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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam, Ghada M H; Hellmuth, Susanne; Gradhand, Elise; Käseberg, Stephan; Winter, Jennifer; Pabst, Ann-Sophie; Eid, Maha M; Thiele, Holger; Nürnberg, Peter; Budde, Birgit S; Toliat, Mohammad Reza; Brecht, Ines B; Schroeder, Christopher; Gschwind, Axel; Ossowski, Stephan; Häuser, Friederike; Rossmann, Heidi; Abdel-Hamid, Mohamed S; Hegazy, Ibrahim; Mohamed, Ahmed G; Schneider, Dominik T; Bertoli-Avella, Aida; Bauer, Peter; Pearring, Jillian N; Pfundt, Rolph; Hoischen, Alexander; Gilissen, Christian; Strand, Dennis; Zechner, Ulrich; Tashkandi, Soha A; Faqeih, Eissa A; Stemmann, Olaf; Strand, Susanne; Bolz, Hanno J.
Affiliation
  • Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Hellmuth S; Chair of Genetics, University of Bayreuth, Bayreuth, Germany.
  • Gradhand E; Senckenberg Institute of Pathology, University Hospital Frankfurt, Frankfurt, Germany.
  • Käseberg S; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.
  • Winter J; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.
  • Pabst AS; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.
  • Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Thiele H; Cologne Center for Genomics and.
  • Nürnberg P; Cologne Center for Genomics and.
  • Budde BS; Center for Molecular Medicine Cologne, University Hospital of Cologne, University of Cologne, Cologne, Germany.
  • Toliat MR; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
  • Brecht IB; Cologne Center for Genomics and.
  • Schroeder C; Cologne Center for Genomics and.
  • Gschwind A; Paediatric Haematology/Oncology, Department of Paediatrics, University Hospital Tübingen, Tübingen, Germany.
  • Ossowski S; Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany.
  • Häuser F; Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany.
  • Rossmann H; Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany.
  • Abdel-Hamid MS; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany.
  • Hegazy I; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany.
  • Mohamed AG; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Schneider DT; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Bertoli-Avella A; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Bauer P; Clinic of Pediatrics, University Witten/Herdecke, Dortmund, Germany.
  • Pearring JN; CENTOGENE GmbH, Rostock, Germany.
  • Pfundt R; CENTOGENE GmbH, Rostock, Germany.
  • Hoischen A; Department of Ophthalmology and Visual Sciences and.
  • Gilissen C; Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.
  • Strand D; Department of Human Genetics and Radboud Institute for Molecular Life Sciences and.
  • Zechner U; Department of Human Genetics and Radboud Institute for Molecular Life Sciences and.
  • Tashkandi SA; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Faqeih EA; Department of Human Genetics and Radboud Institute for Molecular Life Sciences and.
  • Stemmann O; Department of Internal Medicine I, University Medical Center Mainz, Mainz, Germany.
  • Strand S; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.
  • Bolz HJ; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.
JCI Insight ; 8(22)2023 Nov 22.
Article in En | MEDLINE | ID: mdl-37796616
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Brain Diseases / Granulosa Cell Tumor Type of study: Risk_factors_studies Limits: Animals / Female / Humans Language: En Journal: JCI Insight Year: 2023 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Brain Diseases / Granulosa Cell Tumor Type of study: Risk_factors_studies Limits: Animals / Female / Humans Language: En Journal: JCI Insight Year: 2023 Document type: Article Affiliation country: