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Wyszukujesz frazę ""Genetic Testing"" wg kryterium: Temat


Starter badań:

Tytuł:
A new era of genetic testing in congenital heart disease: A review.
Autorzy:
Morrish AM; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.
Smith J; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Enriquez A; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; St Vincent's Clinical School Faculty of Medicine, UNSW Sydney, Sydney, Australia; Department of Clinical Genetics, Nepean Hospital, Sydney, Australia.
Sholler GF; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Mervis J; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia.
Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia; St Vincent's Clinical School Faculty of Medicine, UNSW Sydney, Sydney, Australia.
Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia; School of Women's and Children's Health, Faculty of Medicine, UNSW, Sydney, Australia; Randwick Genomics Laboratory, NSW Health Pathology, Sydney, Australia.
Winlaw DS; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Cincinati Children's Hospital Medical Centre, Cincinnati, OH, United States.
Blue GM; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia. Electronic address: .
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Źródło:
Trends in cardiovascular medicine [Trends Cardiovasc Med] 2022 Jul; Vol. 32 (5), pp. 311-319. Date of Electronic Publication: 2021 May 05.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Testing*
Heart Defects, Congenital*/diagnosis
Heart Defects, Congenital*/genetics
Heart Defects, Congenital*/therapy
Child ; Genetic Counseling ; Humans ; Referral and Consultation
Czasopismo naukowe
Tytuł:
Principles of molecular testing for hereditary cancer.
Autorzy:
Mighton C; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.; Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Lerner-Ellis JP; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
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Źródło:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2022 Jun; Vol. 61 (6), pp. 356-381.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Testing*
Neoplastic Syndromes, Hereditary*/diagnosis
Neoplastic Syndromes, Hereditary*/genetics
Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Molecular Diagnostic Techniques
Czasopismo naukowe
Tytuł:
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Autorzy:
McKnight D; Invitae, San Francisco, California, USA.
Bean L; Perkin Elmer, Duluth, Georgia, USA.
Karbassi I; Athena Diagnostics, Worcester, Massachusetts, USA.
Beattie K; GeneDx, Gaithersburg, Massachusetts, USA.
Bienvenu T; Institut de Psychiatrie et de Neurosciences de Paris (IPNP), Paris, France.
Bonin H; Central Manchester University Hospital, Manchester, Greater Manchester, UK.
Fang P; Baylor College of Medicine, Houston, Texas, USA.
Chrisodoulou J; Murdoch Childrens Research Institute and the University of Melbourne, Parkville, Victoria, Australia.; University of Sydney, Sydney, New South Wales, Australia.
Friez M; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Helgeson M; Invitae, San Francisco, California, USA.
Krishnaraj R; University of Sydney, Sydney, New South Wales, Australia.; Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Meng L; Baylor College of Medicine, Houston, Texas, USA.
Mighion L; GeneDx, Gaithersburg, Massachusetts, USA.
Neul J; Vanderbilt Kennedy Center, Nashville, Tennessee, USA.
Percy A; University of Alabama at Birmingham, Birmingham, Alabama, USA.
Ramsden S; Central Manchester University Hospital, Manchester, Greater Manchester, UK.
Zoghbi H; Baylor College of Medicine, Houston, Texas, USA.
Das S; University of Chicago, Chicago, Illinois, USA.
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Źródło:
Human mutation [Hum Mutat] 2022 Aug; Vol. 43 (8), pp. 1097-1113. Date of Electronic Publication: 2021 Dec 02.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*/methods
Genome, Human*
Genetic Variation ; Humans ; Pilot Projects
Czasopismo naukowe
Tytuł:
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
Autorzy:
Rosina E; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Pezzani L; Paediatric Unit, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Pezzoli L; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Marchetti D; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Bellini M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Pilotta A; Auxo-Endocrinology, Diabetology and Medical Genetic Unit, Department of Paediatrics, ASST Spedali Civili, 25123 Brescia, Italy.
