Heike Olbrich

Heike Olbrich

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Heike Olbrich

Heike Olbrich

Publications by authors named "Heike Olbrich"

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Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of in Humans and Mice.

Circ Genom Precis Med 2019 Oct 22. Epub 2019 Oct 22.

Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.

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http://dx.doi.org/10.1161/CIRCGEN.119.002686DOI Listing
October 2019

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018

DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.

Clin Respir J 2018 Mar 12;12(3):1017-1020. Epub 2017 Mar 12.

Department of Pediatric Pulmonology, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1111/crj.12620DOI Listing
March 2018

Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.

Hum Mutat 2017 08 15;38(8):964-969. Epub 2017 Jun 15.

Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.

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http://dx.doi.org/10.1002/humu.23261DOI Listing
August 2017

Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia.

Pediatr Res 2016 05 13;79(5):731-5. Epub 2016 Jan 13.

Department of General Paediatrics, University Children´s Hospital Muenster, Muenster, Germany.

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http://www.nature.com/articles/pr20168
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http://dx.doi.org/10.1038/pr.2016.8DOI Listing
May 2016

Ciliary function and motor protein composition of human fallopian tubes.

Hum Reprod 2015 Dec 15;30(12):2871-80. Epub 2015 Sep 15.

Pediatric Pulmonology Unit, Department of General Pediatrics, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Geb. A1, D-48149 Muenster, Germany.

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http://dx.doi.org/10.1093/humrep/dev227DOI Listing
December 2015

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

Eur Respir J 2014 Dec 3;44(6):1579-88. Epub 2014 Sep 3.

University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany

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http://dx.doi.org/10.1183/09031936.00052014DOI Listing
December 2014

Habituation of the nociceptive flexion reflex is dependent on inter-stimulus interval and stimulus intensity.

J Clin Neurosci 2013 Jun 6;20(6):848-50. Epub 2013 Apr 6.

Department of Anesthesiology, Charité, Universitätsmedizin Berlin, Klinik für Anästhesiologie m.S. operative Intensivmedizin, Campus Mitte, Charitéplatz 1, Berlin 10117, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868120056
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http://dx.doi.org/10.1016/j.jocn.2012.07.013DOI Listing
June 2013

RPGR mutations might cause reduced orientation of respiratory cilia.

Pediatr Pulmonol 2013 Apr 6;48(4):352-63. Epub 2012 Aug 6.

Department of Molecular and Clinical Genetics, Institute of Human Genetics Polish Academy of Sciences, Poznań, Poland.

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http://dx.doi.org/10.1002/ppul.22632DOI Listing
April 2013

Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma.

Int J Cancer 2011 Nov 25;129(9):2297-303. Epub 2011 Jul 25.

Centre for Biological Systems Analysis (ZBSA), Albert-Ludwigs-University, Freiburg, Germany.

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http://dx.doi.org/10.1002/ijc.25893DOI Listing
November 2011

The molecular basis of aminoacylase 1 deficiency.

Biochim Biophys Acta 2011 Jun 23;1812(6):685-90. Epub 2011 Mar 23.

Labor für Klinische Biochemie & Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.bbadis.2011.03.005DOI Listing
June 2011

ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities.

Eur Arch Otorhinolaryngol 2011 Mar 22;268(3):383-8. Epub 2010 Jul 22.

Department of Otorhinolaryngology Head and Neck Surgery, University Hospital Mannheim, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany.

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http://dx.doi.org/10.1007/s00405-010-1341-9DOI Listing
March 2011

Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease.

Histochem Cell Biol 2009 Aug 21;132(2):199-210. Epub 2009 Apr 21.

Institute for Molecular and Cellular Anatomy, University of Regensburg, Universitätsstrasse 31, 93053, Regensburg, Germany.

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http://link.springer.com/10.1007/s00418-009-0588-y
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http://dx.doi.org/10.1007/s00418-009-0588-yDOI Listing
August 2009

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.

NMR Biomed 2008 Feb;21(2):138-47

Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/nbm.1170DOI Listing
February 2008

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.

Pediatr Res 2006 Mar;59(3):418-22

Department of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany.

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http://dx.doi.org/10.1203/01.pdr.0000200809.21364.e2DOI Listing
March 2006

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.

Am J Respir Cell Mol Biol 2005 Jul 21;33(1):41-7. Epub 2005 Apr 21.

Department of Pediatrics and Adolescent Medicine, Albert-Ludwigs-University, Freiburg, Germany.

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http://dx.doi.org/10.1165/rcmb.2004-0335OCDOI Listing
July 2005

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

Am J Respir Crit Care Med 2005 Jun 4;171(12):1343-9. Epub 2005 Mar 4.

Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1164/rccm.200411-1583OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718478PMC
June 2005

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.

Hum Mol Genet 2004 Sep 21;13(18):2133-41. Epub 2004 Jul 21.

Laboratory of Molecular Biology, Howard Hughes Medical Institute, Rockefeller University, New York, NY 10021, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddh219DOI Listing
September 2004

Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.

Pediatr Nephrol 2003 Jun 6;18(6):498-505. Epub 2003 May 6.

Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1007/s00467-003-1141-1DOI Listing
June 2003