المؤلفون: Kiener A; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA. alexander.kiener@bcm.edu., Lantin MRL; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Lawrence EJ; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Morris SA; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Sheth SS; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA.

المصدر: Pediatric cardiology [Pediatr Cardiol] 2024 Jun; Vol. 45 (5), pp. 1154-1156. Date of Electronic Publication: 2024 Jan 31.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/diagnostic imaging , Aortic Stenosis, Supravalvular*/genetics , Elastin*/genetics , Mutation* , Pulmonary Valve Stenosis*/genetics , Pulmonary Valve Stenosis*/diagnostic imaging, Adult ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Ultrasonography, Prenatal

المؤلفون: Zinyandu T; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Knight JH; Department of Epidemiology and Biostatistics, University of Georgia College of Public Health, Athens, Georgia., Thomas AS; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Claxton J; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Montero A; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Shaw FR; Department of Cardiothoracic Surgery, Children's Healthcare of Atlanta, Atlanta, Georgia., Kochilas LK; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia; Children's Healthcare of Atlanta Cardiology, Atlanta, Georgia. Electronic address: lazaros.kochilas@emory.edu.

المصدر: The Annals of thoracic surgery [Ann Thorac Surg] 2024 May; Vol. 117 (5), pp. 965-972. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 15030100R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-6259 (Electronic) Linking ISSN: 00034975 NLM ISO Abbreviation: Ann Thorac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/surgery , Aortic Stenosis, Supravalvular*/congenital , Aortic Stenosis, Supravalvular*/mortality, Humans ; Male ; Female ; Infant ; Child, Preschool ; Treatment Outcome ; Child ; Retrospective Studies ; Cardiac Surgical Procedures/methods ; Registries ; Time Factors ; Follow-Up Studies ; Infant, Newborn ; United States/epidemiology ; Survival Rate/trends

المؤلفون: Chen R; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Cao JF; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Wang ZJ; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Wang C; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Duan JL; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Li C; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Xiao B; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China.

المصدر: Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2024 Mar-Apr; Vol. 52 (3), pp. 315-317. Date of Electronic Publication: 2023 Nov 27.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Subscription Services, Inc Country of Publication: United States NLM ID: 0401663 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0096 (Electronic) Linking ISSN: 00912751 NLM ISO Abbreviation: J Clin Ultrasound Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/complications , Aortic Stenosis, Supravalvular*/diagnostic imaging , Aortic Stenosis, Supravalvular*/surgery , Aortic Valve Insufficiency*/complications , Aortic Valve Insufficiency*/diagnostic imaging , Aortic Valve Insufficiency*/surgery , Aortic Valve Stenosis*, Humans

المؤلفون: Liu D; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Billington CJ Jr; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD.; Department of Pediatrics University of Minnesota Minneapolis MN., Raja N; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Wong ZC; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Levin MD; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Resch W; The High Performance Computing Facility Center for Information Technology, National Institutes of Health Bethesda MD., Alba C; Henry M Jackson Foundation for the Advancement of Military Medicine Bethesda MD., Hupalo DN; Henry M Jackson Foundation for the Advancement of Military Medicine Bethesda MD., Biamino E; Department of Pediatrics University of Turin Italy., Bedeschi MF; Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Medical Genetic Unit Milan Italy., Digilio MC; Medical Genetics Department Bambino Gesù Children's Hospital, IRCCS Rome Italy., Squeo GM; Laboratory of Regulatory and Functional Genomics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (Foggia) Italy., Villa R; Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Medical Genetic Unit Milan Italy., Parrish PCR; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD.; Department of Genome Sciences University of Washington Seattle WA., Knutsen RH; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Osgood S; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Freeman JA; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Dalgard CL; Department of Anatomy, Physiology and Genetics, School of Medicine the Uniformed Services University of the Health Sciences Bethesda MD., Merla G; Laboratory of Regulatory and Functional Genomics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (Foggia) Italy.; Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II Naples Italy., Pober BR; Section of Genetics, Department of Pediatrics Massachusetts General Hospital Boston MA., Mervis CB; Department of Psychological and Brain Sciences University of Louisville Louisville KY., Roberts AE; Department of Cardiology and Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital Boston MA., Morris CA; Department of Pediatrics Kirk Kerkorian School of Medicine at UNLV Las Vegas NV., Osborne LR; Departments of Medicine and Molecular Genetics University of Toronto Canada., Kozel BA; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD.

المصدر: Journal of the American Heart Association [J Am Heart Assoc] 2024 Feb 06; Vol. 13 (3), pp. e031377. Date of Electronic Publication: 2024 Jan 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Williams Syndrome*/genetics , Aortic Stenosis, Supravalvular*/genetics , Aortic Stenosis, Supravalvular*/metabolism , Aortic Stenosis, Supravalvular*/surgery, Humans ; Genome-Wide Association Study ; Proteomics ; Rare Diseases

المؤلفون: Stephens SB; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX.; Department of Epidemiology, Human Genetics & Environmental Sciences, School of Public Health The University of Texas Health Science Center Houston TX., Novy T; Division of Community and General Pediatrics, Department of Pediatrics, McGovern Medical School The University of Texas Health Science Center Houston TX., Spurzem GN; University of Washington Medical Center Seattle WA., Jacob B; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Beecroft T; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Soludczyk E; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Kozel BA; Translational Vascular Medicine Branch National Heart, Lung, and Blood Institute, National Institutes of Health Bethesda MD., Weigand J; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Morris SA; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX.

