High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI.

Autor: Cardona Barberán A; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Reddy Guggilla R; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium.; MedGenome Labs Ltd, Narayana Health City, Bengaluru, India., Colenbier C; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Van der Velden E; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Rybouchkin A; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Stoop D; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Leybaert L; Physiology Group, Department of Basic and Applied Medical Sciences, Ghent University, Ghent, Belgium., Coucke P; Department of Biomolecular Medicine, Center for Medical Genetics Ghent (CMGG), Ghent University Hospital, Ghent, Belgium., Symoens S; Department of Biomolecular Medicine, Center for Medical Genetics Ghent (CMGG), Ghent University Hospital, Ghent, Belgium., Boel A; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Vanden Meerschaut F; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Heindryckx B; Ghent-Fertility And Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium.

Publikováno v: Human reproduction open [Hum Reprod Open] 2024 Sep 28; Vol. 2024 (4), pp. hoae057. Date of Electronic Publication: 2024 Sep 28 (Print Publication: 2024).

Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Autor: Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.

Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.

Autor: Guillemyn B; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., De Saffel H; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Bek JW; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Tapaneeyaphan P; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., De Clercq A; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Jarayseh T; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Debaenst S; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Willaert A; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., De Rycke R; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.; VIB Center for Inflammation Research and Bioimaging Core, Ghent, Belgium., Byers PH; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, USA., Rosseel T; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Coucke P; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Blaumeiser B; Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium., Syx D; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Malfait F; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Symoens S; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2023 Nov; Vol. 38 (11), pp. 1718-1730. Date of Electronic Publication: 2023 Sep 30.

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Autor: Senturk L; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Gulec C; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sarac Sivrikoz T; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kayserili H; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey., Kalelioglu IH; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Avci S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey., Has R; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Coucke P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Kalayci T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Karaman B; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Institute of Child Health, Department of Pediatric Basic Sciences, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Toksoy G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Yuksel A; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Basaran S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Tuysuz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical School, Istanbul, Turkey., Altunoglu U; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey., Uyguner ZO; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Publikováno v: Fetal diagnosis and therapy [Fetal Diagn Ther] 2024; Vol. 51 (3), pp. 285-299. Date of Electronic Publication: 2024 Feb 12.

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