Andreas Dufke

Andreas Dufke

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Andreas Dufke

Andreas Dufke

Publications by authors named "Andreas Dufke"

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37Publications

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Novel Variants in Patients with Intellectual Disability.

Mol Syndromol 2019 Jul 3;10(4):195-201. Epub 2019 Apr 3.

Institute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.

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http://dx.doi.org/10.1159/000499060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738162PMC
July 2019

Renal cystic disease and associated ciliopathies.

Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94

aDepartment of Obstetrics and Gynaecology bInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen cDepartment of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1097/GCO.0000000000000348DOI Listing
April 2017

Discordance between ultrasound and cell free DNA screening for monosomy X.

Arch Gynecol Obstet 2016 08 29;294(2):219-24. Epub 2016 Mar 29.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00404-016-4077-yDOI Listing
August 2016

Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome.

Prenat Diagn 2015 Apr 2;35(4):394-9. Epub 2015 Feb 2.

Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/pd.4555DOI Listing
April 2015

Genome-wide UPD screening in patients with intellectual disability.

Eur J Hum Genet 2014 Oct 7;22(10):1233-5. Epub 2014 May 7.

1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169544PMC
October 2014

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.

Bioinformatics 2013 Jun 14;29(12):1562-4. Epub 2013 Apr 14.

Department of Medical Genetics, University of Tübingen, Calwerstr. 7, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btt174DOI Listing
June 2013

Position of the conus medullaris in fetuses with skeletal dysplasia.

Prenat Diagn 2012 Dec 13;32(13):1313-7. Epub 2012 Nov 13.

Department of Obstetrics and Gynaecology, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1002/pd.4005DOI Listing
December 2012

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.

Am J Med Genet A 2012 Jul 25;158A(7):1709-12. Epub 2012 May 25.

Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35398DOI Listing
July 2012

De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature.

Fertil Steril 2011 Nov;96(5):1160-4

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.fertnstert.2011.07.1114DOI Listing
November 2011

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Am J Med Genet A 2011 Feb 28;155A(2):372-9. Epub 2010 Oct 28.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33656DOI Listing
February 2011

Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

J Histochem Cytochem 2007 Nov 26;55(11):1123-8. Epub 2007 Jun 26.

Laboratório de Citogenética e Centro de Neurociência e Biologia Celular, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1369/jhc.7A7244.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957532PMC
November 2007

Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.

Acta Neuropathol 2007 Mar 13;113(3):339-46. Epub 2006 Dec 13.

Institute of Brain Research, Eberhard-Karls University, Medical School, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s00401-006-0179-0DOI Listing
March 2007

Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome.

Am J Med Genet A 2004 Jun;127A(3):291-3

Department of Medical Genetics, University of Tübingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20686DOI Listing
June 2004

Cervical origin of the subclavian artery as a specific marker for monosomy 22q11.

Am J Cardiol 2002 Feb;89(4):481-4

Department of Cardiology, University Children's Hospital, Tuebingen, Germany.

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http://dx.doi.org/10.1016/s0002-9149(01)02279-2DOI Listing
February 2002