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ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker–Warburg syndrome

Autor: Trkova, Marie, Krutilkova, Vera, Smetanova, Dagmar, Becvarova, Vera, Hlavova, Eva, Jencikova, Nada, Hodacova, Jana, Hnykova, Lenka, Hroncova, Hana, Horacek, Jiri, Stejskal, David

Publikováno v: In European Journal of Medical Genetics August 2015 58(8):372-375

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A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.

Autor: Soukupova J; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Stastna B; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Laboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Department of Biochemistry, Faculty of Science, Charles University, Prague, Czech Republic., Kanwal M; Laboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic., Hojny J; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Zemankova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Borecka M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Cerna L; Centre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic., Cerna M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Cerna M; Institute of Medical Genetics, University Hospital Pilsen, Pilsen, Czech Republic., Curtisova V; Department of Medical Genetics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Olomouc, Czech Republic., Dolezalova T; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Duskova P; Hospital Ceske Budejovice, Ceske Budejovice, Czech Republic., Foretova L; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic., Havranek O; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; BIOCEV, First Faculty of Medicine, Charles University, Vestec, Czech Republic., Horackova K; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Hovhannisyan M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Hruskova L; Department of Medical Genetics, GHC Genetics, Prague, Czech Republic., Chvojka S; Centre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic., Janatova M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Janikova M; Department of Medical Genetics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Olomouc, Czech Republic., Jelinkova S; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Just P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kalousova M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kleiblova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kosarova M; Department of Medical Genetics, Pronatal, Prague, Czech Republic., Koudova M; Centre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic., Kral J; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Krausova M; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Krutilkova V; Department of Medical Genetics, AGEL Laboratories, AGEL Research and Training Institute, Novy Jicin, Czech Republic., Machackova E; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic., Matejkova K; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Genetics and Microbiology, Faculty of Science, Charles University in Prague, Prague, Czech Republic., Michalovska R; Department of Medical Genetics, GHC Genetics, Prague, Czech Republic., Nehasil P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Nemcova B; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Novotny J; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute for Clinical and Experimental Medicine, Prague, Czech Republic., Palek M; Laboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic., Pesek P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Safarikova M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Scheinost O; Hospital Ceske Budejovice, Ceske Budejovice, Czech Republic., Springer D; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Stolarova L; Laboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic., Stranecky V; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Subrt I; Institute of Medical Genetics, University Hospital Pilsen, Pilsen, Czech Republic., Tavandzis S; Department of Medical Genetics, AGEL Laboratories, AGEL Research and Training Institute, Novy Jicin, Czech Republic., Tureckova E; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Vesela K; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Vlckova Z; Department of Medical Genetics, GHC Genetics, Prague, Czech Republic., Vocka M; Department of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Zima T; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Macurek L; Laboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic., Kleibl Z; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Publikováno v: Cancer medicine [Cancer Med] 2024 Aug; Vol. 13 (16), pp. e70103.