المؤلفون: Norio Niikawa, C. T. R. M. Stumpel, Giuseppe Merla, Nobuhiko Okamoto, Albert E. Chudley, Siddharth Banka, Andrew W. Lindsley, Jaqueline Harris, Olaf Bodamer, Hiroshi Kawame, Margaret P. Adam, Noriko Miyake, Hans T. Bjornsson, Brendan C. Lanpher

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Adam, Mp, Banka, S, Bjornsson, Ht, Bodamer, O, Chudley, Ae, Harris, J, Kawame, H, Lanpher, Bc, Lindsley, Aw, Merla, G, Miyake, N, Okamoto, N, Stumpel, Ct, Niikawa, N

المصدر: Journal of Medical Genetics, 56(2), 89-95. BMJ Publishing Group
Kabuki Syndrome Medical Advisory Board 2018, ' Kabuki syndrome : international consensus diagnostic criteria ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2018-105625

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Consensus, 030105 genetics & heredity, 03 medical and health sciences, Cupped ears, EARS, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, KDM6A, Genetics (clinical), Likely pathogenic, Histone Demethylases, Short columella, MUTATIONS, business.industry, Molecular genetic testing, MAKE-UP-SYNDROME, KMT2D, medicine.disease, Hematologic Diseases, Dermatology, Neoplasm Proteins, DNA-Binding Proteins, 030104 developmental biology, medicine.anatomical_structure, Vestibular Diseases, Long palpebral fissure, Face, Mutation, Muscle Hypotonia, Female, Eyelid, business, Kabuki syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43b63f43aa36b93c742a50f6a383cfa5
https://doi.org/10.1136/jmedgenet-2018-105625

المؤلفون: Ross MM; Evidera Inc, Bethesda, MD, USA., Chung Y; AstraZeneca, Wilmington, DE, USA., Carr T; Asthma and Airways Disease Research Center, University of Arizona, Tucson, AZ, USA., Ambrose CS; AstraZeneca, Wilmington, DE, USA., Lindsley AW; Amgen, Thousand Oaks, CA, USA., Collacott H; Evidera Inc, Bethesda, MD, USA., Schulz A; Evidera Inc, Bethesda, MD, USA., Desai P; Novartis, East Hanover, NJ, USA., Rane P; Amgen, Thousand Oaks, CA, USA., Williams M; Northern Virginia Pulmonary and Critical Care Associates PC, Annadale, VA, USA., Gelhorn HL; Evidera Inc, Bethesda, MD, USA.

المصدر: The Journal of asthma : official journal of the Association for the Care of Asthma [J Asthma] 2024 Jul 15, pp. 1-35. Date of Electronic Publication: 2024 Jul 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8106454 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-4303 (Electronic) Linking ISSN: 02770903 NLM ISO Abbreviation: J Asthma Subsets: MEDLINE

المؤلفون: Carr TF; Asthma and Airway Disease Research Center, University of Arizona, Tucson, AZ, USA., Moore WC; Department of Internal Medicine, Section on Pulmonary, Critical Care, Allergy and Immunologic Diseases, Wake Forest School of Medicine, Winston-Salem, NC, USA., Kraft M; Department of Medicine, Icahn School of Medicine, Mount Sinai Health System, New York, NY, USA., Brusselle G; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium., Castro M; Division of Pulmonary, Critical Care and Sleep Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Chupp GL; Yale Center for Asthma and Airway Disease, Yale School of Medicine, Yale University, New Haven, CT, USA., Wechsler ME; National Jewish Health, Denver, CO, USA., Hunter G; Biometrics, Late-Stage Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK., Lindsley AW; US Medical Affairs, Amgen, Thousand Oaks, CA, USA., Llanos JP; Global Medical Affairs, Amgen, Thousand Oaks, CA, USA., Burke LK; Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK., Chandarana S; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, 1 MedImmune Way, Gaithersburg, MD, 20878, USA., Ambrose CS; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, 1 MedImmune Way, Gaithersburg, MD, 20878, USA. chris.ambrose@astrazeneca.com.

المصدر: Advances in therapy [Adv Ther] 2024 Jul; Vol. 41 (7), pp. 2978-2990. Date of Electronic Publication: 2024 May 27.

نوع المنشور: Journal Article; Randomized Controlled Trial; Clinical Trial, Phase III; Multicenter Study

بيانات الدورية: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE

مواضيع طبية MeSH: Asthma*/drug therapy , Antibodies, Monoclonal, Humanized*/therapeutic use , Anti-Asthmatic Agents*/therapeutic use, Humans ; Male ; Middle Aged ; Female ; Double-Blind Method ; Adult ; Aged ; Adolescent ; Young Adult ; Treatment Outcome ; Aged, 80 and over ; Child ; Severity of Illness Index

المؤلفون: Carr T; Department of Medicine, University of Arizona, Tucson, Ariz., Tkacz J; Inovalon, Bowie, Md. Electronic address: Joseph.Tkacz@inovalon.com., Chung Y; AstraZeneca, Wilmington, Del. Electronic address: yen.chung@astrazeneca.com., Ambrose CS; AstraZeneca, Wilmington, Del., Spahn J; AstraZeneca, Wilmington, Del., Rane P; Amgen, Thousand Oaks, Calif., Wang Y; Amgen, Thousand Oaks, Calif., Lindsley AW; Amgen, Thousand Oaks, Calif., Lewing B; Inovalon, Bowie, Md., Burnette A; Division of Allergy and Immunology, Howard University, Washington, DC.

