Publications by authors named "Ulrich A Schatz"

10Publications

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Am J Hum Genet 2020 08 23;107(2):293-310. Epub 2020 Jul 23.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413889PMC
August 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

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

Am J Med Genet A 2020 04 8;182(4):730-734. Epub 2020 Jan 8.

Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.61478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079147PMC
April 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

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.

Biochim Biophys Acta Mol Cell Res 2019 03 23;1866(3):518-531. Epub 2018 Oct 23.

University Children's Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01674889183047
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http://dx.doi.org/10.1016/j.bbamcr.2018.10.013DOI Listing
March 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

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.

J Inherit Metab Dis 2010 Oct 8;33(5):513-20. Epub 2010 Jun 8.

Dr. von Hauner Children's Hospital, Children's Research Center, Ludwig-Maximilians-Universität München, Munich, Germany.

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http://dx.doi.org/10.1007/s10545-010-9115-5DOI Listing
October 2010