Temat: "Genetic Testing" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: Consider Your Health Future with Care.
Autorzy :: Erdmann, Jeanne; Pokaż więcej
Źródło :: Real Simple. Dec2019, Vol. 20 Issue 12, p67-70. 4p. 2 Color Photographs.
Temat :: GENETIC testing
MEDICAL equipment
PREVENTIVE medicine
GENETICS
PUBLIC health
: Periodyk

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 2 2.

Tytuł :: [Meaningful diagnostics: genetics].
Transliterated Title :: Sinnvolle Diagnostik: Genetik.
Autorzy :: Trenkwalder T; Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland.
Schunkert H; Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland.; Partner Site Munich Heart Alliance, Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK), München, Deutschland.
Reinhard W; Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland. .; Pokaż więcej
Źródło :: Herz [Herz] 2020 Feb; Vol. 45 (1), pp. 3-9.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Urban Und Vogel Country of Publication: Germany NLM ID: 7801231 Publication Model: Print Cited Medium: Internet ISSN: 1615-6692 (Electronic) Linking ISSN: 03409937 NLM ISO Abbreviation: Herz Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Long QT Syndrome*/diagnosis
Long QT Syndrome*/genetics
Tachycardia, Ventricular*/diagnosis
Tachycardia, Ventricular*/genetics
Arrhythmias, Cardiac/diagnosis ; Arrhythmias, Cardiac/genetics ; Death, Sudden, Cardiac ; Genetic Predisposition to Disease ; Humans ; Mutation
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Genetic testing in patients with hypertrophic cardiomyopathy.
Transliterated Title :: Genetické vyšetření u pacientů s hypertrofickou kardiomyopatií.
Autorzy :: Bonaventura J
Veselka J; Pokaż więcej
Źródło :: Vnitrni Lekarstvi [Vnitr Lek] 2019 Winter; Vol. 65 (10), pp. 652-658.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Ambit Media Country of Publication: Czech Republic NLM ID: 0413602 Publication Model: Print Cited Medium: Print ISSN: 0042-773X (Print) Linking ISSN: 0042773X NLM ISO Abbreviation: Vnitr Lek Subsets: MEDLINE
MeSH Terms :: Cardiomyopathy, Hypertrophic*/diagnosis
Cardiomyopathy, Hypertrophic*/genetics
Genetic Testing*
High-Throughput Nucleotide Sequencing ; Humans ; Mutation
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: Hereditary prostate cancer - Primetime for genetic testing?
Autorzy :: Heidegger I; Department of Urology, Medical University Innsbruck, Innsbruck, Austria. Electronic address: .
Tsaur I; Department of Urology and Pediatric Urology, Mainz University Medicine, Mainz, Germany.
Borgmann H; Department of Urology and Pediatric Urology, Mainz University Medicine, Mainz, Germany.
Surcel C; Department of Urology, Fundeni Clinical Institute, University of Medicine and Pharmacy, Carol Davila Bucharest, Bucharest, Romania.
Kretschmer A; Department of Urology, Ludwig-Maximilians-University of Munich, Munich, Germany.
Mathieu R; Department of Urology, CHU Rennes, Rennes, France.
Visschere P; Department of Radiology and Nuclear Medicine, Ghent University Hospital, Ghent, Belgium.
Valerio M; Department of Urology, CHUV Lausanne, Switzerland.
van den Bergh RCN; Department of Urology, Antonius Hospital, Utrecht, the Netherlands.
Ost P; Department of Radiation Oncology and Experimental Cancer Research, Ghent University Hospital, Ghent, Belgium.
Tilki D; Martini Klinik Prostate Cancer Center, University Hospital Hamburg-Eppendorf, Hamburg, Germany; Department of Urology, University Hospital-Hamburg Eppendorf, Hamburg, Germany.
Gandaglia G; Department of Urology, Urological Research Institute, Vita-Salute University and San Raffaele Hospital, Milan, Italy.
