Siv Fokstuen

Siv Fokstuen

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Siv Fokstuen

Siv Fokstuen

Publications by authors named "Siv Fokstuen"

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21Publications

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Defining categories of actionability for secondary findings in next-generation sequencing.

J Med Ethics 2017 05 30;43(5):346-349. Epub 2016 Dec 30.

Institute for Ethics, History, and the Humanities, University of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1136/medethics-2016-103677DOI Listing
May 2017

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome.

Neuropediatrics 2016 Jan 16;47(1):57-60. Epub 2015 Nov 16.

Pediatric Radiology Unit, University of Geneva Children's Hospital, Switzerland.

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http://dx.doi.org/10.1055/s-0035-1566447DOI Listing
January 2016

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.

Am J Med Genet A 2014 Jun 24;164A(6):1595-605. Epub 2014 Mar 24.

Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36464DOI Listing
June 2014

Next generation diagnostics on cardiomyopathy.

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. Epub 2014 Jan 21.

Genetic Medicine, University Hospitals of Geneva, Switzerland.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044414PMC
June 2014

[Antenatal diagnosis: the revolution of new technologies].

Rev Med Suisse 2014 Jan;10(412-413):49-52

Departement de gynécologie et d'obstétrique et d'obstetrique HUG, 121 Genève 14.

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January 2014

Contamination of amniotic fluid with maternal balanced t(11;22) translocation cells.

Am J Med Genet A 2013 May 26;161A(5):1101-4. Epub 2013 Feb 26.

Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.35774DOI Listing
May 2013

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Proc Natl Acad Sci U S A 2011 Nov 31;108(45):18313-7. Epub 2011 Oct 31.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1073/pnas.1115888108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215002PMC
November 2011

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

Congenit Anom (Kyoto) 2011 Jun;51(2):96-9

Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1111/j.1741-4520.2010.00291.xDOI Listing
June 2011

Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion.

Pediatr Dev Pathol 2010 Sep-Oct;13(5):423-6. Epub 2010 Apr 29.

Division of Clinical Pathology, Geneva University Hospitals, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.2350/09-11-0743-CR.1DOI Listing
February 2011

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

Hum Mutat 2009 Sep;30(9):1355-64

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.21058DOI Listing
September 2009

Prenatal diagnostic indicators of paternal uniparental disomy 14.

Prenat Diagn 2006 Aug;26(8):662-6

Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/pd.1453DOI Listing
August 2006

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.

Am J Med Genet A 2003 Mar;117A(2):143-6

Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.10024DOI Listing
March 2003