Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.

Autor: Alvarez C; Department for genetics and personalized medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Pediatric Neurology, Avanced Epilepsy Center, Clínica Las Condes, Santiago, Chile., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Paul VG; Institute of Human Genetics, University of Münster, Münster, Germany., Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Gardella E; Department for genetics and personalized medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark., Møller RS; Department for genetics and personalized medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark., Bayat A; Department for genetics and personalized medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark.

Publikováno v: Clinical genetics [Clin Genet] 2023 May; Vol. 103 (5), pp. 566-573. Date of Electronic Publication: 2023 Jan 11.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.

Autor: Weber-Lassalle N; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Borde J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Weber-Lassalle K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Horváth J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany., Arnold N; Institute of Clinical Molecular Biology, Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Kaulfuß S; Institute of Human Genetics, University Medical Center, Georg August University, Goettingen, Germany., Ernst C; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Paul VG; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Honisch E; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany., Klaschik K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rapp S; Preventive Cardiology and Preventive Medicine, Center for Cardiology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany., Lichey N; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Lepkes L; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Pohl-Rescigno E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Larsen M; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Richters L; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Rhiem K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany., Meindl A; Department of Gynaecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany., Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Hahnen E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany. eric.hahnen@uk-koeln.de., Hauke J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

Publikováno v: Breast cancer research : BCR [Breast Cancer Res] 2019 Apr 29; Vol. 21 (1), pp. 55. Date of Electronic Publication: 2019 Apr 29.

Mineralogy and Microbial Diversity of the Microbialites in the Hypersaline Storr's Lake, the Bahamas.

Autor: Paul VG; 1 Department of Geological Sciences, Missouri University of Science and Technology , Rolla, Missouri., Wronkiewicz DJ; 1 Department of Geological Sciences, Missouri University of Science and Technology , Rolla, Missouri., Mormile MR; 2 Department of Biological Sciences, Missouri University of Science and Technology , Rolla, Missouri., Foster JS; 3 Department of Microbiology and Cell Science, University of Florida , Space Life Science Lab, Merritt Island, Florida.

Publikováno v: Astrobiology [Astrobiology] 2016 Apr; Vol. 16 (4), pp. 282-300.

Ability of a haloalkaliphilic bacterium isolated from Soap Lake, Washington to generate electricity at pH 11.0 and 7% salinity.

Autor: Paul VG, Minteer SD, Treu BL, Mormile MR

Publikováno v: Environmental technology [Environ Technol] 2014 Mar-Apr; Vol. 35 (5-8), pp. 1003-11.