Publications by authors named "Anne-Karin Kahlert"

17Publications

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Eur J Med Genet 2020 Oct 23;63(10):104019. Epub 2020 Jul 23.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Germany; Klinik für angeborene Herzfehler und Kinderkardiologie, UKSH, Arnold-Heller-Straße 3, 24109, Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104019DOI Listing
October 2020

Patients with congenital heart defect and their families support genetic heart research.

Congenit Heart Dis 2018 Sep 11;13(5):685-689. Epub 2018 Sep 11.

Department for Congenital Heart Disease and Pediatric Cardiology, DZHK (German Centre for Cardiovascular Research), University Hospital Schleswig-Holstein - Campus Kiel, Germany.

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http://doi.wiley.com/10.1111/chd.12630
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http://dx.doi.org/10.1111/chd.12630DOI Listing
September 2018

Novel truncating PPM1D mutation in a patient with intellectual disability.

Eur J Med Genet 2019 Jan 11;62(1):70-72. Epub 2018 May 11.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.006DOI Listing
January 2019

Pierpont syndrome: report of a new patient.

Clin Dysmorphol 2017 Oct;26(4):205-208

aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000184DOI Listing
October 2017

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Breast Cancer Res Treat 2016 Oct 31;159(3):585-90. Epub 2016 Aug 31.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s10549-016-3956-zDOI Listing
October 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016