Andreas Tzschach

Andreas Tzschach

UNVERIFIED PROFILE

Are you Andreas Tzschach?   Register this Author

Register author
Andreas Tzschach

Andreas Tzschach

Publications by authors named "Andreas Tzschach"

Are you Andreas Tzschach?   Register this Author

100Publications

3712Reads

38Profile Views

Novel truncating PPM1D mutation in a patient with intellectual disability.

Eur J Med Genet 2019 Jan 11;62(1):70-72. Epub 2018 May 11.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.05.006DOI Listing
January 2019

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.

Ophthalmic Genet 2018 10 30;39(5):645-647. Epub 2018 Jul 30.

b Institut für Klinische Genetik , Technische Universität Dresden , Dresden , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2018.1502792DOI Listing
October 2018

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Hum Mol Genet 2018 04;27(8):1343-1352

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddy045DOI Listing
April 2018

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Eur J Paediatr Neurol 2018 Jan 22;22(1):186-189. Epub 2017 Nov 22.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307 Dresden, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.11.003DOI Listing
January 2018

Pierpont syndrome: report of a new patient.

Clin Dysmorphol 2017 Oct;26(4):205-208

aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000184DOI Listing
October 2017

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Arthritis Rheumatol 2017 10 22;69(10):2081-2091. Epub 2017 Aug 22.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Malades, AP-HP Paris, Paris, France, and University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.40179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099183PMC
October 2017

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Am J Med Genet A 2017 Sep 4;173(9):2545-2550. Epub 2017 Aug 4.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38348DOI Listing
September 2017

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Breast Cancer Res Treat 2016 Oct 31;159(3):585-90. Epub 2016 Aug 31.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-016-3956-zDOI Listing
October 2016

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.

Am J Med Genet A 2016 09 3;170(9):2394-9. Epub 2016 Jun 3.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37785DOI Listing
September 2016

Chromosome aberration associated with hippocampal impairment.

Psychiatry Res Neuroimaging 2016 08 2;254:1-2. Epub 2016 Jun 2.

Department of Psychiatry, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09254927163016
Publisher Site
http://dx.doi.org/10.1016/j.pscychresns.2016.05.007DOI Listing
August 2016

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

Clin Dysmorphol 2016 Jul;25(3):106-9

aInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technical University of Dresden bUniversity Center for Rare Diseases, University Clinic Carl Gustav Carus, Dresden cMitteldeutscher Praxisverbund for Human Genetics, Practice in Meerane, Meerane, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000124DOI Listing
July 2016

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

Eur J Paediatr Neurol 2016 Jul 28;20(4):661-5. Epub 2016 Apr 28.

Department of Medical Genetics and Applied Genomics, University of Tübingen, Germany; Rare Disease Center Tübingen, University of Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.04.005DOI Listing
July 2016

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

Am J Med Genet A 2015 Oct 10;167A(10):2406-10. Epub 2015 Jun 10.

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37178DOI Listing
October 2015

Congenital CLN disease in two siblings.

Wien Med Wochenschr 2015 May 10;165(9-10):210-3. Epub 2015 Jun 10.

Department of Pediatrics and Neonatology (Neonatal Intensive Care Unit), University Children´s Hospital of Saarland/Saarland University Hospitals, Building 9, 66421, Homburg, Germany,

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10354-015-0359
Web Search
http://link.springer.com/10.1007/s10354-015-0359-4
Publisher Site
http://dx.doi.org/10.1007/s10354-015-0359-4DOI Listing
May 2015

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia.

Muscle Nerve 2014 Feb 16;49(2):289-92. Epub 2013 Dec 16.

Department of Neurology, Campus Virchow-Klinikum, Charité - University Hospital, Charitéplatz 1, 10117, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24096DOI Listing
February 2014

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Eur J Hum Genet 2013 Dec 1;21(12):1349-55. Epub 2013 May 1.

1] Department of cardiovascular sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium [2] Department of Pediatrics, UZ Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831085PMC
December 2013

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Eur J Hum Genet 2013 Aug 12;21(8):887-90. Epub 2012 Dec 12.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722677PMC
August 2013

12q24.33 deletion: report of a patient with intellectual disability and review of the literature.

Am J Med Genet A 2013 Jun 23;161A(6):1409-13. Epub 2013 Apr 23.

Institute of Human Genetics, University of Tuebingen, and University Children's Hospital, Tuebingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35877DOI Listing
June 2013

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Am J Med Genet A 2013 Jun 30;161A(6):1207-13. Epub 2013 Apr 30.

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35850DOI Listing
June 2013

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

Hum Genet 2013 Apr 18;132(4):461-71. Epub 2013 Jan 18.

Neuroscience Research Center, Charité CrossOver, Charité-Universitaetsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10117 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-012-1260-5DOI Listing
April 2013

Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.

Am J Med Genet A 2013 Apr 12;161A(4):860-4. Epub 2013 Mar 12.

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35778DOI Listing
April 2013

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

Gene 2013 Jan 1;512(2):453-5. Epub 2012 Nov 1.

Department of Pediatric Neurology, Charité, Universitätsmedizin Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2012.10.061DOI Listing
January 2013

Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.

Am J Med Genet A 2012 Oct 10;158A(10):2587-90. Epub 2012 Sep 10.

Institute of Human Genetics, University of Tuebingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35562DOI Listing
October 2012

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.

Am J Med Genet A 2012 Jul 25;158A(7):1709-12. Epub 2012 May 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35398DOI Listing
July 2012

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Am J Med Genet A 2011 Dec 14;155A(12):3067-70. Epub 2011 Oct 14.

Humangenetik Ulm MVZ, Ulm, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34291DOI Listing
December 2011

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

Am J Med Genet A 2011 Nov 19;155A(11):2771-4. Epub 2011 Sep 19.

Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34230DOI Listing
November 2011

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Eur J Pediatr 2010 Dec 27;169(12):1535-9. Epub 2010 Jul 27.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00431-010-1267-7
Publisher Site
http://dx.doi.org/10.1007/s00431-010-1267-7DOI Listing
December 2010

11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.

Am J Med Genet A 2010 Oct;152A(10):2651-5

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33623DOI Listing
October 2010

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

Am J Med Genet A 2009 Feb;149A(2):242-5

Institute of Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32637DOI Listing
February 2009

Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome).

Am J Med Genet A 2009 Feb;149A(4):746-50

Institute of Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32728DOI Listing
February 2009

Czech dysplasia: report of a large family and further delineation of the phenotype.

Am J Med Genet A 2008 Jul;146A(14):1859-64

Institute of Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32389DOI Listing
July 2008

Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Am J Med Genet A 2008 Jan;146A(2):197-203

Max Planck Institute for Molecular Genetics, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32070DOI Listing
January 2008

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

Eur J Hum Genet 2007 Jan 13;15(1):68-75. Epub 2006 Sep 13.

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201714DOI Listing
January 2007

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.

Eur J Hum Genet 2006 Dec 23;14(12):1317-20. Epub 2006 Aug 23.

Department Ropers, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201707DOI Listing
December 2006