Publications by authors named "Axel Bohring"

23Publications

Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor.

Am J Pathol 2016 12 17;186(12):3285-3296. Epub 2016 Oct 17.

Institute of Neuropathology, University Hospital Münster, Münster, Germany; Institute of Pathology, Health Care Center, Brandenburg Hospital, Brandenburg Medical School Theodor Fontane, Brandenburg an der Havel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2016.08.019DOI Listing
December 2016

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

J Med Genet 2011 Jun 26;48(6):426-32. Epub 2011 Feb 26.

Children's Hospital, University of Erlangen-Nürnberg, Loschgestr. 15, Erlangen 91054, Germany.

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http://dx.doi.org/10.1136/jmg.2010.084012DOI Listing
June 2011

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Ann Hum Genet 2009 May 25;73(Pt 3):283-91. Epub 2009 Mar 25.

Institute of Human Genetics, Medical Faculty at the University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1111/j.1469-1809.2009.00508.xDOI Listing
May 2009

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 common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.

Hum Mol Genet 2007 Mar 5;16(5):573-8. Epub 2007 Mar 5.

Institut für Humangenetik, Westfalian Wilhelms-University of Münster and University Clinic Münster, Münster, Germany.

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http://academic.oup.com/hmg/article/16/5/573/709076/A-common
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http://dx.doi.org/10.1093/hmg/ddm017DOI Listing
March 2007

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Am J Med Genet A 2006 Jun;140(12):1257-63

Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31265DOI Listing
June 2006

OEIS complex, VATER, and the ongoing difficulties in terminology and delineation.

Authors:
Axel Bohring

Am J Med Genet 2002 Jan;107(1):72-6

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http://dx.doi.org/10.1002/ajmg.10084DOI Listing
January 2002