Publications by authors named "Marie-Louise Bondeson"

30Publications

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

BMC Med Genet 2020 05 5;21(1):90. Epub 2020 May 5.

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

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http://dx.doi.org/10.1186/s12881-020-01015-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201657PMC
May 2020

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

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Hum Mutat 2018 09 12;39(9):1262-1272. Epub 2018 Jul 12.

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

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http://dx.doi.org/10.1002/humu.23580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175010PMC
September 2018

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

Key insights into the protein tyrosine phosphatase PTPN11/SHP2 associated with noonan syndrome and cancer.

Hum Mutat 2017 04;38(4):337

Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.

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http://dx.doi.org/10.1002/humu.23084DOI Listing
April 2017

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

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

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):579-87. Epub 2013 Dec 19.

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

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http://dx.doi.org/10.1002/ajmg.a.36313DOI Listing
March 2014

'Congenital' nystagmus may hide various ophthalmic diagnoses.

Acta Ophthalmol 2014 Aug 29;92(5):412-6. Epub 2013 Jul 29.

Department of Neuroscience/Ophthalmology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/aos.12250DOI Listing
August 2014

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Am J Med Genet A 2011 Jun 5;155A(6):1217-24. Epub 2011 May 5.

Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33987DOI Listing
June 2011

Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.

Ophthalmic Genet 2011 Nov 7;32(4):217-27. Epub 2011 Apr 7.

Department of Ophthalmology, Lund University, Sweden.

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http://dx.doi.org/10.3109/13816810.2011.567884DOI Listing
November 2011

Chimerism resulting from parthenogenetic activation and dispermic fertilization.

Am J Med Genet A 2010 Sep;152A(9):2277-86

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33594DOI Listing
September 2010

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Eur J Med Genet 2010 May-Jun;53(3):117-21. Epub 2010 Mar 17.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.001DOI Listing
October 2010

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

Acta Paediatr 2009 Apr 18;98(4):693-8. Epub 2008 Dec 18.

Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/j.1651-2227.2008.01170.xDOI Listing
April 2009

MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

Nucleic Acids Res 2007 6;35(17):e115. Epub 2007 Sep 6.

Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Se-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1093/nar/gkm651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2034490PMC
November 2007

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

Am J Med Genet A 2006 Jun;140(11):1164-71

Unit of Paediatrics, Department of Women and Children's Health, Uppsala University, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.31260DOI Listing
June 2006

The influence of genetic variation in oxidative stress genes on human noise susceptibility.

Hear Res 2005 Apr;202(1-2):87-96

Department of Audiology, Orebro University Hospital, Sweden.

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http://dx.doi.org/10.1016/j.heares.2004.09.005DOI Listing
April 2005

[Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis].

Lakartidningen 2002 Apr;99(16):1804-9

Barnens sjukhus, Huddinge Universitetssjukhus.

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April 2002