المصدر: Journal of the American Heart Association [J Am Heart Assoc] 2024 Apr 16; Vol. 13 (8), pp. e034048. Date of Electronic Publication: 2024 Apr 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Williams Syndrome*/diagnosis , Williams Syndrome*/genetics , Williams Syndrome*/surgery , Aortic Stenosis, Supravalvular*/diagnosis , Aortic Stenosis, Supravalvular*/genetics , Aortic Stenosis, Supravalvular*/congenital, Humans ; Retrospective Studies ; Genetic Testing ; Aorta

المؤلفون: Algaze C; Division of Pediatric Cardiology, Lucile Packard Children's Hospital, Stanford University, Palo Alto, California. Electronic address: calgaze@stanford.edu., Chubb H; Division of Pediatric Cardiology, Lucile Packard Children's Hospital, Stanford University, Palo Alto, California., Deitch AM; Division of Pediatric Cardiology, Lucile Packard Children's Hospital, Stanford University, Palo Alto, California., Collins T 2nd; Division of Cardiology, Department of Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky.

المصدر: The American journal of cardiology [Am J Cardiol] 2024 Mar 15; Vol. 215, pp. 50-55. Date of Electronic Publication: 2023 Nov 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Excerpta Medica Country of Publication: United States NLM ID: 0207277 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1913 (Electronic) Linking ISSN: 00029149 NLM ISO Abbreviation: Am J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Williams Syndrome*/complications , Williams Syndrome*/diagnosis , Aortic Stenosis, Supravalvular*/complications , Aortic Stenosis, Supravalvular*/diagnosis , Coronary Artery Disease* , Myocardial Ischemia*/diagnosis , Coronary Stenosis*/diagnosis , Vascular Diseases*, Humans ; Male ; Child ; Infant ; Female ; Retrospective Studies ; Elastin ; Electrocardiography

المؤلفون: Guariento A; Division of Pediatric Cardiac Surgery, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy., Vida VL; Division of Pediatric Cardiac Surgery, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

المصدر: European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery [Eur J Cardiothorac Surg] 2024 Jan 02; Vol. 65 (1).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: Germany NLM ID: 8804069 Publication Model: Print Cited Medium: Internet ISSN: 1873-734X (Electronic) Linking ISSN: 10107940 NLM ISO Abbreviation: Eur J Cardiothorac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/diagnostic imaging , Aortic Stenosis, Supravalvular*/surgery , Aortic Valve Stenosis*/surgery, Humans

المؤلفون: Zhang HY; Department of Cardiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China., Xiao M; Department of Rheumatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430016, China., Zhang Y; Department of Cardiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China. 854804076@qq.com.

المصدر: BMC pediatrics [BMC Pediatr] 2023 Nov 18; Vol. 23 (1), pp. 580. Date of Electronic Publication: 2023 Nov 18.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Hernia, Inguinal*/genetics , Stenosis, Pulmonary Artery* , Aortic Stenosis, Supravalvular*/diagnosis , Aortic Stenosis, Supravalvular*/genetics , Aortic Stenosis, Supravalvular*/metabolism, Male ; Child ; Humans ; Infant ; Elastin/metabolism ; Codon, Nonsense ; Mutation

المؤلفون: Meccanici F; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Notenboom ML; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., Meijssen J; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Smit V; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., van de Woestijne PC; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., van den Bosch AE; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Helbing WA; Department of Paediatrics, Division of Paediatric Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Bogers AJJC; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., Takkenberg JJM; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., Roos-Hesselink JW; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands.

المصدر: European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery [Eur J Cardiothorac Surg] 2024 Jan 02; Vol. 65 (1).

نوع المنشور: Systematic Review; Meta-Analysis; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: Germany NLM ID: 8804069 Publication Model: Print Cited Medium: Internet ISSN: 1873-734X (Electronic) Linking ISSN: 10107940 NLM ISO Abbreviation: Eur J Cardiothorac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/surgery , Heart Valve Prosthesis Implantation*/adverse effects , Aortic Valve Stenosis*, Child ; Adult ; Humans ; Child, Preschool ; Reoperation ; Constriction, Pathologic/etiology ; Treatment Outcome

المؤلفون: Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA Laryssa.huryn@nih.gov., Flaherty T; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Nolen R; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Prasov L; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.; Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Cukras CA; Division of Epidemiology and Clinical Applications, National Eye Institute, NIH, Bethesda, Maryland, USA., Osgood S; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, Bethesda, Maryland, USA., Raja N; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, Bethesda, Maryland, USA., Levin MD; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, Bethesda, Maryland, USA., Vitale S; Division of Epidemiology and Clinical Applications, National Eye Institute, NIH, Bethesda, Maryland, USA., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Kozel BA; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, Bethesda, Maryland, USA.

المصدر: The British journal of ophthalmology [Br J Ophthalmol] 2023 Oct; Vol. 107 (10), pp. 1554-1559. Date of Electronic Publication: 2022 Jun 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Williams Syndrome*/diagnosis , Williams Syndrome*/genetics , Aortic Stenosis, Supravalvular*/genetics, Humans ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Elastin/genetics ; Phenotype ; Tomography, Optical Coherence