المصدر: The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2024 Jul; Vol. 12 (7), pp. 1775-1782.e2. Date of Electronic Publication: 2024 Mar 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101597220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-2201 (Electronic) NLM ISO Abbreviation: J Allergy Clin Immunol Pract Subsets: MEDLINE

مواضيع طبية MeSH: Asthma*/drug therapy , Asthma*/epidemiology , Asthma*/therapy, Humans ; United States/epidemiology ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Young Adult ; Hospitalization/statistics & numerical data ; Anti-Asthmatic Agents/therapeutic use ; Child ; Severity of Illness Index ; Healthcare Disparities ; Adrenal Cortex Hormones/therapeutic use ; Aged

المؤلفون: Potter SJ; Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States., Zhang L; McKusick-Nathans Department of Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD, United States., Kotliar M; Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States., Wu Y; Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States., Schafer C; Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States., Stefan K; Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States., Boukas L; McKusick-Nathans Department of Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States., Qu'd D; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States., Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.; The Roya Kabuki Program, Boston Children's Hospital, Boston, MA, United States.; Division of Genetics and Genomics, Broad Institute of MIT and Harvard University, Cambridge, MA, United States., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States., Barski A; Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States., Lindsley AW; Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States., Bjornsson HT; McKusick-Nathans Department of Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Faculty of Medicine, The University of Iceland, Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.

المصدر: Frontiers in immunology [Front Immunol] 2024 May 03; Vol. 15, pp. 1341745. Date of Electronic Publication: 2024 May 03 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation*/genetics , Histone-Lysine N-Methyltransferase*/genetics , Histone-Lysine N-Methyltransferase*/metabolism , Integrins*/metabolism , Integrins*/genetics , Myeloid-Lymphoid Leukemia Protein* , T-Lymphocytes*/immunology , T-Lymphocytes*/metabolism, Animals ; Humans ; Mice ; Abnormalities, Multiple ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Face/abnormalities ; Hematologic Diseases ; Lymphocyte Activation/genetics ; Mice, Inbred C57BL ; Mice, Knockout ; Neoplasm Proteins/genetics ; Neoplasm Proteins/immunology ; Neoplasm Proteins/metabolism ; Signal Transduction ; Vestibular Diseases/genetics ; Vestibular Diseases/immunology ; Vestibular Diseases/metabolism

SCR Disease Name: Kabuki syndrome

المؤلفون: Camargo CA Jr; Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Rane PB; Amgen Inc., Thousand Oaks, California. Electronic address: prane@amgen.com., Beck AF; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio., Wang Y; Amgen Inc., Thousand Oaks, California., Chung Y; AstraZeneca, Gaithersburg, Maryland., McGuiness CB; IQVIA, Plymouth Meeting, Pennsylvania., Llanos JP; Amgen Inc., Thousand Oaks, California., Lindsley AW; Amgen Inc., Thousand Oaks, California., Ambrose CS; AstraZeneca, Gaithersburg, Maryland., Zhou Z; IQVIA, Plymouth Meeting, Pennsylvania., Chang HC; IQVIA, Plymouth Meeting, Pennsylvania., Wade RL; IQVIA, Plymouth Meeting, Pennsylvania.

المصدر: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology [Ann Allergy Asthma Immunol] 2024 May; Vol. 132 (5), pp. 602-609.e4. Date of Electronic Publication: 2023 Dec 22.

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

بيانات الدورية: Publisher: American College of Allergy, Asthma, and Immunology Country of Publication: United States NLM ID: 9503580 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4436 (Electronic) Linking ISSN: 10811206 NLM ISO Abbreviation: Ann Allergy Asthma Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Asthma*/epidemiology , Severity of Illness Index*, Humans ; United States/epidemiology ; Female ; Male ; Middle Aged ; Adult ; Prevalence ; Adolescent ; Child ; Cost of Illness ; Aged ; Young Adult

المؤلفون: Kilpatrick K; Center for Observational Research, Amgen Inc, Thousand Oaks, California. Electronic address: karynsah@amgen.com., Ambrose CS; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, Gaithersburg, Maryland., Lindsley AW; Medical Affairs, Amgen Inc, Thousand Oaks, California., Oppenheimer J; Pulmonary and Allergy Associates, Atlantic Medical Group, Atlantic Health System, Morristown, New Jersey.