Calabrese O; Medical Genetics Unit, Azienda Ospedaliera Universitaria di Modena, 41125 Modena, Italy.
Nicastro E; Paediatric Unit, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Cirillo F; Pediatric Hepatology and Paediatric Liver Transplantation, Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione, 90127 Palermo, Italy.
Cereda A; Paediatric Unit, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Scatigno A; Paediatric Unit, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.
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Źródło:
Genes [Genes (Basel)] 2022 Jul 19; Vol. 13 (7). Date of Electronic Publication: 2022 Jul 19.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Genetic Testing*
Family ; Homozygote ; Phenotype
Czasopismo naukowe
Tytuł:
Bilateral congenital membranous cataracts due to Glucosaminyl (N-Acetyl) Transferase 2 (GCNT2) mutation: Life-saving genetic analysis.
Autorzy:
Ganatra S; Department of Pediatric Ophthalmology, Strabismus and Neuro- Ophthalmology, L.V. Prasad Eye Institute, Andhra Pradesh, India.
Kekunnaya R; Department of Pediatric Ophthalmology, Strabismus and Neuro- Ophthalmology, L.V. Prasad Eye Institute, Andhra Pradesh, India.
Sachdeva V; Department of Pediatric Ophthalmology, Strabismus and Neuro- Ophthalmology, L.V. Prasad Eye Institute, Andhra Pradesh, India.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2622-2623.
Typ publikacji:
Journal Article
MeSH Terms:
Cataract*/congenital
Cataract*/diagnosis
Cataract*/genetics
Genetic Testing*
Humans ; Mutation ; N-Acetylhexosaminyltransferases/genetics ; Transferases/genetics
Czasopismo naukowe
Tytuł:
Gene-level association analysis of ordinal traits with functional ordinal logistic regressions.
Autorzy:
Chiu CY; Division of Biostatistics, Department of Preventive Medicine, University of Tennessee Health Science Center, Memphis, Tennessee, USA.; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA.
Wang S; Department of Biostatistics, Bioinformatics, and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, USA.
Zhang B; Department of Biostatistics, Bioinformatics, and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, USA.
Luo Y; Department of Biostatistics, Bioinformatics, and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, USA.
Simpson C; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
Zhang W; Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China.
Wilson AF; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA.
Bailey-Wilson JE; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA.
Agron E; National Eye Institute, National Institute of Health, Bethesda, Maryland, USA.
Chew EY; National Eye Institute, National Institute of Health, Bethesda, Maryland, USA.
Zhang J; Department of Computer Science and Engineering Technology, University of Maryland Eastern Shore, Princess Anne, Maryland, USA.
Xiong M; Human Genetics Center, University of Texas-Houston, Houston, Texas, USA.
Fan R; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA.; Department of Biostatistics, Bioinformatics, and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, USA.
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Źródło:
Genetic epidemiology [Genet Epidemiol] 2022 Jul; Vol. 46 (5-6), pp. 234-255. Date of Electronic Publication: 2022 Apr 19.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Models, Genetic*
Computer Simulation ; Genetic Variation ; Genotype ; Humans ; Logistic Models ; Phenotype
Czasopismo naukowe
Tytuł:
Framing utility: Regulatory reform and genetic tests in the USA, 1989-2000.
Autorzy:
Sturdy S; Science, Technology and Innovation Studies, University of Edinburgh, Old Surgeons' Hall, High School Yards, Edinburgh EH1 1LZ, UK. Electronic address: .
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Źródło:
Social science & medicine (1982) [Soc Sci Med] 2022 Jul; Vol. 304, pp. 112924. Date of Electronic Publication: 2020 Mar 19.
Typ publikacji:
Journal Article
MeSH Terms:
Eugenics*
Genetic Testing*
Humans ; Organizations ; United States
Czasopismo naukowe
Tytuł:
Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?
