genet 2014 May 30;23(10):2527-41. Epub 2013 Dec 30.

IZKF Junior Research Group and BMBF Research Group Neuroscience, IZKF, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Glückstr. 6, Erlangen 91054, Germany.

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http://dx.doi.org/10.1093/hmg/ddt644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990156PMC
May 2014

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

Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.

Neurogenetics 2013 Nov 20;14(3-4):205-13. Epub 2013 Sep 20.

Department of Pediatric Neurology, Klinik St. Hedwig, University Children's Hospital Regensburg (KUNO), Steinmetzstr.1-3, 93049, Regensburg, Germany,

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http://dx.doi.org/10.1007/s10048-013-0374-9DOI Listing
November 2013

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

Am J Med Genet A 2013 Jun 1;161A(6):1323-8. Epub 2013 May 1.

Department of Neurology, Epilepsy Center, Erlangen University, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35917DOI Listing
June 2013

Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.

Neurosurg Rev 2013 Jul 13;36(3):483-6. Epub 2013 Apr 13.

Department of Neurosurgery, University Hospital Essen, Hufelandstrasse 55, 45121, Essen, Germany.

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http://dx.doi.org/10.1007/s10143-013-0456-zDOI Listing
July 2013

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Brain 2013 Feb 29;136(Pt 2):536-48. Epub 2013 Jan 29.

Institute of Life Science, College of Medicine, Swansea University, Swansea SA2 8PP, UK.

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http://dx.doi.org/10.1093/brain/aws338DOI Listing
February 2013

Familial cardiac valvulopathy due to filamin A mutation.

Am J Med Genet A 2011 Sep 3;155A(9):2236-41. Epub 2011 Aug 3.

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.34132DOI Listing
September 2011

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Neurogenetics 2007 Nov 29;8(4):279-88. Epub 2007 Sep 29.

Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz-Josef-Strauss-Allee 11, Regensburg 93053, Germany.

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http://dx.doi.org/10.1007/s10048-007-0096-yDOI Listing
November 2007

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

Eur J Paediatr Neurol 2007 Jan 11;11(1):46-9. Epub 2006 Dec 11.

Faculty of Medicine, Department of Child Neurology, University of Dokuz Eylul, 35340 Izmir, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798060016
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http://dx.doi.org/10.1016/j.ejpn.2006.10.007DOI Listing
January 2007

Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.

Clin Neurol Neurosurg 2006 Oct 15;108(7):692-8. Epub 2005 Aug 15.

Department of Neurology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1016/j.clineuro.2005.06.007DOI Listing
October 2006

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.

Eur J Pediatr 2005 May 22;164(5):326-8. Epub 2005 Feb 22.

Department of Neuropaediatrics and Neurophysiology, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland.

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http://dx.doi.org/10.1007/s00431-005-1622-2DOI Listing
May 2005

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

Eur J Pediatr 2004 Jul 24;163(7):347-52. Epub 2004 Apr 24.

Centre for Gynaecological Endocrinology, Reproductive Medicine and Human Genetics, Hemauerstrasse 1, 93047 Regensburg, Germany.

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http://link.springer.com/content/pdf/10.1007/s00431-004-1459
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http://link.springer.com/10.1007/s00431-004-1459-0
Publisher Site
http://dx.doi.org/10.1007/s00431-004-1459-0DOI Listing
July 2004