Publications by authors named "Bernhard Zabel"

74Publications

Guiding Registry for Skeletal Dysplasia. Rational Approach in Classification.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):102-108

Central German Competence Center for Rare Diseases (MKSE) - Magdeburg, Germany, Fuchsberg 14, 76547 Sinzheim, Germany.

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http://dx.doi.org/10.17458/per.vol15.2017.zas.guidingregistryskeletaldysplasiaDOI Listing
November 2017

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.

Sci Rep 2017 07 25;7(1):6440. Epub 2017 Jul 25.

Laboratory for Experimental Orthopedics, Department of Orthopedic Surgery, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/s41598-017-06809-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527100PMC
July 2017

Against all odds: blended phenotypes of three single-gene defects.

Eur J Hum Genet 2016 08 27;24(9):1274-9. Epub 2016 Jan 27.

Center for Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989199PMC
August 2016

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

J Clin Endocrinol Metab 2015 Feb 11;100(2):E355-9. Epub 2014 Nov 11.

Nemours Children's Clinic (R.C.O.), Jacksonville, Florida 32207; University of Otago (T.C.R.P., E.A.E.), Christchurch 8011, New Zealand; Nemours/Alfred I. duPont Hospital for Children (W.G.M., A.L.D., C.D., M.B.B.), Wilmington, Delaware 19803; University Hospital Freiburg (B.Z.), 79106 Freiburg, Germany; Keio University School of Medicine (T.H.), Tokyo 108-8345, Japan; Nagoya University School of Medicine (H.K.), Nagoya 464-8601, Japan; and University of North Carolina (A.S.A.), Chapel Hill, North Carolina 27599-2100.

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http://dx.doi.org/10.1210/jc.2014-2814DOI Listing
February 2015

What is new in genetics and osteogenesis imperfecta classification?

J Pediatr (Rio J) 2014 Nov-Dec;90(6):536-41. Epub 2014 Jul 18.

Pediatric Clinic, Freiburg University, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.jped.2014.05.003DOI Listing
October 2015

Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease.

J Clin Endocrinol Metab 2013 Aug 20;98(8):3121-6. Epub 2013 Jun 20.

Kinderklinik II, Department of Pediatric Endocrinology, Hufelandstrasse 55, 45122 Essen, Germany.

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http://dx.doi.org/10.1210/jc.2013-1143DOI Listing
August 2013

Clinical Utility Gene Card for: campomelic dysplasia.

Eur J Hum Genet 2013 Jul 10;21(7). Epub 2012 Oct 10.

Institute of Human Genetics, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722939PMC
July 2013

TRPV4-associated skeletal dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):190-204. Epub 2012 Jul 12.

Génétique Médicale, CHUV, Av. Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31335DOI Listing
August 2012

Nosology and classification of genetic skeletal disorders: 2010 revision.

Am J Med Genet A 2011 May 15;155A(5):943-68. Epub 2011 Mar 15.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781PMC
May 2011

Interaction of TGFβ and BMP signaling pathways during chondrogenesis.

PLoS One 2011 Jan 28;6(1):e16421. Epub 2011 Jan 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0016421PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030581PMC
January 2011

Adding efficiency: the role of the CAN ion channels TRPM4 and TRPM5 in pancreatic islets.

Islets 2010 Sep-Oct;2(5):337-8. Epub 2010 Sep 1.

Centre for Paediatrics and Adolescent Medicine, University Medical Centre of the Johannes Guetenberg-University, Mainz, Germany.

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http://dx.doi.org/10.4161/isl.2.5.13140DOI Listing
May 2011

Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.

Cell Mol Life Sci 2011 Jul 30;68(14):2469-80. Epub 2010 Oct 30.

Department of Biomolecular Chemistry, Nijmegen Centre for Molecular Life Sciences, Institute for Molecules and Materials, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00018-010-0568-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121944PMC
July 2011

TRPM5 regulates glucose-stimulated insulin secretion.

Pflugers Arch 2010 Jun;460(1):69-76

Centre for Paediatrics and Adolescent Medicine, University Medical Centre of the Johannes Gutenberg-University Mainz, Obere Zahlbacher Str. 63, 55131 Mainz, Germany.