Ploussard G; Department of Urology, La Croix du Sud Hospital, Toulouse, France; Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France.; Pokaż więcej
Corporate Authors :: EAU-YAU Prostate Cancer Working Party
Źródło :: Cancer Treatment Reviews [Cancer Treat Rev] 2019 Dec; Vol. 81, pp. 101927. Date of Electronic Publication: 2019 Nov 11.
Typ publikacji :: Journal Article; Review
Journal Info :: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502030 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1967 (Electronic) Linking ISSN: 03057372 NLM ISO Abbreviation: Cancer Treat. Rev. Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Prostatic Neoplasms/*epidemiology
Prostatic Neoplasms/*genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Checkpoint Kinase 2/genetics ; Clinical Trials as Topic ; DNA Copy Number Variations ; Genetic Predisposition to Disease ; Homeodomain Proteins/genetics ; Humans ; Male ; Mutation ; Polymorphism, Single Nucleotide ; Precision Medicine/methods ; Prostatic Neoplasms/pathology
SCR Disease Name :: Prostate cancer, familial
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Preimplantation genetic screening should be used in all in vitro fertilisation cycles in women over the age of 35 years: AGAINST: Pre-implantation genetic screening should not be used in all IVF cycles in women over the age of 35 years.
Autorzy :: Ledger W; Faculty of Medicine, School of Women's and Children's Health, UNSW Medicine, Sydney, New South Wales, Australia.; Pokaż więcej
Źródło :: BJOG: An International Journal Of Obstetrics And Gynaecology [BJOG] 2019 Dec; Vol. 126 (13), pp. 1555. Date of Electronic Publication: 2019 Oct 15.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0528 (Electronic) Linking ISSN: 14700328 NLM ISO Abbreviation: BJOG Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :: Fertilization in Vitro*
Genetic Testing*/economics
Genetic Testing*/statistics & numerical data
Preimplantation Diagnosis*/adverse effects
Preimplantation Diagnosis*/statistics & numerical data
Adult ; Cost-Benefit Analysis ; Female ; Humans ; Maternal Age ; Pregnancy
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: Preimplantation genetic screening should be used in all in vitro fertilisation cycles in women over the age of 35 years: FOR: Optimising reproductive outcomes is cost-effective and minimises adverse sequelae.
Autorzy :: Ben Nagi J; Centre for Reproductive and Genetic Health, London, UK.
Serhal P; Centre for Reproductive and Genetic Health, London, UK.
Wells D; Nuffield Department of Women's & Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Juno Genetics, Oxford, UK.
Jones BP; West London Gynaecological Cancer Centre, Hammersmith Hospital, Imperial College NHS Trust, London, UK.; Department of Surgery and Cancer, Imperial College London, London, UK.; Pokaż więcej
Źródło :: BJOG: An International Journal Of Obstetrics And Gynaecology [BJOG] 2019 Dec; Vol. 126 (13), pp. 1554. Date of Electronic Publication: 2019 Oct 14.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0528 (Electronic) Linking ISSN: 14700328 NLM ISO Abbreviation: BJOG Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :: Fertilization in Vitro*
Genetic Testing*/economics
Genetic Testing*/statistics & numerical data
Preimplantation Diagnosis*/economics
Preimplantation Diagnosis*/statistics & numerical data
Pregnancy Complications/*prevention & control
Adult ; Cost-Benefit Analysis ; Female ; Humans ; Maternal Age ; Pregnancy
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 7 7.

