Maria Kirchhoff

Maria Kirchhoff

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Maria Kirchhoff

Maria Kirchhoff

Publications by authors named "Maria Kirchhoff"

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Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

Eur J Med Genet 2018 Aug 27;61(8):473-477. Epub 2018 Mar 27.

Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; 3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2018.03.009DOI Listing
August 2018

Development of large-scale manufacturing of adipose-derived stromal cells for clinical applications using bioreactors and human platelet lysate.

Scand J Clin Lab Invest 2018 07 17;78(4):293-300. Epub 2018 Apr 17.

a Cardiology Stem Cell Centre, The Heart Centre, Rigshospitalet Copenhagen University Hospital , Copenhagen , Denmark.

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http://dx.doi.org/10.1080/00365513.2018.1462082DOI Listing
July 2018

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Am J Hum Genet 2018 06 24;102(6):1090-1103. Epub 2018 May 24.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120PMC
June 2018

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

Clin Dysmorphol 2017 Jul;26(3):148-153

aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre bDepartment of Clinical Genetics c3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet dDepartment of Radiology, Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, University of Copenhagen, Copenhagen, Denmark eDepartment of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences.

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http://Insights.ovid.com/crossref?an=00019605-201707000-0000
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http://dx.doi.org/10.1097/MCD.0000000000000182DOI Listing
July 2017

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Am J Med Genet A 2015 Nov 24;167A(11):2731-6. Epub 2015 Jun 24.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.37227DOI Listing
November 2015

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Clin Dysmorphol 2015 Jul;24(3):109-12

aDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet bDepartment of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences c3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet, University of Copenhagen dDepartment of Clinical Genetics, The RAREDIS Database, Section of Rare Diseases, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1097/MCD.0000000000000079DOI Listing
July 2015

CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): a case.

Hum Immunol 2013 Sep 7;74(9):1047-50. Epub 2013 Jun 7.

Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1016/j.humimm.2013.06.002DOI Listing
September 2013

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Am J Med Genet A 2013 Jul 22;161A(7):1594-8. Epub 2013 May 22.

Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est', Hôpital d'Enfants, CHU, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.35970DOI Listing
July 2013

Heart defects and other features of the 22q11 distal deletion syndrome.

Eur J Med Genet 2013 Feb 10;56(2):98-107. Epub 2012 Oct 10.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2012.09.009DOI Listing
February 2013

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Am J Med Genet A 2012 Aug 29;158A(8):1832-6. Epub 2012 Jun 29.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35508
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http://dx.doi.org/10.1002/ajmg.a.35508DOI Listing
August 2012

Maintenance of EGFR and EGFRvIII expressions in an in vivo and in vitro model of human glioblastoma multiforme.

Exp Cell Res 2011 Jul 15;317(11):1513-26. Epub 2011 Apr 15.

Department of Radiation Biology, The Finsen Center, Copenhagen University Hospital, Denmark.

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http://dx.doi.org/10.1016/j.yexcr.2011.04.001DOI Listing
July 2011

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.

Eur J Med Genet 2011 Jan-Feb;54(1):67-72. Epub 2010 Oct 13.

Institute of Human Genetics, University of Bonn, Biomedizinisches Zentrum, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.012DOI Listing
June 2011

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.

Eur J Med Genet 2008 Nov-Dec;51(6):520-6. Epub 2008 Aug 7.

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2008.07.008DOI Listing
March 2009

Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities.

Clin Dysmorphol 2008 Apr;17(2):121-2

Department of Clinical Genetics and Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1097/MCD.0b013e3280fa834eDOI Listing
April 2008

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

Eur J Med Genet 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2007.03.004DOI Listing
September 2007

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.

Eur J Med Genet 2007 Jul-Aug;50(4):256-63. Epub 2007 May 18.

Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK-2100 Copenhagen Ø, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2007.05.001DOI Listing
September 2007

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

Eur J Hum Genet 2007 Jun 28;15(6):711-3. Epub 2007 Mar 28.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 KBH N Copenhagen, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201824DOI Listing
June 2007

Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.

Am J Med Genet A 2007 Mar;143A(6):615-8

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury.

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http://dx.doi.org/10.1002/ajmg.a.31614DOI Listing
March 2007

Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.

Am J Med Genet A 2006 Mar;140(6):644-8

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.31130
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http://dx.doi.org/10.1002/ajmg.a.31130DOI Listing
March 2006

Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection).

Electrophoresis 2005 Nov;26(22):4327-32

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/elps.200500390DOI Listing
November 2005

Polydactyly in a boy with Smith-Magenis syndrome.

Clin Dysmorphol 2005 Oct;14(4):189-90

Pediatric Department, Herning Sygehus, Herning, Denmark.

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http://dx.doi.org/10.1097/00019605-200510000-00004DOI Listing
October 2005

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Hum Genet 2004 Nov 18;115(6):459-67. Epub 2004 Sep 18.

Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

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http://link.springer.com/10.1007/s00439-004-1174-y
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http://dx.doi.org/10.1007/s00439-004-1174-yDOI Listing
November 2004

[Chromosome aberrations in mentally retarded and dysmorphic patients with normal karyotypes].

Ugeskr Laeger 2004 Nov;166(49):4482-5

H:S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling, København.

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November 2004