المؤلفون: Morimoto, M, Yu, Z, Stenzel, P, Clewing, JM, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, JG, Gormley, AK, Saraiva, JM

مصطلحات موضوعية: Doenças Vasculares, Osteocondrodisplasia, Elastina, Enfisema Pulmonar

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1504::60366d38e1aa5c31c8f412fd5cb91de4
https://hdl.handle.net/10400.4/1491

المؤلفون: Morimoto, M, Yu, ZX, Stenzel, P, Clewing, JM, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, JG, Gormley, AK, Parham, DM, Ponniah, U, Andre, JL, Asakura, Y, Basiratnia, M, Bogdanovic, R, Bokenkamp, A, Bonneau, D, Buck, A, Charrow, J, Cochat, P, Cordeiro, I, Deschenes, G, Fenkci, MS, Frange, P, Frund, S, Fryssira, H, Guillen-Navarro, E, Keller, K, Kirmani, S, Kobelka, C, Lamfers, P, Levtchenko, E, Lewis, DB, Massella, L, McLeod, DR, Milford, DV, Nobili, F, Saraiva, JM, Semerci, CN, Shoemaker, L, Stajic, N, Stein, A, Taha, D, Wand, D, Zonana, J, Lucke, T, Boerkoel, CF

مصطلحات موضوعية: Pulmonary emphysema, Schimke immuno-osseous dysplasia, SMARCAL1, Elastin, Vascular disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2702258ce3ba6587e983173a38b00185
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/13721

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المؤلفون: Drennan SE; Section of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Burge KY; Section of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Szyld EG; Section of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Eckert JV; Section of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Mir AM; Section of Cardiology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Gormley AK; Section of Pediatric Critical Care, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Schwartz RM; Department of Anesthesiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Daves SM; Department of Anesthesiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Thompson JL; Department of Cardiovascular Surgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Burkhart HM; Department of Cardiovascular Surgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Chaaban H; Section of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.

المصدر: Journal of clinical medicine [J Clin Med] 2021 Feb 11; Vol. 10 (4). Date of Electronic Publication: 2021 Feb 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

المؤلفون: Morimoto M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child & Family Research Institute, Vancouver, BC, Canada., Myung C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child & Family Research Institute, Vancouver, BC, Canada., Beirnes K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child & Family Research Institute, Vancouver, BC, Canada., Choi K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child & Family Research Institute, Vancouver, BC, Canada., Asakura Y; Department of Endocrinology & Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan., Bokenkamp A; Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands., Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France., Brugnara M; Department of Pediatrics, University of Verona, Verona, Italy., Charrow J; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France., Davis A; Seattle Children's Hospital, Seattle, WA, USA., Deschenes G; Département de Pédiatrie, Hôpital Robert Debré, Paris, France., Gentile M; Department of Medical Genetics, Hospital Di Venere - ASL Bari, Bari, Italy., Giordano M; Pediatric Nephrology and Dialysis Unit, Ospedale Pediatrico Giovanni XXIII, Bari, Italy., Gormley AK; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Govender R; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa., Joseph M; Department of Pediatric Nephrology, Phoenix Children's Hospital, Phoenix, AZ, USA., Keller K; Child Development and Rehabiliation Center, Oregon Institute on Disability & Development, Oregon Health & Science University, Portland, OR, USA., Lerut E; Department of Pathology, University Hospitals Leuven, Leuven, Belgium., Levtchenko E; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Massella L; Division of Nephrology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy., Mayfield C; Warren Clinic Family Medicine, Tulsa, OK, USA., Najafian B; Department of Pathology, University of Washington, Seattle, WA, USA., Parham D; Department of Pathology, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Spranger J; Children's Hospital, University of Mainz, Mainz, Germany., Stenzel P; Department of Pathology, Oregon Health and Science University, Portland, OR, USA., Yis U; Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University, School of Medicine, İzmir, Turkey., Yu Z; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Zonana J; Child Development and Rehabiliation Center, Oregon Institute on Disability & Development, Oregon Health & Science University, Portland, OR, USA., Hendson G; Department of Anatomic Pathology, Children's and Women's Health Centre of British Columbia, Vancouver, BC, Canada., Boerkoel CF; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. cboerkoel@gmail.com.; Child & Family Research Institute, Vancouver, BC, Canada. cboerkoel@gmail.com.; Provincial Medical Genetics Program, Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, 4500 Oak Street, Room C234, Vancouver, BC, V6H 3N1, Canada. cboerkoel@gmail.com.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Nov 05; Vol. 11 (1), pp. 149. Date of Electronic Publication: 2016 Nov 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Arteriosclerosis/*metabolism , Glomerulosclerosis, Focal Segmental/*metabolism , Immunologic Deficiency Syndromes/*metabolism , Kidney Diseases/*metabolism , Nephrotic Syndrome/*metabolism , Osteochondrodysplasias/*metabolism , Pulmonary Embolism/*metabolism , Receptors, Notch/*metabolism , Wnt Proteins/*metabolism, Animals ; Arteriosclerosis/genetics ; Child ; Child, Preschool ; DNA Helicases/genetics ; DNA Helicases/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Fluorescent Antibody Technique, Indirect ; Glomerulosclerosis, Focal Segmental/genetics ; Humans ; Immunologic Deficiency Syndromes/genetics ; Kidney Diseases/genetics ; Male ; Nephrotic Syndrome/genetics ; Osteochondrodysplasias/genetics ; Primary Immunodeficiency Diseases ; Pulmonary Embolism/genetics ; Wnt Proteins/genetics

