المؤلفون: Martínez-Caro J; Servei d'Hematologia Clínica Veterinària, Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain., Agulla B; Servei d'Hematologia Clínica Veterinària, Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain., Viñeta C; Hospital Clínic Veterinari, Universitat Autònoma de Barcelona, Bellaterra, Spain., Roura X; Hospital Clínic Veterinari, Universitat Autònoma de Barcelona, Bellaterra, Spain., Mesalles M; Servei d'Hematologia Clínica Veterinària, Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain., Pastor J; Servei d'Hematologia Clínica Veterinària, Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain.

المصدر: Veterinary clinical pathology [Vet Clin Pathol] 2024 Jun; Vol. 53 (2), pp. 202-208. Date of Electronic Publication: 2024 Apr 15.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: American Society for Veterinary Clinical Pathology Country of Publication: United States NLM ID: 9880575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-165X (Electronic) Linking ISSN: 02756382 NLM ISO Abbreviation: Vet Clin Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia, Lymphocytic, Chronic, B-Cell*/veterinary , Leukemia, Lymphocytic, Chronic, B-Cell*/complications , Dog Diseases*/pathology , Dog Diseases*/diagnosis , Dog Diseases*/drug therapy , Pelger-Huet Anomaly*/veterinary , Pelger-Huet Anomaly*/pathology, Animals ; Dogs ; Male ; Lymphocytosis/veterinary ; Lymphocytosis/pathology ; Leukocytosis/veterinary ; Leukocytosis/pathology

المؤلفون: Hammann N; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Lenz D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Baric I; Department of Paediatrics, University Hospital Center Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Crushell E; National Centre for Inherited Metabolic Disorders, Childrens Health Ireland, Temple Street, Dublin 1, Ireland., Vici CD; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Distelmaier F; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany., Feillet F; Department of Paediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France., Freisinger P; Children's Hospital Reutlingen, Germany., Hempel M; Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany., Khoreva AL; Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology, Immunology Moscow, Russia., Laass MW; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Lacassie Y; Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA., Lainka E; Pediatrics II, Department for Pediatric Nephrology, Gastroenterology, Endocrinology and Transplant Medicine, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Larson-Nath C; Pediatric Gastroenterology, University of Minnesota Medical School, Minneapolis, MN, USA., Li Z; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Lipiński P; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland., Lurz E; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Mégarbané A; Department of Human Genetics Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon; Institut Jérôme Lejeune, Paris, France., Nobre S; Pediatric Hepatology and Liver Transplantation Unit, Pediatric Department, Coimbra Hospital and Universitary Centre, Coimbra, Portugal., Olivieri G; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Peters B; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Prontera P; Medical Genetics Unit, Maternal-Infantile Department, Hospital and University of Perugia, Perugia, Italy., Schlieben LD; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Seroogy CM; Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of Wisconsin-Madison, USA., Sobacchi C; Humanitas Research Hospital IRCCS, Rozzano, Italy; Institute for Genetic and Biomedical Research-National Research Council, Milan Unit, Milan, Italy., Suzuki S; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan., Tran C; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Vockley J; University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Wang JS; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Wagner M; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Prokisch H; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Garbade SF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Kölker S; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Staufner C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Christian.Staufner@med.uni-heidelberg.de.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108118. Date of Electronic Publication: 2024 Jan 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Pelger-Huet Anomaly*/complications , Pelger-Huet Anomaly*/genetics , Pelger-Huet Anomaly*/pathology , Liver Failure, Acute*/genetics , Neuroblastoma*/complications, Humans ; Phenotype ; Mutation, Missense

المؤلفون: Lourdes Frehner B; Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland., Christen M; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Reichler IM; Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland., Jagannathan V; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Novacco M; Clinical Laboratory, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland., Riond B; Clinical Laboratory, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland., Peters LM; Clinical Diagnostic Laboratory, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Suárez Sánchez-Andrade J; Clinic for Diagnostic Imaging, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland., Pieńkowska-Schelling A; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.; Research Platform AgroVet-Strickhof, Vetsuisse Faculty Zurich, University of Zurich, Lindau, Switzerland., Schelling C; Research Platform AgroVet-Strickhof, Vetsuisse Faculty Zurich, University of Zurich, Lindau, Switzerland., Kipar A; Institute of Veterinary Pathology, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland., Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Balogh O; Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland.; Department of Small Animal Clinical Sciences, Virginia-Maryland College of Veterinary Medicine, Blacksburg, Virginia, United States of America.