المصدر: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology [Ann Allergy Asthma Immunol] 2024 Feb; Vol. 132 (2), pp. 216-222. Date of Electronic Publication: 2023 Oct 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American College of Allergy, Asthma, and Immunology Country of Publication: United States NLM ID: 9503580 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4436 (Electronic) Linking ISSN: 10811206 NLM ISO Abbreviation: Ann Allergy Asthma Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Death Certificates* , Asthma*/epidemiology, Humans ; United States/epidemiology ; Ethnicity ; Health Facilities ; Mortality

المؤلفون: Pavord ID; Respiratory Medicine, NIHR Oxford Biomedical Research Centre, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom. Electronic address: ian.pavord@ndm.ox.ac.uk., Hoyte FCL; Division of Allergy and Immunology, National Jewish Health, Denver, Colorado., Lindsley AW; US Medical Affairs, Amgen, Thousand Oaks, California., Ambrose CS; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, Gaithersburg, Maryland., Spahn JD; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, Wilmington, Delaware., Roseti SL; Late-Stage Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, Maryland., Cook B; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, Gaithersburg, Maryland., Griffiths JM; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, Maryland., Hellqvist Å; Biometrics, Late-stage Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden., Martin N; Biometrics, Late-stage Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Waltham, Massachusetts; Cytel Inc., Waltham, Massachusetts., Llanos JP; Global Medical Affairs, Amgen, Thousand Oaks, California., Martin N; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, Cambridge, United Kingdom; NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester, United Kingdom., Colice G; Late-Stage Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, Maryland., Corren J; David Geffen School of Medicine, University of California, Los Angeles, California.

المصدر: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology [Ann Allergy Asthma Immunol] 2023 Nov; Vol. 131 (5), pp. 587-597.e3. Date of Electronic Publication: 2023 Aug 23.

نوع المنشور: Randomized Controlled Trial; Multicenter Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American College of Allergy, Asthma, and Immunology Country of Publication: United States NLM ID: 9503580 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4436 (Electronic) Linking ISSN: 10811206 NLM ISO Abbreviation: Ann Allergy Asthma Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Anti-Asthmatic Agents*/therapeutic use , Asthma*/drug therapy, Humans ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Seasons ; Antibodies, Monoclonal, Humanized/therapeutic use ; Double-Blind Method

المؤلفون: Burnette A; Division of Allergy and Immunology, Howard University, Washington, DC., Wang Y; Amgen Inc., Thousand Oaks, CA., Rane PB; Amgen Inc., Thousand Oaks, CA., Chung Y; AstraZeneca, Wilmington, DE., Princic N; Merative, Ann Arbor, MI., Park J; Merative, Ann Arbor, MI., Llanos JP; Amgen Inc., Thousand Oaks, CA., Lindsley AW; Amgen Inc., Thousand Oaks, CA., Ambrose CS; AstraZeneca, Wilmington, DE.

المصدر: Journal of managed care & specialty pharmacy [J Manag Care Spec Pharm] 2023 Jul; Vol. 29 (7), pp. 825-834.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academy of Managed Care Pharmacy Country of Publication: United States NLM ID: 101644425 Publication Model: Print Cited Medium: Internet ISSN: 2376-1032 (Electronic) Linking ISSN: 23760540 NLM ISO Abbreviation: J Manag Care Spec Pharm Subsets: MEDLINE

مواضيع طبية MeSH: Asthma*/drug therapy , Asthma*/economics , Patient Acceptance of Health Care*/statistics & numerical data, Adult ; Humans ; Health Care Costs ; Retrospective Studies ; United States

المؤلفون: Corren J; David Geffen School of Medicine, University of California Los Angeles (UCLA), Los Angeles, California, USA., Ambrose CS; Respiratory and Immunology, BioPharmaceuticals Medical, AstraZeneca, Gaithersburg, Maryland, USA., Griffiths JM; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, Maryland, USA., Hellqvist Å; Biometrics, Late-stage Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden., Lindsley AW; US Medical Affairs, Amgen, Thousand Oaks, California, USA., Llanos JP; Global Medical Affairs, Amgen, Thousand Oaks, California, USA., Colice G; Late-stage Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, Maryland, USA., Menzies-Gow A; Royal Brompton and Harefield Hospitals, School of Immunology & Microbial Sciences, King's College, London, UK.

المصدر: Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology [Clin Exp Allergy] 2023 Apr; Vol. 53 (4), pp. 417-428. Date of Electronic Publication: 2022 Dec 12.

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

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8906443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2222 (Electronic) Linking ISSN: 09547894 NLM ISO Abbreviation: Clin Exp Allergy Subsets: MEDLINE

مواضيع طبية MeSH: Anti-Asthmatic Agents*/adverse effects , Asthma*/diagnosis , Asthma*/drug therapy, Humans ; Omalizumab/therapeutic use ; Adrenal Cortex Hormones/therapeutic use ; Double-Blind Method