Publications by authors named "Anna Schossig"

22Publications

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1210/clinem/dgaa700DOI Listing
October 2020

Spektrum der Ichthyosen in einer österreichischen Ichthyosekohorte von 2004-2007.

J Dtsch Dermatol Ges 2020 Jan;18(1):17-26

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

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http://dx.doi.org/10.1111/ddg.13968_gDOI Listing
January 2020

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.

J Dtsch Dermatol Ges 2020 Jan 23;18(1):17-25. Epub 2019 Oct 23.

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

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http://dx.doi.org/10.1111/ddg.13968DOI Listing
January 2020

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.

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

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

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

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

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.

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

SYNE1-ataxia: Novel genotypic and phenotypic findings.

Parkinsonism Relat Disord 2019 05 11;62:210-214. Epub 2018 Dec 11.

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

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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.

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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.).

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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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 Nov 8;29(11):1101-1106. Epub 2018 Oct 8.

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

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

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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:

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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.

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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.

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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.

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