المصدر: PLoS genetics [PLoS Genet] 2023 Jun 22; Vol. 19 (6), pp. e1010805. Date of Electronic Publication: 2023 Jun 22 (Print Publication: 2023).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Pelger-Huet Anomaly*/genetics, Female ; Pregnancy ; Dogs ; Humans ; Animals ; Receptors, Cytoplasmic and Nuclear/genetics ; Australia ; Granulocytes ; Genotype ; Lamin Type B/genetics ; Receptors, Cell Surface/genetics

المؤلفون: Priglinger CS; University Eye Hospital, Ludwig Maximilians University of Munich, Munich, Germany., Rudolph G; University Eye Hospital, Ludwig Maximilians University of Munich, Munich, Germany., Schmid I; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Mazzola P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Reith M; Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany., Stingl K; Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany., Weisschuh N; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Mar; Vol. 11 (3), pp. e2120. Date of Electronic Publication: 2022 Dec 08.

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

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Pelger-Huet Anomaly*/diagnosis , Pelger-Huet Anomaly*/genetics , Pelger-Huet Anomaly*/pathology , Cone Dystrophy* , Optic Atrophy*/genetics , Liver Failure, Acute*/diagnosis , Liver Failure, Acute*/genetics , Dwarfism*/genetics , Neuroblastoma*, Humans ; Phenotype

المؤلفون: Zini G; Haematology, Catholic University of Sacred Heart, Rome, Italy.; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., d'Onofrio G; Haematology, Catholic University of Sacred Heart, Rome, Italy.

المصدر: British journal of haematology [Br J Haematol] 2023 Feb; Vol. 200 (4), pp. 404-419. Date of Electronic Publication: 2022 Oct 06.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19*/complications , Pelger-Huet Anomaly*/etiology, Humans ; Neutrophils/metabolism ; Monocytes/metabolism ; Killer Cells, Natural

المؤلفون: Li ZD; Departement of Infectious Disease, Children's Hospital of Fudan University, Shanghai 201102, China., Li YC; Departement of Infectious Disease, Children's Hospital of Fudan University, Shanghai 201102, China., Shen CH; Department of General Surgery, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China., Wang JS; Departement of Infectious Disease, Children's Hospital of Fudan University, Shanghai 201102, China., Xie XB; Departement of Infectious Disease, Children's Hospital of Fudan University, Shanghai 201102, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2023 Jan 02; Vol. 61 (1), pp. 66-69.

نوع المنشور: Review; English Abstract; Journal Article

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Optic Atrophy*/genetics , Pelger-Huet Anomaly*/genetics , Liver Failure, Acute*/genetics , Liver Failure, Acute*/surgery , Liver Failure, Acute*/complications, Child ; Male ; Humans ; Female ; Infant ; Child, Preschool ; Retrospective Studies ; Neoplasm Proteins/genetics

المؤلفون: Furci A; Department of Medicine, Section of Dermatology, University of Verona, Verona, Italy., Bruni M, Geat D, Colato C, Girolomoni G, Schena D

المصدر: Dermatology online journal [Dermatol Online J] 2022 Dec 15; Vol. 28 (6). Date of Electronic Publication: 2022 Dec 15.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: University of California, Davis Country of Publication: United States NLM ID: 9610776 Publication Model: Electronic Cited Medium: Internet ISSN: 1087-2108 (Electronic) Linking ISSN: 10872108 NLM ISO Abbreviation: Dermatol Online J Subsets: MEDLINE

مواضيع طبية MeSH: Pelger-Huet Anomaly*/complications , Pelger-Huet Anomaly*/pathology , Primary Myelofibrosis*/complications , Primary Myelofibrosis*/pathology , Pyoderma Gangrenosum*/pathology , Myelodysplastic Syndromes*/complications, Male ; Humans ; Aged ; Granulocytes/pathology

المؤلفون: Franco-Serrano S; Intensive Care Unit. University Son Llàtzer Hospital, Ctra. Manacor PK 4 (Son Ferriol), 07198, Palma, Spain. sarafrancoserrano@gmail.com., Amer-Salas N; Hematology Service. University Son Llàtzer Hospital, Palma, Spain., Nieto-Piñar Y; Intensive Care Unit. University Son Llàtzer Hospital, Ctra. Manacor PK 4 (Son Ferriol), 07198, Palma, Spain., Vázquez-Fernández I; Hematology Service. University Son Llàtzer Hospital, Palma, Spain., Forteza-Cañellas C; Intensive Care Unit. University Son Llàtzer Hospital, Ctra. Manacor PK 4 (Son Ferriol), 07198, Palma, Spain., Rialp-Cervera G; Intensive Care Unit. University Son Llàtzer Hospital, Ctra. Manacor PK 4 (Son Ferriol), 07198, Palma, Spain., Bargay-Lleonart JJ; Hematology Service. University Son Llàtzer Hospital, Palma, Spain.