Tytuł :: Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States.
Autorzy :: Zhao S; Department of Health, Exercise & Sports Sciences, University of New Mexico, Albuquerque, NM, USA.
Chen WJ; Department of Psychology, The University of Texas of the Permian Basin, Odessa, TX, USA.
Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Eble TN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kwok OM; Department of Educational Psychology, Texas A&M University, College Station, TX, USA.
Chen LS; Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA. .; Pokaż więcej
Źródło :: Journal Of Autism And Developmental Disorders [J Autism Dev Disord] 2019 Dec; Vol. 49 (12), pp. 4821-4833.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE
MeSH Terms :: Parents*/psychology
Surveys and Questionnaires*
Autism Spectrum Disorder/*epidemiology
Autism Spectrum Disorder/*genetics
Genetic Testing/*methods
Adult ; Autism Spectrum Disorder/diagnosis ; Awareness ; Child ; Child, Preschool ; Female ; Genetic Testing/trends ; Humans ; Male ; Middle Aged ; United States/epidemiology
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 8 8.

Tytuł :: The Patient-Scientist's Mandate.
Autorzy :: Vallabh SM; From the Broad Institute of MIT and Harvard, Cambridge, MA.; Pokaż więcej
Źródło :: The New England Journal Of Medicine [N Engl J Med] 2020 Jan 09; Vol. 382 (2), pp. 107-109.
Typ publikacji :: Journal Article; Personal Narrative
Journal Info :: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N. Engl. J. Med. Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :: Biomedical Research*
Genetic Testing*
Dementia/*prevention & control
Oligonucleotides, Antisense/*therapeutic use
Prion Diseases/*prevention & control
Prion Proteins/*genetics
Conflict of Interest ; Dementia/genetics ; Female ; Humans ; Prion Diseases/genetics ; Prion Proteins/drug effects
SCR Disease Name :: Amyloidosis, Cerebral, with Spongiform Encephalopathy
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 9 9.

Tytuł :: Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Autorzy :: Bennett JS; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Bernhardt M; Department of Medical Genetics, St. Luke's Mountain States Tumor Institute, Boise, ID, USA.
McBride KL; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; The Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, OH, USA.
Reshmi SC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Zmuda E; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Kertesz NJ; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Garg V; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.; The Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, OH, USA.
Fitzgerald-Butt S; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Kamp AN; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. .; The Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA. .; Pokaż więcej
Źródło :: Pediatric Cardiology [Pediatr Cardiol] 2019 Dec; Vol. 40 (8), pp. 1679-1687. Date of Electronic Publication: 2019 Sep 18.
Typ publikacji :: Journal Article
Journal Info :: 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
MeSH Terms :: Genetic Predisposition to Disease*
Arrhythmias, Cardiac/*genetics
Genetic Testing/*standards
Adolescent ; Child ; Child, Preschool ; Female ; Genetic Testing/methods ; Humans ; Infant ; Male ; Practice Guidelines as Topic ; Retrospective Studies ; Syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 10 10.

Tytuł :: Discover Your Roots.
Autorzy :: ESSWEIN, PATRICIA MERTZ; Pokaż więcej
Źródło :: Kiplinger's Personal Finance. Nov2019, Vol. 73 Issue 11, p64-69. 6p. 3 Color Photographs.
: Periodyk

Szczegóły Pełny tekst

Skocz do pozycji: 11 11.

Tytuł :: [Promoting regulated gene diagnosis for retinoblastoma in clinical work].
Autorzy :: Liang JH; Department of Ophthalmology, Peking University People's Hospital, Eye Diseases and Optometry Institute, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing 100044, China.
Zhu XM; Pokaż więcej
Źródło :: [Zhonghua Yan Ke Za Zhi] Chinese Journal Of Ophthalmology [Zhonghua Yan Ke Za Zhi] 2019 Nov 11; Vol. 55 (11), pp. 806-810.
Typ publikacji :: Journal Article; Review
Journal Info :: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 16210540R Publication Model: Print Cited Medium: Print ISSN: 0412-4081 (Print) Linking ISSN: 04124081 NLM ISO Abbreviation: Zhonghua Yan Ke Za Zhi Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Retinal Neoplasms/*diagnosis
Retinoblastoma/*diagnosis
Child ; China ; DNA Mutational Analysis ; Genes, Retinoblastoma ; Humans ; Mutation ; Retinal Neoplasms/genetics ; Retinoblastoma/genetics ; Retinoblastoma Binding Proteins/genetics ; Ubiquitin-Protein Ligases/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 12 12.

Tytuł :: Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Autorzy :: Schonfeld EA; Division of Gastroenterology, University of Colorado Anschutz Medical Campus, 1635 Aurora Court, 7th Floor, Aurora, CO 80045, USA.
Brown RS Jr; Division of Gastroenterology and Hepatology, Weill Cornell Medical College, 1305 York Avenue, 4th Floor, New York, NY 10021, USA. Electronic address: .; Pokaż więcej
Źródło :: The Medical Clinics Of North America [Med Clin North Am] 2019 Nov; Vol. 103 (6), pp. 991-1003.
Typ publikacji :: Journal Article; Review
Journal Info :: Publisher: W B Saunders Country of Publication: United States NLM ID: 2985236R Publication Model: Print Cited Medium: Internet ISSN: 1557-9859 (Electronic) Linking ISSN: 00257125 NLM ISO Abbreviation: Med. Clin. North Am. Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :: Genetic Testing*
Liver Diseases*/genetics
Liver Diseases*/therapy
Patient Care Management/*methods
Humans
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 13 13.

