Publications by authors named "Andreas Dufke"

40Publications

First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study.

Fetal Diagn Ther 2020 2;47(11):841-852. Epub 2020 Sep 2.

Research and Development, Cytogenetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A., Impact Lab Group, Busto Arsizio, Italy.

View Article and Find Full Text PDF
September 2020

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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
December 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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
November 2007

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.

View Article and Find Full Text PDF
February 2002