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Wyświetlanie 1-10 z 10
Tytuł:
Toxocara Myopericarditis and Cardiac Magnetic Resonance Imaging in a Young Girl.
Autorzy:
Gearhart A; Department of Cardiology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.
Savage TJ; Department of Pediatrics, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.; Division of Infectious Diseases, Boston Children's Hospital, Boston, MA 02115, USA.
Sandora TJ; Department of Pediatrics, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.; Division of Infectious Diseases, Boston Children's Hospital, Boston, MA 02115, USA.
Lamb GS; Department of Pediatrics, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.; Division of Infectious Diseases, Boston Children's Hospital, Boston, MA 02115, USA.
Powell AJ; Department of Cardiology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.
Breitbart RE; Department of Cardiology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.
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Źródło:
Case reports in pediatrics [Case Rep Pediatr] 2021 May 03; Vol. 2021, pp. 5526968. Date of Electronic Publication: 2021 May 03 (Print Publication: 2021).
Typ publikacji:
Case Reports
Raport
Tytuł:
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Autorzy:
Homsy J; Department of Genetics, Harvard Medical School, Boston, MA, USA. Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Zaidi S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Shen Y; Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY, USA.
Ware JS; Department of Genetics, Harvard Medical School, Boston, MA, USA. NIHR Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield NHS Foundation and Trust and Imperial College London, London, UK. National Heart & Lung Institute, Imperial College London, London, UK.
Samocha KE; Department of Genetics, Harvard Medical School, Boston, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston MA, USA.
Karczewski KJ; Department of Genetics, Harvard Medical School, Boston, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston MA, USA.
DePalma SR; Department of Genetics, Harvard Medical School, Boston, MA, USA. Howard Hughes Medical Institute, Harvard University, Boston, MA, USA.
McKean D; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Wakimoto H; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Gorham J; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Deanfield J; Department of Cardiology, University College London and Great Ormond Street Hospital, London, UK.
Giardini A; Department of Cardiology, University College London and Great Ormond Street Hospital, London, UK.
Porter GA Jr; Department of Pediatrics, University of Rochester Medical Center, The School of Medicine and Dentistry, Rochester, NY, USA.
Kim R; Section of Cardiothoracic Surgery, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. Yale Center for Genome Analysis, Yale University, New Haven, CT, USA.
López-Giráldez F; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Tikhonova I; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Mane S; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Romano-Adesman A; Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Qi H; Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY, USA. Department of Applied Physics and Applied Mathematics, Columbia University, New York, NY, USA.
Vardarajan B; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Ma L; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Daly M; Department of Genetics, Harvard Medical School, Boston, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston MA, USA.
Roberts AE; Department of Cardiology, Children's Hospital Boston, Boston, MA, USA.
Russell MW; Division of Pediatric Cardiology, University of Michigan, Ann Arbor, MI, USA.
Mital S; Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Newburger JW; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
Gaynor JW; Department of Pediatric Cardiac Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Breitbart RE; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Ronemus M; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Sanders SJ; Department of Psychiatry, University of California San Francisco, San Francisco, CA, USA.
Kaltman JR; Heart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, NHLBI/NIH, Bethesda, MD, USA.
Seidman JG; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Brueckner M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. .
Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. .
Goldmuntz E; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. .
Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. Howard Hughes Medical Institute, Yale University, New Haven, CT, USA. .
Seidman CE; Department of Genetics, Harvard Medical School, Boston, MA, USA. Howard Hughes Medical Institute, Harvard University, Boston, MA, USA. Cardiovascular Division, Brigham & Women's Hospital, Harvard University, Boston, MA, USA. .
Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA. .
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Źródło:
Science (New York, N.Y.) [Science] 2015 Dec 04; Vol. 350 (6265), pp. 1262-6.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Heart Defects, Congenital/*diagnosis
Heart Defects, Congenital/*genetics
Nervous System Malformations/*genetics
Neurogenesis/*genetics
Brain/abnormalities ; Brain/metabolism ; Child ; Congenital Abnormalities/genetics ; Exome/genetics ; Humans ; Mutation ; Prognosis ; RNA Splicing/genetics ; RNA Splicing Factors ; RNA, Messenger/genetics ; RNA-Binding Proteins/genetics ; Repressor Proteins/genetics ; Transcription, Genetic
Czasopismo naukowe
Tytuł:
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Autorzy:
Greenway SC; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Pereira AC
Lin JC
DePalma SR
Israel SJ
Mesquita SM
Ergul E
Conta JH
Korn JM
McCarroll SA
Gorham JM
Gabriel S
Altshuler DM
Quintanilla-Dieck Mde L
Artunduaga MA
Eavey RD
Plenge RM
Shadick NA
Weinblatt ME
De Jager PL
Hafler DA
Breitbart RE
Seidman JG
Seidman CE
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Źródło:
Nature genetics [Nat Genet] 2009 Aug; Vol. 41 (8), pp. 931-5. Date of Electronic Publication: 2009 Jul 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Dosage*
Genetic Variation*
Tetralogy of Fallot/*genetics
Child, Preschool ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 3/genetics ; Gene Expression Regulation ; Heart Ventricles/metabolism ; Humans ; Phenotype ; Tetralogy of Fallot/pathology
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

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