Anna Schossig

Anna Schossig

UNVERIFIED PROFILE

Are you Anna Schossig?   Register this Author

Register author
Anna Schossig

Anna Schossig

Publications by authors named "Anna Schossig"

Are you Anna Schossig?   Register this Author

19Publications

423Reads

11Profile Views

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

J Dtsch Dermatol Ges 2019 Jul 23;17(7):742-745. Epub 2019 Apr 23.

Department of Dermatology, Venerology and Allergology, Medical University of Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ddg.13843DOI Listing
July 2019

Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal-rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense-Mutation in SDR9C7.

J Dtsch Dermatol Ges 2019 Jul;17(7):742-745

Universitätsklinik für Dermatologie, Venerologie und Allergologie, Medizinische Universität Innsbruck, Österreich.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ddg.13843_gDOI Listing
July 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

SYNE1-ataxia: Novel genotypic and phenotypic findings.

Parkinsonism Relat Disord 2019 May 11;62:210-214. Epub 2018 Dec 11.

Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2018.12.007DOI Listing
May 2019

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

Fam Cancer 2019 04;18(2):253-260

Laboratory for Molecular Biology and Tumor Cytogenetics, Department of Internal Medicine I, Ordensklinikum Linz Barmherzige Schwestern, Seilerstätte 4, 4010, Linz, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10689-018-0111-5DOI Listing
April 2019

Evidence of mild founder mutations causing nemaline myopathy 10 in Germany and Austria.

Neurology 2018 10 5;91(18):e1690-e1694. Epub 2018 Oct 5.

From the Department of Human Genetics (UA.S., AS.S., S.R.), Department of Pediatrics (M.B.), Medical University Innsbruck, Austria; Department of Pediatrics, Kaiser Franz Josef Hospital, Vienna, Austria (S.W.); Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Germany (St.W., B.S.); Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, Germany (UA.S., AS.S.); Institute of Pathology, SALK-LKH and PMU (Paracelsus Medical University) Salzburg, Austria (WH.M, retired); Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Austria (RE.B., WM.S.).

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006428DOI Listing
October 2018

High risk of peri-implant disease in periodontal Ehlers-Danlos Syndrome. A case series.

Clin Oral Implants Res 2018 Sep 25. Epub 2018 Sep 25.

Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/clr.13373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282529PMC
September 2018

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

Arch Oral Biol 2017 Aug 20;80:222-228. Epub 2017 Apr 20.

Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.archoralbio.2017.04.009DOI Listing
August 2017

Genotype-based databases for variants causing rare diseases.

Gene 2014 Oct 8;550(1):136-40. Epub 2014 Aug 8.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2014.08.016DOI Listing
October 2014

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

J Dtsch Dermatol Ges 2013 Oct 13;11(10):1023-5. Epub 2013 May 13.

Center of Medical Genetics Innsbruck, Medical University of Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ddg.12116DOI Listing
October 2013

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Eur J Hum Genet 2013 Feb 27;21(2):123-33. Epub 2012 Jun 27.

Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2012121
Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548255PMC
February 2013

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.

Eur J Med Genet 2012 May 28;55(5):319-22. Epub 2012 Mar 28.

Division of Human Genetics, Medical University Innsbruck, Schöpfstrasse 41, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.02.008DOI Listing
May 2012