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Tytuł:
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
Autorzy:
Albizua I; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Department of Pathology, Emory University School of Medicine, Atlanta, Georgia, USA.
Charen K; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Shubeck L; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Talboy A; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Berry-Kravis E; Department of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois, USA.
Kaufmann WE; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Stallworth JL; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Drazba KT; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Erickson CA; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Sweeney JA; Department of Psychiatry, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Tartaglia N; Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Warren SF; Department of Speech-Language-Hearing: Sciences & Disorders, The University of Kansas, Lawrence, Kansas, USA.
Hagerman R; Department of Pediatrics, University of California Davis MIND Institute, Sacramento, California, USA.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Warren ST; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Jin P; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Aug; Vol. 10 (8), pp. e2001. Date of Electronic Publication: 2022 Jul 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Autism Spectrum Disorder*
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/epidemiology
Fragile X Syndrome*/genetics
Mitral Valve Prolapse*
Comorbidity ; Fragile X Mental Retardation Protein/genetics ; Humans ; Seizures/epidemiology ; Seizures/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey.
Autorzy:
Emes D; Department of Infectious Disease Epidemiology, Faculty of Epidemiology and Public Health, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Hüls A; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA.; Gangarosa Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA.
Baumer N; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Dierssen M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, 08003 Barcelona, Spain.; Universitat Pompeu Fabra (UPF), 08002 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
Puri S; Down Syndrome Medical Interest Group UK, Leeds Community Healthcare NHS Trust, Teddington TW11 9PS, UK.
Russell L; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA.
Sherman SL; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.
Strydom A; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London WC2R 2LS, UK.; The London Down Syndrome (LonDownS) Consortium, London WC2R 2LS, UK.; South London and the Maudsley NHS Foundation Trust, London WC2R 2LS, UK.
Bargagna S; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Brandão AC; Hospital Israelita Albert Einstein, ACB, Sao Paulo 05652-900, SP, Brazil.
Costa ACS; Departments of Pediatrics and of Psychiatry, School of Medicine, Case Western Reserve University, ACSC, Cleveland, OH 44106, USA.
Feany PT; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA.
Chicoine BA; Advocate Medical Group, Adult Down Syndrome Center, Park Ridge, IL 60068, USA.
Ghosh S; Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Kolkata 700 073, West Bengal, India.
Rebillat AS; Institut Jérôme Lejeune, 75015 Paris, France.
Sgandurra G; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Valentini D; Pediatric Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Rohrer TR; Division of Pediatric Endocrinology, Saarland University Medical Center, 66421 Homburg/Saar, Germany.
Levin J; Department of Neurology, Ludwig-Maximilians-Universität München, 80539 Munich, Germany.; German Center for Neurodegenerative Diseases, Site Munich, 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.
Lakhanpaul M; Population, Policy and Practice Department, Great Ormond Street Institute of Child Health, UCL, London WC1N 1EH, UK.; Whittington NHS Trust, London N19 5NF, UK.; Down Syndrome Medical Interest Group, Teddington TW11 9PS, UK.
On Behalf Of The Trisomy Research Society Covid-Initiative Study Group
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Źródło:
Journal of clinical medicine [J Clin Med] 2021 Oct 31; Vol. 10 (21). Date of Electronic Publication: 2021 Oct 31.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome.
Autorzy:
Real de Asua D; Adult Down Syndrome Outpatient Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, 28006 Madrid, Spain.; Instituto de Investigación Sanitaria La Princesa, Hospital Universitario de La Princesa, 28006 Madrid, Spain.
Mayer MA; Research Programme on Biomedical Informatics, Hospital del Mar Medical Research Institute, 08003 Barcelona, Spain.; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
Ortega MDC; Department of Psychiatry, Research Institute i+12, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Borrel JM; Down España Huesca, 22005 Huesca, Spain.
Bermejo TJ; Unidad de Neuropediatría, Instituto Hispalense de Pediatría, 41013 Sevilla, Spain.
González-Lamuño D; Department of Pediatrics, University Hospital Marqués de Valdecilla-Universidad de Cantabria, 39008 Santander, Spain.
Manso C; Down España, 28043 Madrid, Spain.
Moldenhauer F; Adult Down Syndrome Outpatient Unit, Department of Internal Medicine, Hospital Universitario de La Princesa, 28006 Madrid, Spain.; Instituto de Investigación Sanitaria La Princesa, Hospital Universitario de La Princesa, 28006 Madrid, Spain.
