Publications by authors named "Giedre Grigelioniene"

41Publications

Skeletal ciliopathies: a pattern recognition approach.

Jpn J Radiol 2020 Mar 21;38(3):193-206. Epub 2020 Jan 21.

Center for Intractable Diseases, Saitama University Hospital, Saitama, Japan.

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http://dx.doi.org/10.1007/s11604-020-00920-wDOI Listing
March 2020

Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length.

Am J Med Genet A 2018 09 27;176(9):1819-1829. Epub 2018 Aug 27.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.a.40356
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http://dx.doi.org/10.1002/ajmg.a.40356DOI Listing
September 2018

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Hum Mutat 2018 10 22;39(10):1456-1467. Epub 2018 Aug 22.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.23605DOI Listing
October 2018

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.

Am J Med Genet A 2018 08 2;176(8):1723-1734. Epub 2018 Aug 2.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.a.38853
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http://dx.doi.org/10.1002/ajmg.a.38853DOI Listing
August 2018

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.

J Bone Miner Res 2018 07 7;33(7):1377-1378. Epub 2018 Jun 7.

Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/jbmr.3460DOI Listing
July 2018

Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics.

Nat Genet 2018 05 16;50(5):657-661. Epub 2018 Apr 16.

David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.

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http://dx.doi.org/10.1038/s41588-018-0104-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5934319PMC
May 2018

Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.

Am J Med Genet A 2017 12 21;173(12):3132-3135. Epub 2017 Oct 21.

Folkhälsan Institute of Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.38491DOI Listing
December 2017

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

J Hum Genet 2017 Apr 26;62(4):503-506. Epub 2017 Jan 26.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.157DOI Listing
April 2017

Autosomal recessive brachyolmia: early radiological findings.

Skeletal Radiol 2016 Nov 21;45(11):1557-60. Epub 2016 Aug 21.

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

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http://dx.doi.org/10.1007/s00256-016-2458-8DOI Listing
November 2016

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

J Bone Miner Res 2016 08 4;31(8):1577-85. Epub 2016 Apr 4.

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

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http://dx.doi.org/10.1002/jbmr.2834DOI Listing
August 2016

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.

Orphanet J Rare Dis 2016 Jan 4;11. Epub 2016 Jan 4.

Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden.

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http://dx.doi.org/10.1186/s13023-015-0380-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700746PMC
January 2016

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Am J Med Genet A 2016 Jan 30;170A(1):266-9. Epub 2015 Sep 30.

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

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http://dx.doi.org/10.1002/ajmg.a.37387DOI Listing
January 2016

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Eur J Hum Genet 2015 Aug 6;23(8):1042-50. Epub 2015 May 6.

1] Department of Medical Sciences, Uppsala University, Uppsala, Sweden [2] Science for Life Laboratory, Department of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden.

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http://dx.doi.org/10.1038/ejhg.2015.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795106PMC
August 2015

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Mol Genet Genomic Med 2014 Sep 14;2(5):402-11. Epub 2014 May 14.

Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet Stockholm, Sweden ; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190875PMC
September 2014

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Am J Med Genet A 2014 Jul 26;164A(7):1635-41. Epub 2014 Mar 26.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.36502DOI Listing
July 2014

The phenotype range of achondrogenesis 1A.

Am J Med Genet A 2013 Oct 16;161A(10):2554-8. Epub 2013 Aug 16.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.36106DOI Listing
October 2013

A case with bladder exstrophy and unbalanced X chromosome rearrangement.

Eur J Pediatr Surg 2014 Aug 25;24(4):353-9. Epub 2013 Jun 25.

Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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https://www.thieme-connect.com/products/ejournals/pdf/10.105
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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1349056
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http://dx.doi.org/10.1055/s-0033-1349056DOI Listing
August 2014

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Eur J Hum Genet 2013 Oct 30;21(10):1085-92. Epub 2013 Jan 30.

1] Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden [2] Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [3] Department of Hand Surgery, Södersjukhuset, Stockholm, Sweden.

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http://www.nature.com/articles/ejhg2012306
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http://dx.doi.org/10.1038/ejhg.2012.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778344PMC
October 2013

Extending the phenotype of lethal skeletal dysplasia type al Gazali.

Am J Med Genet A 2011 Jun 12;155A(6):1404-8. Epub 2011 May 12.

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

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http://dx.doi.org/10.1002/ajmg.a.33990DOI Listing
June 2011

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Am J Med Genet A 2003 Jan;116A(1):61-5

Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1002/ajmg.a.10807DOI Listing
January 2003