Autorzy:
Appelbaum PS; Department of Psychiatry, Columbia University Irving Medical Center, and New York State Psychiatric Institute, New York, NY 10032, USA. Electronic address: .
Burke W; Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
Parens E; The Hastings Center, Garrison, NY 10524, USA.
Zeevi DA; Dor Yeshorim, The Committee for the Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
Arbour L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Division of Medical Sciences, University of Victoria, Victoria, BC V8P 5C2, Canada; BC Children's Hospital Research Institute, Victoria, BC V8P 5C2, Canada.
Garrison NA; Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA; Institute for Precision Health, University of California Los Angeles, Los Angeles, CA 90095; Division of General Internal Medicine and Health Services Research, University of California, Los Angeles, Los Angeles, CA 9009, USA5.
Bonham VL; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.
Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.
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Źródło:
American journal of human genetics [Am J Hum Genet] 2022 Jun 02; Vol. 109 (6), pp. 981-988.
Typ publikacji:
Journal Article
MeSH Terms:
Ethnicity*/genetics
Genetic Testing*
Canada ; Family ; Genomics ; Humans
Czasopismo naukowe
Tytuł:
Accounting for Intergenerational Cascade Testing in Economic Evaluations of Clinical Genomics: A Scoping Review.
Autorzy:
Zischke J; Health Economics Group, QIMR Berghofer Medical Research Institute, Brisbane, Australia; School of Public Health and Social Work, Queensland University of Technology, Brisbane, Australia. Electronic address: .
White N; Centre for Healthcare Transformation, School of Public Health and Social Work and Australian Centre for Health Services Innovation, Queensland University of Technology, Brisbane, Australia.
Gordon L; Health Economics Group, QIMR Berghofer Medical Research Institute, Brisbane, Australia; School of Nursing, Queensland University of Technology, Brisbane, Australia; School of Public Health, The University of Queensland, Brisbane, Australia.
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Źródło:
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research [Value Health] 2022 Jun; Vol. 25 (6), pp. 944-953. Date of Electronic Publication: 2021 Dec 10.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Testing*
Genomics*
Cost-Benefit Analysis ; Humans
Czasopismo naukowe
Tytuł:
Ongoing reanalysis of prenatal exome sequencing data leads to higher diagnostic yield.
Autorzy:
Li LS
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
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Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2022 Jun; Vol. 59 (6), pp. 833-834.
Typ publikacji:
Letter; Comment
MeSH Terms:
Exome*/genetics
Genetic Testing*
Female ; Humans ; Longitudinal Studies ; Pregnancy ; Whole Exome Sequencing
Opinia redakcyjna
Tytuł:
The pathogenicity classification of PAH gene variants in the Iranian population.
Autorzy:
Alibakhshi R; Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Kazeminia M; Student Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Moradi K; Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran. Electronic address: .
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Źródło:
Computational biology and chemistry [Comput Biol Chem] 2022 Jun; Vol. 98, pp. 107665. Date of Electronic Publication: 2022 Mar 12.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Genomics*/methods
Adenosine Monophosphate ; Genetic Variation ; Humans ; Iran ; United States ; Virulence
Czasopismo naukowe
Tytuł:
Current practice in diagnostic genetic testing of the epilepsies
Autorzy:
Krey I
Platzer K
Esterhuizen A
Berkovic SF
Helbig I
Hildebrand MS
Lerche H
Lowenstein D
Møller RS
Poduri A
Sadleir L
Sisodiya SM
Weckhuysen S
Wilmshurst JM
Weber Y
Lemke JR
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Transliterated Title:
Current practice in diagnostic genetic testing of the epilepsies.
Źródło:
Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2022 Oct 01; Vol. 24 (5), pp. 1-22.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*/diagnosis
Epilepsy*/genetics
Genetic Testing*/methods
Diagnostic Techniques and Procedures ; Humans
Czasopismo naukowe
Tytuł:
Genetic testing users in Italy and Germany: Health orientation, health-related habits, and psychological profile.