Carmona-Iragui M; Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain.; Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, 08029 Barcelona, Spain.
Hüls A; Department of Epidemiology and Gangarosa Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA.
Sherman SL; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.
Strydom A; Institute of Psychiatry, Psychology, and Neuroscience, Department of Forensic and Neurodevelopmental Sciences, King's College London, London SE5 8AF, UK.; The London Down Syndrome (LonDownS) Consortium, London, United Kingdom and South London and the Maudsley NHS Foundation Trust, London SE5 8AF, UK.
de la Torre R; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.; Neurosciences Research Programme, Hospital del Mar Medical Research Institute, 08003 Barcelona, Spain.; Biomedical Research Networking Center for Physiopathology of Obesity and Nutrition (CIBEROBN), 08003 Barcelona, Spain.
Dierssen M; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.; Center for Genomic Regulation, The Barcelona Institute for Science and Technology, 08003 Barcelona, Spain.; Biomedical Research Networking Center for Rare Diseases (CIBERER), 08003 Barcelona, Spain.
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Źródło:
Journal of clinical medicine [J Clin Med] 2021 Aug 23; Vol. 10 (16). Date of Electronic Publication: 2021 Aug 23.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Autorzy:
Trevino CE; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Holleman AM; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
Corbitt H; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA.
Maslen CL; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA.
Rosser TC; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Cutler DJ; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Johnston HR; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Rambo-Martin BL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Oberoi J; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Dooley KJ; Sibley Heart Center Cardiology, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.
Capone GT; Kennedy Krieger Institute, Baltimore, MD, USA.
Reeves RH; Department of Physiology and the Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Keavney BD; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Agopian AJ; Human Genetics Center; Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Gruber PJ; Department of Surgery, Yale School of Medicine, New Haven, CT, USA.
O'Brien JE Jr; The Ward Family Heart Center, Section of Cardiac Surgery, Children's Mercy Hospital, Kansas City, MO, USA.
Bittel DC; College of Biosciences, Kansas City University of Medicine and Biosciences, Kansas City, MO, USA.
Wadhwa L; Texas Children's Hospital, Houston, TX, USA.
Cua CL; Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
Moskowitz IP; Departments of Pediatrics, Pathology, and Human Genetics, The University of Chicago, Chicago, IL, USA.
Mulle JG; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Epstein MP; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Zwick ME; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA. .; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jul 20; Vol. 11 (1), pp. 15164. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji:
Published Erratum
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Relationship between Apgar scores and long-term cognitive outcomes in individuals with Down syndrome.
Autorzy:
Del Hoyo Soriano L; Department of Psychiatry and Behavioral Sciences, MIND Institute University of California Davis, Sacramento, CA, USA. .
Rosser TC; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Hamilton DR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Harvey DJ; Department of Psychiatry and Behavioral Sciences, MIND Institute University of California Davis, Sacramento, CA, USA.
Abbeduto L; Department of Psychiatry and Behavioral Sciences, MIND Institute University of California Davis, Sacramento, CA, USA.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
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Źródło:
Scientific reports [Sci Rep] 2021 Jun 16; Vol. 11 (1), pp. 12707. Date of Electronic Publication: 2021 Jun 16.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Apgar Score*
Cognition*
Down Syndrome/*psychology
Adolescent ; Adult ; Child ; Comprehension ; Female ; Humans ; Infant, Newborn ; Male ; Memory ; Neuropsychological Tests ; Vocabulary ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Autorzy:
Trevino CE; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Holleman AM; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
Corbitt H; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA.
Maslen CL; Division of Cardiovascular Medicine and the Heart Research Center, Oregon Health and Science University, Portland, OR, USA.
Rosser TC; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Cutler DJ; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Johnston HR; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Rambo-Martin BL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Oberoi J; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Dooley KJ; Sibley Heart Center Cardiology, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.
Capone GT; Kennedy Krieger Institute, Baltimore, MD, USA.
Reeves RH; Department of Physiology and the Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Keavney BD; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Agopian AJ; Human Genetics Center; Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Gruber PJ; Department of Surgery, Yale School of Medicine, New Haven, CT, USA.
O'Brien JE Jr; The Ward Family Heart Center, Section of Cardiac Surgery, Children's Mercy Hospital, Kansas City, MO, USA.
Bittel DC; College of Biosciences, Kansas City University of Medicine and Biosciences, Kansas City, MO, USA.
Wadhwa L; Texas Children's Hospital, Houston, TX, USA.
