Pediatric Acute B-Cell Lymphoblastic Leukemia Developing Following Recent SARS-CoV-2 Infection.

Autor: Leclercq C; Children's Hospital of Geneva., Toutain F; Paediatric Oncology and Hematology Unit., Baleydier F; Paediatric Oncology and Hematology Unit., L'Huillier AG; Paediatric Infectious Diseases Unit., Wagner N; Paediatric Infectious Diseases Unit., Lironi C; Children's Hospital of Geneva., Calza AM; Paediatric Dermatology Unit., Ansari M; Paediatric Oncology and Hematology Unit., Blanchard-Rohner G; Paediatric Immunology and Vaccinology Unit, Geneva University Hospitals and Faculty of Medicine.; Center of Vaccinology, Geneva University Hospitals, Geneva, Switzerland.

Publikováno v: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 Nov 01; Vol. 43 (8), pp. e1177-e1180.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Autor: Wang H; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Humbatova A; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Liu Y; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China., Qin W; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Lee M; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Cesarato N; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Romano MT; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Dai S; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Mo R; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Sivalingam S; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Medical Faculty, 53127 Bonn, Germany; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty, 53127 Bonn, Germany., Motameny S; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Wu Y; Department of Ophthalmology, Peking University First Hospital, Beijing 100034, China., Wang X; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Niu X; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Geng S; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Bornholdt D; Centre for Human Genetics, University of Marburg, 35033 Marburg, Germany., Kroisel PM; Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria., Tadini G; Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy., Walter SD; Retina Consultants, P.C., 43 Woodland Street, Suite 100, Hartford, CT 06105, USA., Hauck F; Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Calza AM; Department of Dermatology and Venereology, Geneva University Hospitals, 1205 Geneva, Switzerland., Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Buness A; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Medical Faculty, 53127 Bonn, Germany; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty, 53127 Bonn, Germany., Yang S; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Sun X; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China., Ma L; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Grzeschik KH; Centre for Human Genetics, University of Marburg, 35033 Marburg, Germany., Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de., Lin Z; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China. Electronic address: zhimiaolin@bjmu.edu.cn.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 34-45. Date of Electronic Publication: 2020 Jun 03.

Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy - a case report and review of the literature.

Autor: Manzocchi Besson S; 1 Division of Angiology and Hemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland., Jastrow Meyer N; 2 Department of Obstetrics and Gynecology, University Hospitals and Faculty of Medicine, Geneva, Switzerland., Bounameaux H; 1 Division of Angiology and Hemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland., La Scala GC; 3 Division of Pediatric Surgery, Department of Pediatrics, University Hospitals and Faculty of Medicine, Geneva, Switzerland., Calza AM; 4 Division of Dermatology and Venerology, University Hospitals and Faculty of Medicine, Geneva, Switzerland., Yilmaz H; 5 Division of Imaging and Medical Information Science, University Hospitals and Faculty of Medicine, Geneva, Switzerland., Righini M; 1 Division of Angiology and Hemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland., Robert-Ebadi H; 1 Division of Angiology and Hemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland.

Publikováno v: VASA. Zeitschrift fur Gefasskrankheiten [Vasa] 2019 May; Vol. 48 (3), pp. 276-280. Date of Electronic Publication: 2018 Dec 10.

[Arteriovenous malformations and its complex management].

Autor: Manzocchi Besson S; Service d'angiologie et d'hémostase, HUG, 1211 Genève 14., Robert-Ebadi H; Service d'angiologie et d'hémostase, HUG, 1211 Genève 14., La Scala G; Service de chirurgie pédiatrique, HUG, 1211 Genève 14., Calza AM; Service de dermatologie et de vénéréologie, HUG, 1211 Genève 14., Yilmaz H; Service de neuroradiologie diagnostique et interventionnelle, HUG, 1211 Genève 14., Modarressi Ghavami SA; Service de chirurgie plastique, reconstructive et esthétique, HUG, 1211 Genève 14., Bounameaux H; Service d'angiologie et d'hémostase, HUG, 1211 Genève 14., Righini M; Service d'angiologie et d'hémostase, HUG, 1211 Genève 14.

Publikováno v: Revue medicale suisse [Rev Med Suisse] 2018 Dec 05; Vol. 14 (630), pp. 2214-2219.

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