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http://dx.doi.org/10.1007/s00424-010-0835-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663632PMC
June 2010

Reversible anonymization of DICOM images using automatically generated policies.

Stud Health Technol Inform 2009 ;150:861-5

OFFIS - Institute for Information Technology, 26121 Oldenburg, Germany.

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December 2009

Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo.

J Bone Miner Res 2009 Jun;24(6):1022-32

Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois 60612, USA.

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http://dx.doi.org/10.1359/jbmr.081249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683646PMC
June 2009

Brachy-syndactyly caused by loss of Sfrp2 function.

J Cell Physiol 2008 Oct;217(1):127-37

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/jcp.21483
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http://dx.doi.org/10.1002/jcp.21483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677682PMC
October 2008

Clinical and radiographic delineation of odontochondrodysplasia.

Am J Med Genet A 2008 Mar;146A(6):770-8

Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32214DOI Listing
March 2008

Filamin A mutation is one cause of FG syndrome.

Am J Med Genet A 2007 Aug;143A(16):1876-9

Institute for Human Genetics, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31751DOI Listing
August 2007

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.

Expert Rev Mol Med 2006 Jul 17;8(17):1-19. Epub 2006 Jul 17.

Section of Medical Genetics and Molecular Medicine, Children's Hospital, Johannes-Gutenberg University of Mainz, 55101 Mainz, Germany.

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http://dx.doi.org/10.1017/S1462399406000020DOI Listing
July 2006

RMRP mutations in cartilage-hair hypoplasia.

Am J Med Genet A 2006 Oct;140(19):2121-30

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.31331DOI Listing
October 2006

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hum Mol Genet 2005 Dec 27;14(23):3723-40. Epub 2005 Oct 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddi403DOI Listing
December 2005

Expression profiling of human fetal growth plate cartilage by EST sequencing.

Matrix Biol 2005 Dec 19;24(8):530-8. Epub 2005 Sep 19.

Institute of Human Genetics, Friedrich Alexander University, Erlangen-Nuremberg, Schwabachanlage 10, D-91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.matbio.2005.08.002DOI Listing
December 2005

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Am J Med Genet A 2004 Aug;129A(2):144-8

Department of Pediatrics, Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.30222DOI Listing
August 2004

Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15.5 in hepatoblastoma.

Int J Cancer 2004 Sep;111(4):627-32

Department of Pathology, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, Canada.

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http://doi.wiley.com/10.1002/ijc.20280
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http://dx.doi.org/10.1002/ijc.20280DOI Listing
September 2004

Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets.

Gene Expr Patterns 2004 Jul;4(4):397-405

Department of Pathology and Human Anatomy, Loma Linda University, 24785 Stewart St., Loma Linda, CA 92350, USA.

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http://dx.doi.org/10.1016/j.modgep.2004.01.006DOI Listing
July 2004

TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i.

Proc Natl Acad Sci U S A 2003 Dec 21;100(25):15166-71. Epub 2003 Nov 21.

Children's Hospital, University of Mainz, Langenbeckstrasse 1, D-55101 Mainz, Germany.

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http://dx.doi.org/10.1073/pnas.2334624100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC299937PMC
December 2003

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.

Pediatr Radiol 2003 Nov 5;33(11):786-90. Epub 2003 Sep 5.

Institute of Human Genetics and Children's Hospital, Charité Campus, Humboldt University, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s00247-003-1055-xDOI Listing
November 2003

Grebe dysplasia and the spectrum of CDMP1 mutations.

Pediatr Pathol Mol Med 2003 Jan-Feb;22(1):77-85

Children's Hospital, University of Mainz, Langenbeckstr. 1, D-55101 Mainz, Germany.

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http://dx.doi.org/10.1080/pdp.22.1.77.85DOI Listing
June 2003

Of mice and models: improved animal models for biomedical research.

Physiol Genomics 2002 Dec 3;11(3):115-32. Epub 2002 Dec 3.

Laboratory of Molecular Mouse Genetics, Institute of Toxicology, Johannes Gutenberg-University Mainz, D-55131 Mainz, Germany.

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http://dx.doi.org/10.1152/physiolgenomics.00067.2002DOI Listing
December 2002