Publications by authors named "Helena Malmgren"

24Publications

Paroxysmal Kinesigenic Dyskinesia.

Tremor Other Hyperkinet Mov (N Y) 2017 12;7:529. Epub 2017 Dec 12.

Department of Neurology, Karolinska University Hospital Huddinge, Stockholm, Sweden.

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http://dx.doi.org/10.7916/D8R79N2FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740227PMC
September 2018

Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome.

Reprod Biomed Online 2017 Jun 14;34(6):645-652. Epub 2017 Mar 14.

Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm SE 17176, Sweden.

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http://dx.doi.org/10.1016/j.rbmo.2017.02.013DOI Listing
June 2017

Expanding the ataxia with oculomotor apraxia type 4 phenotype.

Neurol Genet 2016 Feb 21;2(1):e49. Epub 2016 Jan 21.

Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817910PMC
February 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

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment.

PLoS One 2013 4;8(12):e80114. Epub 2013 Dec 4.

Department of Women's and Children's Health, Division of Obstetrics and Gynecology, Karolinska Instituet, Karolinska University Hospital, Stockholm, Sweden.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080114PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851176PMC
September 2014

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

Am J Med Genet A 2014 Feb 5;164A(2):425-31. Epub 2013 Dec 5.

Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre 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/ajmg.a.36307DOI Listing
February 2014

In vivo differentiated human embryonic stem cells can acquire chromosomal aberrations more frequently than in vitro during the same period.

Stem Cells Dev 2012 Dec 3;21(18):3363-71. Epub 2012 Aug 3.

Department of Biosciences and Nutrition, Karolinska Institutet, Novum, Karolinska University Hospital, Huddinge, Stockholm, Sweden.

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http://dx.doi.org/10.1089/scd.2012.0066DOI Listing
December 2012

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.

Am J Med Genet A 2012 May 11;158A(5):1111-7. Epub 2012 Apr 11.

Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.a.35311
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http://dx.doi.org/10.1002/ajmg.a.35311DOI Listing
May 2012

Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?

Fertil Steril 2011 Feb 16;95(2):806-8. Epub 2010 Oct 16.

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

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http://dx.doi.org/10.1016/j.fertnstert.2010.09.022DOI Listing
February 2011

Molecular and clinical characterization of patients with overlapping 10p deletions.

Am J Med Genet A 2010 May;152A(5):1233-43

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

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http://dx.doi.org/10.1002/ajmg.a.33366DOI Listing
May 2010

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.

Pediatr Blood Cancer 2009 Dec;53(6):1143-6

Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/pbc.22131DOI Listing
December 2009

Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review.

Am J Med Genet A 2007 Sep;143A(18):2143-9

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

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http://dx.doi.org/10.1002/ajmg.a.31902DOI Listing
September 2007

[Proposal for ethical guidelines concerning preimplantation genetic diagnosis].

Lakartidningen 2002 Mar;99(14):1568-73

Enheten för klinisk genetik, Sahlgrenska Universitetssjukhuset/Ostra, Göteborg.

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March 2002