Publications by authors named "Maria Wilbe"

14Publications

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Eur J Med Genet 2019 Jun 17;62(6):103526. Epub 2018 Aug 17.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, 75108, Uppsala, Sweden. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183018
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http://dx.doi.org/10.1016/j.ejmg.2018.08.007DOI Listing
June 2019

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Am J Med Genet A 2018 06 16;176(6):1405-1410. Epub 2018 Apr 16.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38691DOI Listing
June 2018

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the and genes.

Hereditas 2017 19;154:16. Epub 2017 Dec 19.

Institute of Hepatology London, Foundation for Liver Research, London,SE5 9NT and Faculty of Life Sciences & Medicine, King´s College London, London, UK.

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http://dx.doi.org/10.1186/s41065-017-0052-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735936PMC
April 2018

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

BMC Med Genet 2015 Oct 14;16:95. Epub 2015 Oct 14.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-015-0239-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607013PMC
October 2015

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.

PLoS Genet 2015 Jun 9;11(6):e1005248. Epub 2015 Jun 9.

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Broad Institute, Cambridge, Cambridge, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461293PMC
June 2015

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

J Med Genet 2015 Mar 22;52(3):195-202. Epub 2015 Jan 22.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2014-102730DOI Listing
March 2015

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.

Nat Genet 2010 Mar 31;42(3):250-4. Epub 2010 Jan 31.

Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Biomedical Centre, Uppsala, Sweden.

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http://dx.doi.org/10.1038/ng.525DOI Listing
March 2010

MHC class II polymorphism is associated with a canine SLE-related disease complex.

Immunogenetics 2009 Aug 28;61(8):557-64. Epub 2009 Jul 28.

Department of Animal Breeding and Genetics, BMC, Swedish University of Agricultural Sciences, Box 597, SE-751 24, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00251-009-0387-6DOI Listing
August 2009