Publications by authors named "Susanne Morlot"

24Publications

Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).

Sex Dev 2015 11;9(2):86-90. Epub 2015 Feb 11.

Institute of Human Genetics, University Hospital Münster, Münster, Germany.

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http://dx.doi.org/10.1159/000373906DOI Listing
February 2016

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

Breast Cancer Res Treat 2012 Aug 26;134(3):1229-39. Epub 2012 Apr 26.

Institute of Human Genetics, University Hospital of Schleswig-Holstein, Christian-Albrechts-University of Kiel, Campus Kiel, Arnold-Heller-Str. 10, 24105 Kiel, Germany.

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http://dx.doi.org/10.1007/s10549-012-2050-4DOI Listing
August 2012

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Hum Genet 2005 Sep 14;117(5):485-93. Epub 2005 Jul 14.

Institut für Humangenetik, Klinikum, Universität Mainz, 55101, Mainz, Germany.

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http://dx.doi.org/10.1007/s00439-005-1331-yDOI Listing
September 2005

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy.

Strahlenther Onkol 2003 Nov;179(11):748-53

Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1007/s00066-003-1099-8DOI Listing
November 2003

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.

Hum Mutat 2002 May;19(5):526-35

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.10072DOI Listing
May 2002