SCR Disease Name: Schimke immunoosseous dysplasia

المؤلفون: Morimoto M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Child and Family Research Institute, Vancouver, British Columbia, Canada., Wang KJ; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Child and Family Research Institute, Vancouver, British Columbia, Canada., Yu Z; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma., Gormley AK; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma., Parham D; Department of Pathology, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California., Bogdanovic R; Department of Nephrology, Institute of Mother and Child Healthcare of Serbia, Belgrade, Serbia.; Department of Pediatrics, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Lücke T; Department of Neuropediatrics, Children's Hospital, Ruhr-University Bochum, Bochum, Germany., Mayfield C; Warren Clinic, Tulsa, Oklahoma., Weksberg R; Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Hendson G; Department of Anatomic Pathology, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Anatomic Pathology, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada., Boerkoel CF; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Child and Family Research Institute, Vancouver, British Columbia, Canada.

المصدر: Pediatric research [Pediatr Res] 2015 Dec; Vol. 78 (6), pp. 609-17. Date of Electronic Publication: 2015 Aug 26.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

مواضيع طبية MeSH: RNA Processing, Post-Transcriptional* , Transcription, Genetic*, Aorta/*metabolism , Arteriosclerosis/*genetics , Elastin/*genetics , Immunologic Deficiency Syndromes/*genetics , Nephrotic Syndrome/*genetics , Osteochondrodysplasias/*genetics , Pulmonary Embolism/*genetics , RNA Precursors/*genetics , RNA, Messenger/*genetics, Adolescent ; Adult ; Aorta/embryology ; Aorta/pathology ; Arteriosclerosis/embryology ; Arteriosclerosis/metabolism ; Arteriosclerosis/pathology ; Case-Control Studies ; Cells, Cultured ; Child ; Child, Preschool ; DNA Methylation ; Down-Regulation ; Elastin/metabolism ; Female ; Gestational Age ; Humans ; Immunologic Deficiency Syndromes/embryology ; Immunologic Deficiency Syndromes/metabolism ; Immunologic Deficiency Syndromes/pathology ; Male ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Middle Aged ; Nephrotic Syndrome/embryology ; Nephrotic Syndrome/metabolism ; Nephrotic Syndrome/pathology ; Osteochondrodysplasias/embryology ; Osteochondrodysplasias/metabolism ; Osteochondrodysplasias/pathology ; Primary Immunodeficiency Diseases ; Promoter Regions, Genetic ; Pulmonary Embolism/embryology ; Pulmonary Embolism/metabolism ; Pulmonary Embolism/pathology ; RNA Precursors/metabolism ; RNA, Messenger/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism

SCR Disease Name: Schimke immunoosseous dysplasia