Cua CL; Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
Moskowitz IP; Departments of Pediatrics, Pathology, and Human Genetics, The University of Chicago, Chicago, IL, USA.
Mulle JG; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Epstein MP; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Zwick ME; Department of Human Genetics, Emory University School of Medicine, 300 Whitehead Biomedical Research Building, 615 Michael St., Atlanta, GA, 30322, USA. .; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2020 Oct 22; Vol. 10 (1), pp. 18051. Date of Electronic Publication: 2020 Oct 22.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Antigens, Neoplasm*
Cell Cycle Proteins*
Cytoskeletal Proteins*
Genome-Wide Association Study*
Receptor, Notch4*
Down Syndrome/*genetics
Heart Septal Defects/*genetics
Cohort Studies ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Risk ; Whole Genome Sequencing
SCR Disease Name:
Atrioventricular Septal Defect
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.
Autorzy:
Chernus JM; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
Zeng Z; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Hoffman ER; Center for Chromosome Stability, University of Copenhagen, Copenhagen, Denmark.
Hassold TJ; School of Molecular Biosciences and Center for Reproductive Biology, Washington State University, Pullman, Washington, United States of America.
Feingold E; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2019 Dec 12; Vol. 15 (12), pp. e1008414. Date of Electronic Publication: 2019 Dec 12 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Down Syndrome/*genetics
Genome-Wide Association Study/*methods
Nondisjunction, Genetic/*genetics
Aurora Kinase C/genetics ; Cation Transport Proteins/genetics ; Child ; Down Syndrome/ethnology ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Meiosis ; Mothers ; Oocytes ; United States/ethnology ; Vascular Endothelial Growth Factor A/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome.
Autorzy:
Channell MM; Department of Speech and Hearing Science, University of Illinois at Urbana-Champaign, 901 S. Sixth St., Champaign, IL, 61820, USA. .
Hahn LJ; Department of Speech and Hearing Science, University of Illinois at Urbana-Champaign, 901 S. Sixth St., Champaign, IL, 61820, USA.
Rosser TC; Department of Human Genetics, Emory University, 615 Michael St, Whitehead Bldg, Atlanta, GA, 30322, USA.
Hamilton D; Department of Human Genetics, Emory University, 615 Michael St, Whitehead Bldg, Atlanta, GA, 30322, USA.
Frank-Crawford MA; Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD, 21205, USA.
Capone GT; Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD, 21205, USA.
Sherman SL; Department of Human Genetics, Emory University, 615 Michael St, Whitehead Bldg, Atlanta, GA, 30322, USA.
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Corporate Authors:
Down Syndrome Cognition Project
Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2019 Sep; Vol. 49 (9), pp. 3543-3556.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder/*epidemiology
Down Syndrome/*epidemiology
Adaptation, Psychological ; Adolescent ; Adult ; Child ; Down Syndrome/psychology ; Female ; Humans ; Intelligence ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
Autorzy:
Rambo-Martin BL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Mulle JG; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia 30322.
Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Bean LJH; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Rosser TC; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Dooley KJ; Department of Pediatrics, Sibley Heart Center Cardiology, Children's Healthcare of Atlanta, Atlanta, Georgia 30033.
Cua C; Heart Center, Nationwide Children's Hospital, Columbus, Ohio 43205.
Capone G; Kennedy Krieger Institute, Baltimore, Maryland 21205.
Maslen CL; Knight Cardiovascular Institute, Oregon Health & Science University, Portland, Oregon 97239.; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon 97239.
Reeves RH; Department of Physiology, School of Medicine, Johns Hopkins University, Baltimore, Maryland 21205.; McKusick Nathans Institute for Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland 21205.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Zwick ME; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322 .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2018 Jan 04; Vol. 8 (1), pp. 105-111. Date of Electronic Publication: 2018 Jan 04.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Mutation*
Chromosomes, Human, Pair 21/*chemistry
Down Syndrome/*genetics
Heart Septal Defects/*genetics
Black People ; Down Syndrome/complications ; Down Syndrome/ethnology ; Down Syndrome/pathology ; Female ; Genetic Loci ; Heart Septal Defects/complications ; Heart Septal Defects/ethnology ; Heart Septal Defects/pathology ; Humans ; Male ; Microarray Analysis ; White People
SCR Disease Name:
Complete atrioventricular septal defect
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genome-Wide Association Study of Meiotic Recombination Phenotypes.
