المؤلفون: Klever MK; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; RG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, Berlin, Germany., Sträng E; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Hetzel S; Department of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany., Jungnitsch J; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, Berlin, Germany.; Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany., Dolnik A; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Schöpflin R; RG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, Berlin, Germany.; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany., Schrezenmeier JF; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Schick F; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Blau O; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Labor Berlin - Charité Vivantes GmbH, Berlin, Germany., Westermann J; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Labor Berlin - Charité Vivantes GmbH, Berlin, Germany., Rücker FG; Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany., Xia Z; Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany., Döhner K; Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany., Schrezenmeier H; Institute of Transfusion Medicine, University of Ulm, Ulm, Germany.; Institute for Clinical Transfusion Medicine and Immunogenetics, German Red Cross Blood Transfusion Service Baden-Württemberg-Hessen and University Hospital Ulm, Ulm, Germany., Spielmann M; Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany., Meissner A; Department of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany., Melo US; RG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, Berlin, Germany., Mundlos S; RG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, Berlin, Germany.; Labor Berlin - Charité Vivantes GmbH, Berlin, Germany., Bullinger L; Division of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Labor Berlin - Charité Vivantes GmbH, Berlin, Germany.; German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Heidelberg, Germany.

المصدر: Blood advances [Blood Adv] 2023 Nov 14; Vol. 7 (21), pp. 6520-6531.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia, Myeloid, Acute*/diagnosis , Leukemia, Myeloid, Acute*/genetics , Leukemia, Myeloid, Acute*/therapy, Humans ; Abnormal Karyotype ; Chromosome Aberrations ; Mutation ; Genomics ; Ubiquitin-Specific Peptidase 7/genetics

المؤلفون: Melo US; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany. umelo@molgen.mpg.de.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, 13353, Berlin, Germany. umelo@molgen.mpg.de., Jatzlau J; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Prada-Medina CA; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Flex E; Istituto Superiore di Sanità, Department of Oncology and Molecular Medicine, 00161, Rome, Italy., Hartmann S; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Ali S; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Schöpflin R; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Bernardini L; Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, 71013, San Giovanni Rotondo, Foggia, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Moeinzadeh MH; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 14195, Berlin, Germany., Klever MK; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, 13353, Berlin, Germany., Altay A; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 14195, Berlin, Germany., Vallecillo-García P; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Carpentieri G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Delledonne M; Department of Biotechnology, University of Verona, 37129, Verona, Italy., Ort MJ; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany.; Julius Wolff Institute (JWI), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 13353, Berlin, Germany.; BIH Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117, Berlin, Germany., Schwestka M; Institute of Active Polymers, Helmholtz-Zentrum Hereon, 14513, Teltow, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353, Berlin, Germany., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, 10043, Torino, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Brusco A; Department of Medical Sciences, University of Torino, 10126, Torino, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy., Gossen M; Institute of Active Polymers, Helmholtz-Zentrum Hereon, 14513, Teltow, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353, Berlin, Germany., Strunk D; Cell Therapy Institute, Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS), Paracelsus Medical University (PMU), 5020, Salzburg, Austria., Geißler S; Julius Wolff Institute (JWI), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 13353, Berlin, Germany.; BIH Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353, Berlin, Germany., Mundlos S; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, 13353, Berlin, Germany., Stricker S; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Knaus P; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Giorgio E; Department of Molecular Medicine, University of Pavia, 27100, Pavia, Italy. elisa.giorgio@unipv.it.; Medical Genetics Unit, IRCCS Mondino Foundation, 27100, Pavia, Italy. elisa.giorgio@unipv.it., Spielmann M; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany. malte.Spielmann@uksh.de.; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and University of Kiel, Lübeck, 23562, Germany. malte.Spielmann@uksh.de.; DZHK (German Centre for Cardiovascular Research) Germany, partner site Hamburg, Lübeck, Kiel, Lübeck, 23562, Germany. malte.Spielmann@uksh.de.