Autorzy:
Ongaro G; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Brivio E; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Cincidda C; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Oliveri S; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Spinella F; Eurofins Genoma Group, Molecular Genetics Laboratories, Rome, Italy.
Steinberger D; Institute for Humangenetics, Justus Liebig University, Giessen, Germany.; Bio.logis Digital Health GmbH, Frankfurt am Main, Germany.; Bio.logis Center for Humangenetics, Frankfurt am Main, Germany.
Cutica I; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Gorini A; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Pravettoni G; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Mar; Vol. 10 (3), pp. e1851. Date of Electronic Publication: 2022 Feb 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Attitude*
Genetic Testing*
Germany ; Habits ; Humans ; Italy
Czasopismo naukowe
Tytuł:
Decisional needs of patients considering preimplantation genetic testing: a systematic review.
Autorzy:
Cheng L; Prince of Wales Clinical School, Level 4, Lowy Cancer Research Centre, The University of New South Wales, Randwick NSW 2052, Australia. Electronic address: .
Meiser B; Prince of Wales Clinical School, Level 4, Lowy Cancer Research Centre, The University of New South Wales, Randwick NSW 2052, Australia.
Kirk E; Sydney Children's Hospital, School of Women's and Children's Health, The University of New South Wales NSW, Australia.
Kennedy D; Royal Hospital for Women, IVFAustralia, School of Women's and Children's Health, The University of New South Wales NSW, Australia.
Barlow-Stewart K; Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney NSW, Australia.
Kaur R; Faculty of Medicine and Health, The University of New South Wales Sydney NSW, Australia.
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Źródło:
Reproductive biomedicine online [Reprod Biomed Online] 2022 May; Vol. 44 (5), pp. 839-852. Date of Electronic Publication: 2021 Dec 21.
Typ publikacji:
Journal Article; Review; Systematic Review
MeSH Terms:
Genetic Testing*
Humans
Czasopismo naukowe
Tytuł:
Psychological Determinants of Men's Adherence to Cascade Screening for BRCA1/2 .
Autorzy:
Ongaro G; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, 20141 Milan, Italy.
Petrocchi S; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.
Calvello M; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.
Bonanni B; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.
Feroce I; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.
Pravettoni G; Applied Research Division for Cognitive and Psychological Science, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, 20141 Milan, Italy.
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Źródło:
Current oncology (Toronto, Ont.) [Curr Oncol] 2022 Apr 02; Vol. 29 (4), pp. 2490-2503. Date of Electronic Publication: 2022 Apr 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Breast Neoplasms*/diagnosis
Genetic Testing*
BRCA1 Protein/genetics ; Female ; Germ-Line Mutation ; Heterozygote ; Humans ; Male ; Mass Screening
Czasopismo naukowe
Tytuł:
Helix: A Digital Tool to Address Provider Needs for Prostate Cancer Genetic Testing in Clinical Practice.
Autorzy:
Giri VN; Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA; Cancer Risk Assessment and Clinical Cancer Genetics Program, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA; Department of Urology, Thomas Jefferson University, Philadelphia, PA. Electronic address: .
Walker A; MedStar Health, Institute for Innovation, Washington, DC.
Gross L; Cancer Risk Assessment and Clinical Cancer Genetics Program, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA.
Trabulsi EJ; Department of Urology, Thomas Jefferson University, Philadelphia, PA.
Lallas CD; Department of Urology, Thomas Jefferson University, Philadelphia, PA.
Kelly WK; Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA.
Gomella LG; Department of Urology, Thomas Jefferson University, Philadelphia, PA.
Fischer C; Jefferson Digital Innovation and Consumer Experience, Thomas Jefferson University, Philadelphia, PA.
Loeb S; NYU-Langone Health, New York, NY; Manhattan Veterans Affairs Hospital, New York, NY.
