Christian Windpassinger

Christian Windpassinger

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Christian Windpassinger

Christian Windpassinger

Publications by authors named "Christian Windpassinger"

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Long- and short-term association of low-grade systemic inflammation with cardiovascular mortality in the LURIC study.

Clin Res Cardiol 2020 Mar 1;109(3):358-373. Epub 2019 Jul 1.

Division of Molecular Biology and Biochemistry, Gottfried Schatz Research Center, Medical University of Graz, Neue Stiftingtalstrasse 6/VI 21, 8010, Graz, Austria.

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http://dx.doi.org/10.1007/s00392-019-01516-9DOI Listing
March 2020

How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports.

Medicine (Baltimore) 2017 Sep;96(35):e7863

aLudwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital bOrthopedic Hospital of Speising, Pediatric Department, Vienna, Austria cIbn Zohr Institute of Radiology and Imaging studies, Tunis, Tunisia dPediatric Orthopedic Surgery, Children's Hospital of Tunis, Tunis, Tunisia eDepartment of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Saint Petersburg, Russia fAxial Skeleton and Neurosurgery Department, Restorative Traumatology and Orthopaedics, Ilizarov Center, Kurgan, Russia gInstitute of Medical Chemistry, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1097/MD.0000000000007863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585491PMC
September 2017

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

J Invest Dermatol 2017 04 23;137(4):845-854. Epub 2016 Dec 23.

MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358661PMC
April 2017

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.

Ann Hum Genet 2016 Nov;80(6):342-368

Genomic Core Facility, Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha, 3050, Qatar.

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http://dx.doi.org/10.1111/ahg.12176DOI Listing
November 2016

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

Circ Cardiovasc Genet 2016 Apr 1;9(2):130-5. Epub 2016 Mar 1.

From the Emory Genetics Laboratory (Y.X.), Division of Medical Genetics (W.R.W.), Department of Human Genetics, Emory University, Atlanta, GA; Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität, München, Germany (B.S.); Department of Human Genetics, UCLA School of Medicine, CA (A.R.R., S.F.N.); Instituto de Genetica Medica, Hospital Italiano, Montevideo, Uruguay (R.Q., A.V.); Institute of Human Genetics, Medical University of Graz (V.R., C.B., C.W.); and Department for Mathematics and Scientific Computing, Karl-Franzens-University Graz, Graz, Austria (G.S.-T.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838535PMC
April 2016

General movements in genetic disorders: A first look into Cornelia de Lange syndrome.

Dev Neurorehabil 2015 4;18(4):280-2. Epub 2013 Dec 4.

Research Unit iDN - Interdisciplinary Developmental Neuroscience, Center for Physiological Medicine, Institute of Physiology, Medical University of Graz , Graz , Austria .

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http://dx.doi.org/10.3109/17518423.2013.859180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951282PMC
February 2016

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

J Allergy Clin Immunol 2015 May 22;135(5):1384-90.e1-8. Epub 2014 Dec 22.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.10.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429722PMC
May 2015

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.

AJP Rep 2015 Apr 2;5(1):e53-9. Epub 2015 Mar 2.

Division of Pulmonology, Paediatric Department, Medical University of Graz, Graz, Austria.

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http://dx.doi.org/10.1055/s-0035-1545668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502623PMC
April 2015

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.

J Genet 2014 Aug;93(2):527-30

Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa 29050, Pakistan.

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http://dx.doi.org/10.1007/s12041-014-0394-8DOI Listing
August 2014

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Neurogenetics 2014 May 19;15(2):117-27. Epub 2014 Mar 19.

Neurogenetics Section, R-30, The Campbell Family Brain Research Institute, The Centre for Addiction & Mental Health (CAMH), 250 College Street, Toronto, ON, M5T 1R8, Canada.

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http://dx.doi.org/10.1007/s10048-014-0394-0DOI Listing
May 2014

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Am J Med Genet B Neuropsychiatr Genet 2012 Mar 27;159B(2):210-6. Epub 2011 Dec 27.

Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.32015DOI Listing
March 2012

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Eur J Hum Genet 2011 Oct 1;19(10):1038-44. Epub 2011 Jun 1.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190262PMC
October 2011

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

Am J Hum Genet 2009 Apr 2;84(4):519-23. Epub 2009 Apr 2.

Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2009.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667979PMC
April 2009

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Arch Neurol 2007 Jul;64(7):966-70

Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1001/archneur.64.7.966DOI Listing
July 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

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

J Hum Genet 2006 20;51(2):141-146. Epub 2005 Dec 20.

Institute of Medical Biology and Human Genetics, Medical University Graz, Harrachgasse 21/8, 8010, Graz, Austria.

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http://dx.doi.org/10.1007/s10038-005-0333-xDOI Listing
October 2006

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

Eur J Med Genet 2006 Jul-Aug;49(4):338-45. Epub 2005 Nov 28.

Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz 8010, Austria.

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http://dx.doi.org/10.1016/j.ejmg.2005.10.133DOI Listing
September 2006

Membrane topology of the human seipin protein.

FEBS Lett 2006 Apr 27;580(9):2281-4. Epub 2006 Mar 27.

Department of Biochemistry and Biophysics, Stockholm University, SE-10691 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.febslet.2006.03.040DOI Listing
April 2006

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

J Hum Genet 2003 24;48(6):283-287. Epub 2003 Apr 24.

Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria.

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http://dx.doi.org/10.1007/s10038-003-0023-5DOI Listing
February 2004

Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

Hum Genet 2003 Dec 16;114(1):99-109. Epub 2003 Sep 16.

Institute of Medical Biology and Human Genetics, Karl-Franzens University Graz, Harrachgasse 21/8, 8010 Graz, Austria.

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http://link.springer.com/10.1007/s00439-003-1021-6
Publisher Site
http://dx.doi.org/10.1007/s00439-003-1021-6DOI Listing
December 2003

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

Am J Med Genet A 2003 Mar;117A(2):122-6

Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Graz, Austria.

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http://doi.wiley.com/10.1002/ajmg.a.10155
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.10155DOI Listing
March 2003

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.

Gene 2002 Jun;292(1-2):25-31

Institute of Medical Biology and Human Genetics, University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria.

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http://dx.doi.org/10.1016/s0378-1119(02)00649-2DOI Listing
June 2002