المصدر: Nature communications [Nat Commun] 2023 Oct 09; Vol. 14 (1), pp. 6301. Date of Electronic Publication: 2023 Oct 09.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Melo US; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany. umelo@molgen.mpg.de.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, 13353, Berlin, Germany. umelo@molgen.mpg.de., Jatzlau J; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Prada-Medina CA; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Flex E; Istituto Superiore di Sanità, Department of Oncology and Molecular Medicine, 00161, Rome, Italy., Hartmann S; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Ali S; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Schöpflin R; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany., Bernardini L; Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, 71013, San Giovanni Rotondo, Foggia, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Moeinzadeh MH; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 14195, Berlin, Germany., Klever MK; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, 13353, Berlin, Germany., Altay A; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 14195, Berlin, Germany., Vallecillo-García P; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Carpentieri G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Delledonne M; Department of Biotechnology, University of Verona, 37129, Verona, Italy., Ort MJ; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany.; Julius Wolff Institute (JWI), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 13353, Berlin, Germany.; BIH Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117, Berlin, Germany., Schwestka M; Institute of Active Polymers, Helmholtz-Zentrum Hereon, 14513, Teltow, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353, Berlin, Germany., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, 10043, Torino, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Brusco A; Department of Medical Sciences, University of Torino, 10126, Torino, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy., Gossen M; Institute of Active Polymers, Helmholtz-Zentrum Hereon, 14513, Teltow, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353, Berlin, Germany., Strunk D; Cell Therapy Institute, Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS), Paracelsus Medical University (PMU), 5020, Salzburg, Austria., Geißler S; Julius Wolff Institute (JWI), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 13353, Berlin, Germany.; BIH Center for Regenerative Therapies (BCRT), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353, Berlin, Germany., Mundlos S; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, 13353, Berlin, Germany., Stricker S; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Knaus P; Freie Universität Berlin, Institute for Chemistry and Biochemistry, 14195, Berlin, Germany., Giorgio E; Department of Molecular Medicine, University of Pavia, 27100, Pavia, Italy. elisa.giorgio@unipv.it.; Medical Genetics Unit, IRCCS Mondino Foundation, 27100, Pavia, Italy. elisa.giorgio@unipv.it., Spielmann M; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195, Berlin, Germany. malte.Spielmann@uksh.de.; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and University of Kiel, Lübeck, 23562, Germany. malte.Spielmann@uksh.de.; DZHK (German Centre for Cardiovascular Research) Germany, partner site Hamburg, Lübeck, Kiel, Lübeck, 23562, Germany. malte.Spielmann@uksh.de.

المصدر: Nature communications [Nat Commun] 2023 Apr 11; Vol. 14 (1), pp. 2034. Date of Electronic Publication: 2023 Apr 11.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Hedgehog Proteins*/metabolism , Ossification, Heterotopic*/metabolism, Female ; Humans ; Connective Tissue/metabolism ; Signal Transduction/physiology ; Transforming Growth Factor beta

المؤلفون: Schöpflin R; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany., Melo US; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., Moeinzadeh H; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany., Heller D; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany., Laupert V; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany., Hertzberg J; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany., Holtgrewe M; CUBI-Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.; Charité-University Medicine Berlin, Berlin, Germany., Alavi N; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany., Klever MK; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., Jungnitsch J; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., Comak E; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany., Türkmen S; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Laboratoire national de santé, Dudelange, Luxembourg., Horn D; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., Duffourd Y; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Department of Genetics and Centres of Reference for rare disorders, developmental abnormalities and intellectual disabilities, FHU TRANSLAD and GIMI Institute, University Hospital Dijon, Dijon, France., Callier P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Sanlaville D; Department of Medical Genetics, University Hospital of Lyon, 69007, Lyon, France., Zuffardi O; Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy., Tenconi R; Genetica Clinica, Dipartimento di Pediatria, Università di Padova, Padova, Italy., Kurtas NE; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Giglio S; Medical Genetics Unit, University of Cagliari, Cagliari, Italy., Prager B; Praxis für Humangenetik, Kinderzentrum Dresden-Friedrichstadt, Dresden, Germany., Latos-Bielenska A; Department of Medical Genetics, University of Medical Sciences in Poznan, Poznan, Poland., Vogel I; Department for Clinical Medicine, Aarhus University, Aarhus, Denmark., Bugge M; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Tommerup N; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Spielmann M; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, 23562 Lübeck, 24105, Kiel, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, 23562, Lübeck, Germany., Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Kalscheuer VM; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany., Vingron M; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany. vingron@molgen.mpg.de., Mundlos S; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany. stefan.mundlos@charite.de.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. stefan.mundlos@charite.de.

المصدر: Nature communications [Nat Commun] 2022 Oct 29; Vol. 13 (1), pp. 6470. Date of Electronic Publication: 2022 Oct 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genome*/genetics , Chromatin*, Humans ; Base Sequence ; Chromosome Mapping ; Germ Cells

المؤلفون: Melo US; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Klever MK; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Schöpflin R; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany., Mensah MA; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Holtgrewe M; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Arbez-Gindre F; Departments of Obstetrics and Gynecology, Pathology, and Biology, University Hospital, University of Franche-Comte, Besançon, France., Martin A; Departments of Obstetrics and Gynecology, Pathology, and Biology, University Hospital, University of Franche-Comte, Besançon, France., Guigue V; Departments of Obstetrics and Gynecology, Pathology, and Biology, University Hospital, University of Franche-Comte, Besançon, France.; Department of Obstetrics and Gynecology, University Hospital Grenoble-Alpes, Grenoble, France., Gaillard D; Department of Obstetrics and Gynecology, University Hospital Grenoble-Alpes, Grenoble, France., Landais E; Department of Obstetrics and Gynecology, University Hospital Grenoble-Alpes, Grenoble, France., Roze V; Departments of Obstetrics and Gynecology, Pathology, and Biology, University Hospital, University of Franche-Comte, Besançon, France., Kremer V; Department of Medical Genetics, University Hospital, University Champagne-Ardennes, Reims, France.; Laboratory of Cytogenetics, University Hospital, University of Strasbourg, Strasbourg, France.; Department of Medical Genetics, University Hospital, Geneva, Switzerland., Ramanah R; Departments of Obstetrics and Gynecology, Pathology, and Biology, University Hospital, University of Franche-Comte, Besançon, France., Cabrol C; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kornak U; Institute of Human Genetics, Universitätsmedizin Göttingen, Göttingen, Germany., Spielmann M; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Mundlos S; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany. stefan.mundlos@charite.de.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. stefan.mundlos@charite.de., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Center of Clinical Investigation (CIC), National Institute of Health and Medical Research (INSERM), CHU, Besançon, France.