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Źródło:
Clinical genitourinary cancer [Clin Genitourin Cancer] 2022 Apr; Vol. 20 (2), pp. e104-e113. Date of Electronic Publication: 2021 Nov 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Testing*
Prostatic Neoplasms*/diagnosis
Prostatic Neoplasms*/genetics
Prostatic Neoplasms*/therapy
Genetic Counseling/psychology ; Humans ; Male ; Radiation Oncologists ; Urologists
Czasopismo naukowe
Tytuł:
Frequency of actionable Exomic secondary findings in 160 Colombian patients: Impact in the healthcare system.
Autorzy:
Rodríguez-Salgado LE; School of Medicine and Health Sciences, University of Rosario, Bogotá, Colombia.
Silva-Aldana CT; Molecular Genetics Laboratory of Colombia S.A.S, Bogotá, Colombia.
Medina-Méndez E; Molecular Genetics Laboratory of Colombia S.A.S, Bogotá, Colombia.
Bareño-Silva J; School of Medicine, Mental Health Research Group, CES University, Medellin, Colombia.
Arcos-Burgos M; Research Group on Psychiatric Disorders (GIPSI), Department of Psychiatry, Institute of Medical Research, School of Medicine, University of Antioquia, Medellín, Colombia.
Silgado-Guzmán DF; Molecular Genetics Laboratory of Colombia S.A.S, Bogotá, Colombia. Electronic address: .
Restrepo CM; Center for Research in Genetics and Genomics (CIGGUR), GeniURos Research Group, School of Medicine and Health Sciences, University of Rosario, Bogotá, Colombia. Electronic address: .
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Źródło:
Gene [Gene] 2022 Sep 05; Vol. 838, pp. 146699. Date of Electronic Publication: 2022 Jul 06.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Proprotein Convertase 9*/genetics
Colombia/epidemiology ; Cross-Sectional Studies ; Delivery of Health Care ; Genetic Variation ; Humans ; United States
Czasopismo naukowe
Tytuł:
Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.
Autorzy:
Zheng M; Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China.
Huang H; Pediatric Department, North-Kuanren General Hospital of Chongqing, Chongqing, 401121, China.
Zhu X; Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China.
Ho H; Auckland Bioengineering Institute, The University of Auckland, Private Bag 92019, Auckland, 1142, New Zealand.
Li L; Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China.
Ji X; Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China. .
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Źródło:
BMC cardiovascular disorders [BMC Cardiovasc Disord] 2022 May 25; Vol. 22 (1), pp. 240. Date of Electronic Publication: 2022 May 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cardiomyopathy, Restrictive*/diagnosis
Cardiomyopathy, Restrictive*/genetics
Genetic Testing*/methods
Pericarditis, Constrictive*/diagnosis
Amino Acids/genetics ; Child ; Desmin/genetics ; Humans ; Mutation ; Troponin I/genetics ; Troponin T/genetics
Czasopismo naukowe
Tytuł:
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach.
Autorzy:
Feng YA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. .; Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, USA. .; Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan. .; Master of Public Health Program, National Taiwan University, Taipei, Taiwan. .
Stanaway IB; Division of Nephrology, School of Medicine, Kidney Research Institute, University of Washington, Seattle, WA, USA.
Connolly JJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Denny JC; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; All of Us Research Program, National Institutes of Health, Besthesda, MD, USA.
Luo Y; Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Weng C; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA.
Wei WQ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Weiss ST; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Karlson EW; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Boston, MA, USA.
Smoller JW; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. .; Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, USA. .; Center for Precision Psychiatry, Massachusetts General Hospital, Boston, MA, USA. .
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Źródło:
BMC genomics [BMC Genomics] 2022 May 19; Vol. 23 (1), pp. 385. Date of Electronic Publication: 2022 May 19.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Genetic Testing*/methods
Genetic Variation ; Genomics/methods ; Humans ; Mutation ; Phenotype
Czasopismo naukowe

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