المصدر: International journal of hematology [Int J Hematol] 2022 Nov; Vol. 116 (5), pp. 807-811. Date of Electronic Publication: 2022 Jun 27.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-3774 (Electronic) Linking ISSN: 09255710 NLM ISO Abbreviation: Int J Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Gram-Negative Bacterial Infections*/etiology , Pelger-Huet Anomaly*/diagnosis , Shock, Septic*/diagnosis , Shock, Septic*/etiology, Humans ; Capnocytophaga ; Culture Media

SCR Organism: Capnocytophaga canimorsus

المؤلفون: Thomas Q; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France. Electronic address: quentin.thomas@chu-dijon.fr., Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Gautier T; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Armed Forces College of Medicine, Cairo, Egypt., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Paccaud J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Girodon F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Biology Division, Department of Biological Hematology, Dijon Hospital, 21000 Dijon, France., Boespflug-Tanguy O; Université Paris Cité, UMR 1141 NeuroDiderot, Inserm, 75019 Paris, France; Service de Neuropédiatrie, reference center for leukodystrophies, APHP, Hopital Robert Debré, 75019 Paris, France., Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Masson A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Denommé-Pichon AS; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., Trochu E; Service de Génétique Médicale, CHU Nantes, Nantes, France., Vignard V; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., El It F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Alkhateeb MA; Women Wellness and Research Center Hamad Medical Corporation, Doha, Qatar., Jamra RA; Institute of Human Genetics, University Medical Center, Leipzig, Germany., Duplomb L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Tisserant E; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Duffourd Y; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK., Saggar A; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK; The Portland Hospital, 205-209 Great Portland St, London W1W 5AH, UK., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA 92093, USA., Sievert D; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Bae H; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kwon K; 3billion, Inc, Seoul, South Korea., Seo GH; 3billion, Inc, Seoul, South Korea., Lee H; 3billion, Inc, Seoul, South Korea., Saeed A; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Anjum N; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Cheema H; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Alawbathani S; CENTOGENE GmbH, 18055 Rostock, Germany., Khan I; CENTOGENE GmbH, 18055 Rostock, Germany., Pinto-Basto J; CENTOGENE GmbH, 18055 Rostock, Germany., Teoh J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Wong J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Sahari UBM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Pannetier M; Service d'Hématologie cellulaire et hémostase bioclinique, CHU Rennes, Rennes, France., Awad MA; Clinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute National Research Centre, Cairo, Egypt., Lesieur-Sebellin M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Amiel J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Delanne J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Faivre L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Odent S; Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Univ Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, CNRS Inserm UMR 6290, ERL 1305, Univ Rennes, Rennes, France., Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany., Thauvin C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de référence maladies rares « déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Reversade B; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore; Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey; Smart-Health Initiative, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Govin J; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Vitobello A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.fr.

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Oct 06; Vol. 109 (10), pp. 1909-1922. Date of Electronic Publication: 2022 Aug 30.

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: Intellectual Disability*/genetics , Musculoskeletal Abnormalities* , Pelger-Huet Anomaly*/genetics, Cell Nucleus/genetics ; Child ; Chromatin ; Humans ; Loss of Heterozygosity

المؤلفون: Laing A; Beatson West of Scotland Cancer Centre, Glasgow, UK., Harper K; Beatson West of Scotland Cancer Centre, Glasgow, UK., Leach M; Beatson West of Scotland Cancer Centre, Glasgow, UK., Bain BJ; Faculty of Medicine, Centre for Haematology, St Mary's Hospital Campus of Imperial College, London, UK.

المصدر: American journal of hematology [Am J Hematol] 2022 Aug; Vol. 97 (8), pp. 1108-1109. Date of Electronic Publication: 2022 Apr 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Neutrophils* , Pelger-Huet Anomaly*, Cell Nucleus ; Humans ; Valproic Acid/adverse effects