Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Autor: Willems SPE; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands.; Hemophilia Treatment Center, Nijmegen - Eindhoven - Maastricht, the Netherlands., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Saes JL; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands.; Hemophilia Treatment Center, Nijmegen - Eindhoven - Maastricht, the Netherlands., Weiss M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Rijpma S; Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands., Schoormans S; Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands., Meijer K; Department of Hematology, University Medical Center Groningen, Groningen, the Netherlands., Cnossen MH; Department of Pediatric Hematology and Oncology, Erasmus Medical Centre Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Schutgens REG; Center for Benign Haematology, Thrombosis and Haemostasis, van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, the Netherlands., van Es N; Department of Vascular Medicine, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Pulmonary Hypertension & Thrombosis, Amsterdam, the Netherlands., Nieuwenhuizen L; Hemophilia Treatment Center, Nijmegen - Eindhoven - Maastricht, the Netherlands.; Department of Hematology, Máxima Medical Center Eindhoven, Eindhoven, the Netherlands., den Exter PL; Department of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, the Netherlands., Kruis IC; Netherlands Hemophilia Society, Nijkerk, the Netherlands., Blijlevens NMA; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands., van Heerde WL; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands.; Hemophilia Treatment Center, Nijmegen - Eindhoven - Maastricht, the Netherlands.; Enzyre BV, Novio Tech Campus, Nijmegen, the Netherlands., Schols SEM; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands.; Hemophilia Treatment Center, Nijmegen - Eindhoven - Maastricht, the Netherlands.

Publikováno v: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2024 Jun 17; Vol. 8 (4), pp. 102477. Date of Electronic Publication: 2024 Jun 17 (Print Publication: 2024).

High prevalence of postpartum hemorrhage in women with rare bleeding disorders in the Netherlands: retrospective data from the RBiN study.

Autor: Maas DPMSM; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, The Netherlands., Saes JL; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, The Netherlands., Blijlevens NMA; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands., Cnossen MH; Department of Pediatric Hematology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands., den Exter PL; Department of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, The Netherlands., van der Heijden OWH; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, The Netherlands., Kruis IC; Netherlands Hemophilia Society, Nijkerk, The Netherlands., Meijer K; Department of Hematology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Peters M; Department of Pediatric Hematology, Amsterdam University Medical Centers, Location Emma Children's Hospital, Amsterdam, The Netherlands., Schutgens REG; Center for Benign Hematology, Thrombosis and Hemostasis, Van Creveldkliniek, University Medical Center Utrecht and University Utrecht, Utrecht, The Netherlands., van Heerde WL; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, The Netherlands; Enzyre BV, Novio Tech Campus, Nijmegen, The Netherlands., Nieuwenhuizen L; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, The Netherlands; Department of Hematology, Maxima Medical Center, Eindhoven, The Netherlands., Schols SEM; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, The Netherlands. Electronic address: Saskia.Schols@radboudumc.nl.

Publikováno v: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2023 Mar; Vol. 21 (3), pp. 499-512. Date of Electronic Publication: 2022 Dec 22.

Major differences in clinical presentation, diagnosis and management of men and women with autosomal inherited bleeding disorders.

Autor: Atiq F; Department of Hematology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Saes JL; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, the Netherlands.; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands., Punt MC; Benign Hematology Center, Van Creveldkliniek, University Medical Center Utrecht and University Utrecht, Utrecht, the Netherlands., van Galen KPM; Benign Hematology Center, Van Creveldkliniek, University Medical Center Utrecht and University Utrecht, Utrecht, the Netherlands., Schutgens REG; Benign Hematology Center, Van Creveldkliniek, University Medical Center Utrecht and University Utrecht, Utrecht, the Netherlands., Meijer K; Department of Hematology, University Medical Center Groningen, Groningen, the Netherlands., Cnossen MH; Department of Pediatric Hematology, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Laros-Van Gorkom BAP; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, the Netherlands.; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands., Peters M; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric-Hematology, Amsterdam, the Netherlands., Nieuwenhuizen L; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, the Netherlands.; Department of Hematology, Maxima Medical Center Eindhoven, Eindhoven, the Netherlands., Kruip MJHA; Department of Hematology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., de Meris J; Netherlands Hemophilia Society, Leiden, the Netherlands., van der Bom JG; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.; Jon J van Rood Center for Clinical Transfusion Medicine, Sanquin Research, Leiden, the Netherlands., van der Meer FJM; Department of Internal Medicine, Division of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, the Netherlands., Fijnvandraat K; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric-Hematology, Amsterdam, the Netherlands.; Department of Plasma Proteins, Sanquin Research, Amsterdam, the Netherlands., Kruis IC; Netherlands Hemophilia Society, Leiden, the Netherlands., van Heerde WL; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, the Netherlands.; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands.; Enzyre BV, Novio Tech Campus, Nijmegen, the Netherlands., Eikenboom HCJ; Department of Internal Medicine, Division of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, the Netherlands.; Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, the Netherlands., Leebeek FWG; Department of Hematology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Schols SEM; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, the Netherlands.; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands.

Publikováno v: EClinicalMedicine [EClinicalMedicine] 2021 Jan 29; Vol. 32, pp. 100726. Date of Electronic Publication: 2021 Jan 29 (Print Publication: 2021).

Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB.

Autor: van Bergen MGJM; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Saes JL; Department of Hematology, Radboudumc, Nijmegen, The Netherlands.; Hemophilia Treatment Center Nijmegen - Eindhoven - Maastricht, Nijmegen, The Netherlands., Simons A; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Hebeda KM; Department of Pathology, Radboudumc, Nijmegen, The Netherlands., Henskens YMC; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Central Diagnostic Laboratory, Unit for Hemostasis and Transfusion, Maastricht University Medical Center, Maastricht, The Netherlands., Barteling W; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Huys E; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Laros-van Gorkom BAP; Department of Hematology, Radboudumc, Nijmegen, The Netherlands.; Hemophilia Treatment Center Nijmegen - Eindhoven - Maastricht, Nijmegen, The Netherlands., Schols SEM; Department of Hematology, Radboudumc, Nijmegen, The Netherlands.; Hemophilia Treatment Center Nijmegen - Eindhoven - Maastricht, Nijmegen, The Netherlands., Preijers FW; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Jongmans MCJ; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Jansen JH; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., van der Reijden BA; Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

Publikováno v: American journal of hematology [Am J Hematol] 2020 Jun; Vol. 95 (6), pp. E136-E139. Date of Electronic Publication: 2020 Apr 08.

Pregnancy outcome in afibrinogenemia: Are we giving enough fibrinogen concentrate? A case series.

Autor: Saes JL; Department of Hematology Radboud Universisty Medical Center Nijmegen The Netherlands.; Hemophilia Treatment Center Nijmegen Eindhoven The Netherlands., Laros-van Gorkom BAP; Department of Hematology Radboud Universisty Medical Center Nijmegen The Netherlands.; Hemophilia Treatment Center Nijmegen Eindhoven The Netherlands., Coppens M; Department of Vascular Medicine Amsterdam Cardiovascular Sciences Amsterdam University Medical Centers University of Amsterdam Amsterdam The Netherlands., Schols SEM; Department of Hematology Radboud Universisty Medical Center Nijmegen The Netherlands.; Hemophilia Treatment Center Nijmegen Eindhoven The Netherlands.

Publikováno v: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2020 Jan 22; Vol. 4 (2), pp. 343-346. Date of Electronic Publication: 2020 Jan 22 (Print Publication: 2020).