Autorzy:
Begum F; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205 .; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Chowdhury R; Department of Neurology, University of California, Los Angeles, California 90095.
Cheung VG; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Feingold E; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261.; Department of Biostatistics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2016 Dec 07; Vol. 6 (12), pp. 3995-4007. Date of Electronic Publication: 2016 Dec 07.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genome-Wide Association Study*
Phenotype*
Recombination, Genetic*
Meiosis/*genetics
Crossing Over, Genetic ; DNA Replication ; Female ; Genotype ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Ligases/genetics ; Male ; Nucleotide Motifs ; Pedigree ; Polymorphism, Single Nucleotide ; Sex Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
Autorzy:
Ramachandran D; Department of Human Genetics, Emory University, Atlanta, Georgia, 30033.
Zeng Z; Department of Biostatistics, University of Pittsburgh, Pennsylvania 15261.
Locke AE; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Atlanta, Georgia 30033.
Mulle JG; Department of Epidemiology, Rollins School of Public Health, Atlanta, Georgia 30033.
Bean LJ; Department of Human Genetics, Emory University, Atlanta, Georgia, 30033.
Rosser TC; Department of Human Genetics, Emory University, Atlanta, Georgia, 30033.
Dooley KJ; Department of Pediatrics, Sibley Heart Center Cardiology, Children's Healthcare of Atlanta, Atlanta, Georgia 30033.
Cua CL; Heart Center, Nationwide Children's Hospital, Columbus, Ohio 43205.
Capone GT; Kennedy Krieger Institute, Baltimore, Maryland 21205.
Reeves RH; Department of Physiology and McKusick Nathans Institute for Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland 21205.
Maslen CL; Department of Pediatrics, Sibley Heart Center Cardiology, Children's Healthcare of Atlanta, Atlanta, Georgia 30033.
Cutler DJ; Department of Human Genetics, Emory University, Atlanta, Georgia, 30033.
Feingold E; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261.
Sherman SL; Department of Human Genetics, Emory University, Atlanta, Georgia, 30033.
Zwick ME; Department of Human Genetics, Emory University, Atlanta, Georgia, 30033 .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2015 Jul 20; Vol. 5 (10), pp. 1961-71. Date of Electronic Publication: 2015 Jul 20.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome-Wide Association Study*
Down Syndrome/*complications
Down Syndrome/*genetics
Heart Septal Defects/*etiology
Heart Septal Defects/*pathology
Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 21 ; Genetic Association Studies ; Genetic Variation ; Genotype ; Humans ; Phenotype ; Polymorphism, Single Nucleotide
SCR Disease Name:
Atrioventricular Septal Defect
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cognitive aspects of Fragile X syndrome.
Autorzy:
Huddleston LB; Department of Human Genetics, Emory University, Decatur, GA, USA.
Visootsak J; Department of Human Genetics, Emory University, Decatur, GA, USA.
Sherman SL; Department of Human Genetics, Emory University, Decatur, GA, USA.
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Źródło:
Wiley interdisciplinary reviews. Cognitive science [Wiley Interdiscip Rev Cogn Sci] 2014 Jul; Vol. 5 (4), pp. 501-508. Date of Electronic Publication: 2014 May 29.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction.
Autorzy:
Oliver TR; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America; Department of Biology, Spelman College, Atlanta, Georgia, United States of America.
Middlebrooks CD; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
Tinker SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
Allen EG; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
Bean LJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
Begum F; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Feingold E; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America; Department of Human Genetics, Graduate School of Public Health University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Chowdhury R; Department of Human Genetics, Graduate School of Public Health University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Cheung V; Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan, United States of America; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
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Źródło:
PloS one [PLoS One] 2014 Jun 13; Vol. 9 (6), pp. e99560. Date of Electronic Publication: 2014 Jun 13 (Print Publication: 2014).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Recombination, Genetic*
Chromosomes, Human, Pair 21/*genetics
Down Syndrome/*genetics
Female ; Genotype ; Humans ; Male ; Meiosis ; Nondisjunction, Genetic ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance.
Autorzy:
Hunter JE; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.
Epstein MP
Tinker SW
Abramowitz A
Sherman SL
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Źródło:
Behavior genetics [Behav Genet] 2012 May; Vol. 42 (3), pp. 415-22. Date of Electronic Publication: 2011 Nov 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Attention Deficit Disorder with Hyperactivity/*genetics
Fragile X Mental Retardation Protein/*genetics
Adolescent ; Adult ; Algorithms ; Attention Deficit Disorder with Hyperactivity/psychology ; Educational Status ; Family ; Female ; Heterozygote ; Humans ; Linear Models ; Middle Aged ; Mutation/genetics ; Risk Assessment ; Socioeconomic Factors ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls.