المصدر: Human genetics [Hum Genet] 2021 Oct; Vol. 140 (10), pp. 1459-1469. Date of Electronic Publication: 2021 Aug 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Evolution, Molecular*, Abnormalities, Multiple/*genetics , Lung/*abnormalities , Lung/*growth & development , Lung/*ultrastructure , Lung Diseases/*genetics , Organogenesis/*genetics, Adult ; Cadaver ; Female ; Fetus ; Genetic Variation ; Genome, Human ; Humans ; Male ; Pregnancy

SCR Disease Name: Lung agenesis

المؤلفون: Melo US; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Schöpflin R; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Acuna-Hidalgo R; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Mensah MA; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Fischer-Zirnsak B; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Holtgrewe M; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Institute of Health (BIH), Core Unit Bioinformatics, 10117 Berlin, Germany., Klever MK; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Türkmen S; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Heinrich V; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 13353 Berlin, Germany., Pluym ID; Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA., Matoso E; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal; Center of Investigation on Environment Genetics and Oncobiology (iCBR-CIMAGO), Faculty of Medicine, University of Coimbra, 3000-548 Coimbra, Portugal., Bernardo de Sousa S; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal., Louro P; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal; Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil, 1099-023 Lisboa, Portugal; Faculty of Health Sciences, Universidade da Beira Interior, 6201-001 Covilhã, Portugal., Hülsemann W; Handchirurgie Kinderkrankenhaus Wilhelmstift, 22149 Hamburg, Germany., Cohen M; kbo-Kinderzentrum München, 81377 München, Germany., Dufke A; Institut für Medizinische Genetik und Angewandte Genomik, 72076 Tübingen, Germany., Latos-Bieleńska A; Department of Medical Genetics, University of Medical Sciences in Poznan, 60-806 Poznan, Poland; Centers for Medical Genetics GENESIS, Grudzieniec st, 60-601 Poznan, Poland., Vingron M; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 13353 Berlin, Germany., Kalscheuer V; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany., Quintero-Rivera F; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA., Spielmann M; Max Planck Institute for Molecular Genetics, Human Molecular Genomics Group, 13353 Berlin, Germany; Institut für Humangenetik Lübeck, Universität zu Lübeck, 23538 Lübeck, Germany. Electronic address: spielman@molgen.mpg.de., Mundlos S; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address: mundlos@molgen.mpg.de.

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Jun 04; Vol. 106 (6), pp. 872-884. Date of Electronic Publication: 2020 May 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Conformation*, Chromosomes, Human/*genetics , Developmental Disabilities/*genetics , Genome, Human/*genetics , Translocation, Genetic/*genetics, Chromatin Assembly and Disassembly/genetics ; Chromosome Breakpoints ; Cohort Studies ; Humans ; SOX9 Transcription Factor/genetics ; Segmental Duplications, Genomic/genetics

المؤلفون: da Silva MK; Laboratory of Analysis and Histological Processing (LAPHIS), Federal University of Piaui, Parnaiba, PI, Brazil., de Carvalho ACG; Laboratory of Analysis and Histological Processing (LAPHIS), Federal University of Piaui, Parnaiba, PI, Brazil., Alves EHP; Laboratory of Analysis and Histological Processing (LAPHIS), Federal University of Piaui, Parnaiba, PI, Brazil., da Silva FRP; Laboratory of Analysis and Histological Processing (LAPHIS), Federal University of Piaui, Parnaiba, PI, Brazil.; Postgraduate Program in Biomedical Sciences, Federal University of Piaui, Parnaiba, PI, Brazil., Pessoa LDS; Laboratory of Analysis and Histological Processing (LAPHIS), Federal University of Piaui, Parnaiba, PI, Brazil.; Postgraduate Program in Biomedical Sciences, Federal University of Piaui, Parnaiba, PI, Brazil., Vasconcelos DFP; Laboratory of Analysis and Histological Processing (LAPHIS), Federal University of Piaui, Parnaiba, PI, Brazil.; Postgraduate Program in Biomedical Sciences, Federal University of Piaui, Parnaiba, PI, Brazil.; Postgraduate Program in Biotechnology, Federal University of Piaui, Parnaiba, PI, Brazil.; Postgraduate Program in Dentistry, Federal University of Piaui, Teresina, PI, Brazil.

المصدر: International journal of dentistry [Int J Dent] 2017; Vol. 2017, pp. 1914073. Date of Electronic Publication: 2017 Apr 26.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: Egypt NLM ID: 101524183 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1687-8728 (Print) Linking ISSN: 16878728 NLM ISO Abbreviation: Int J Dent Subsets: PubMed not MEDLINE