Autorzy:
Chang MC
DeCaro JJ
Zheng M
Gearing M
Shubeck L
Sherman SL
Welt CK
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Źródło:
Histopathology [Histopathology] 2011 Nov; Vol. 59 (5), pp. 1018-23. Date of Electronic Publication: 2011 Oct 18.
Typ publikacji:
Letter; Research Support, N.I.H., Extramural
MeSH Terms:
Fragile X Mental Retardation Protein/*genetics
Intranuclear Inclusion Bodies/*pathology
Primary Ovarian Insufficiency/*genetics
Primary Ovarian Insufficiency/*pathology
Ubiquitin/*biosynthesis
Adult ; Aged ; Female ; Fragile X Syndrome/complications ; Heterozygote ; Humans ; Immunohistochemistry ; Immunophenotyping ; Intranuclear Inclusion Bodies/genetics ; Primary Ovarian Insufficiency/metabolism
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.
Autorzy:
Peprah EK; Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA. />Allen EG
Williams SM
Woodard LM
Sherman SL
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Źródło:
Annals of human genetics [Ann Hum Genet] 2010 Jul; Vol. 74 (4), pp. 316-25.
Typ publikacji:
Comparative Study; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Polymorphism, Genetic*
Black People/*genetics
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
Adult ; Black or African American/genetics ; Gene Frequency ; Ghana ; Humans ; Interspersed Repetitive Sequences ; Male ; White People
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genetics. Genetic control of hotspots.
Autorzy:
Cheung VG; Howard Hughes Medical Institute, Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA. />Sherman SL
Feingold E
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Źródło:
Science (New York, N.Y.) [Science] 2010 Feb 12; Vol. 327 (5967), pp. 791-2.
Typ publikacji:
Comment; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Crossing Over, Genetic*
Recombination, Genetic*
Chromatin/*metabolism
DNA/*metabolism
Histone-Lysine N-Methyltransferase/*genetics
Meiosis/*genetics
Aneuploidy ; Animals ; Base Sequence ; DNA/chemistry ; Genetic Association Studies ; Genetic Variation ; Heterozygote ; Histone-Lysine N-Methyltransferase/metabolism ; Humans ; Mice
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Examination of FMR1 transcript and protein levels among 74 premutation carriers.
Autorzy:
Peprah E; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA. />He W
Allen E
Oliver T
Boyne A
Sherman SL
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Źródło:
Journal of human genetics [J Hum Genet] 2010 Jan; Vol. 55 (1), pp. 66-8. Date of Electronic Publication: 2009 Nov 20.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Mutation*
Protein Biosynthesis*
Transcription, Genetic*
Trinucleotide Repeat Expansion*
Fragile X Syndrome/*genetics
Humans ; Male ; RNA, Messenger/analysis ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Sequence Analysis, DNA ; Trinucleotide Repeats/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genetic analysis of variation in human meiotic recombination.
Autorzy:
Chowdhury R; Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Bois PR
Feingold E
Sherman SL
Cheung VG
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Źródło:
PLoS genetics [PLoS Genet] 2009 Sep; Vol. 5 (9), pp. e1000648. Date of Electronic Publication: 2009 Sep 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Variation*
Recombination, Genetic*
Meiosis/*genetics
Autistic Disorder/genetics ; Female ; Gene Expression Regulation ; Genetic Markers ; Genome, Human/genetics ; Genome-Wide Association Study ; Humans ; Male ; Myocardium/metabolism ; Phenotype ; Quantitative Trait Loci/genetics ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Decisions to participate in fragile X and other genomics-related research: Native American and African American voices.
Autorzy:
Johnson VA; University of Oklahoma Health Service Center, College of Nursing, Oklahoma City, USA.
Edwards KA
Sherman SL
Stephens LD
Williams W
Adair A
Deer-Smith MH
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Źródło:
Journal of cultural diversity [J Cult Divers] 2009 Fall; Vol. 16 (3), pp. 127-35.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Black or African American*
Attitude to Health*
Genetic Research*
Indians, North American*
Patient Selection*
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Focus Groups ; Fragile X Syndrome/genetics ; Humans ; Male ; Middle Aged ; Pilot Projects ; United States
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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