Tytuł :: Role of Nerve and Muscle Biopsies in Pediatric Patients in the Era of Genetic Testing.
Autorzy :: Yang K; Pediatric Surgery, University of Texas Southwestern Medical Center, Dallas, Texas.
Iannaccone S; Pediatric Surgery, Children's Medical Center, Dallas, Texas; Neurology, University of Texas Southwestern Medical Center, Dallas, Texas.
Burkhalter LS; Pediatric Surgery, University of Texas Southwestern Medical Center, Dallas, Texas; Pediatric Surgery, Children's Medical Center, Dallas, Texas.
Reisch J; Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, Texas.
Cai C; Pathology, University of Texas Southwestern Medical Center, Dallas, Texas.
Schindel D; Pediatric Surgery, University of Texas Southwestern Medical Center, Dallas, Texas; Pediatric Surgery, Children's Medical Center, Dallas, Texas. Electronic address: .; Pokaż więcej
Źródło :: The Journal Of Surgical Research [J Surg Res] 2019 Nov; Vol. 243, pp. 27-32. Date of Electronic Publication: 2019 May 28.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Academic Press Country of Publication: United States NLM ID: 0376340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-8673 (Electronic) Linking ISSN: 00224804 NLM ISO Abbreviation: J. Surg. Res. Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Muscle, Skeletal/*pathology
Neuromuscular Diseases/*diagnosis
Peripheral Nerves/*pathology
Biopsy ; Child ; Female ; Follow-Up Studies ; Humans ; Male ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/pathology ; Retrospective Studies
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 14 14.

Tytuł :: [Preimplantation genetic testing: legal and ethical aspects in clinical practice].
Transliterated Title :: Tests génétiques préimplantatoires : enjeux légaux et éthiques dans la pratique clinique.
Autorzy :: Simon JP; Unité des affaires juridiques, CHUV, 1011 Lausanne.
Pradervand PA; Unité de médecine de la fertilité et endocrinologie gynécologique, Département femme-mère-enfant, CHUV, 1011 Lausanne.
Cina V; Service de médecine génétique, CHUV, 1011 Lausanne.
Superti-Furga A; Service de médecine génétique, CHUV, 1011 Lausanne.
Primi MP; Laboratoire d'andrologie et biologie de la reproduction, CHUV, 1011 Lausanne.
Leyvraz-Recrosio C; Laboratoire d'andrologie et biologie de la reproduction, CHUV, 1011 Lausanne.
Fischer M; Unité d'éthique clinique, Département universitaire de médecine et santé communautaire, CHUV, 1011 Lausanne.
Vulliemoz N; Unité de médecine de la fertilité et endocrinologie gynécologique, Département femme-mère-enfant, CHUV, 1011 Lausanne.; Pokaż więcej
Źródło :: Revue Medicale Suisse [Rev Med Suisse] 2019 Oct 23; Vol. 15 (668), pp. 1909-1913.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Médecine et Hygiène Country of Publication: Switzerland NLM ID: 101219148 Publication Model: Print Cited Medium: Print ISSN: 1660-9379 (Print) Linking ISSN: 16609379 NLM ISO Abbreviation: Rev Med Suisse Subsets: MEDLINE
MeSH Terms :: Genetic Testing/*ethics
Genetic Testing/*legislation & jurisprudence
Preimplantation Diagnosis/*ethics
Aneuploidy ; Female ; Fertilization in Vitro ; Genetic Testing/methods ; Humans ; Male ; Pregnancy ; Preimplantation Diagnosis/methods ; Switzerland
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 15 15.

Tytuł :: Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective.
Autorzy :: Tang Y; Molecular Genetics Laboratory, Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016, USA. .
Williams N; Molecular Genetics Laboratory, Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016, USA.
Sampson BA; Forensic Pathology Department, Office of Chief Medical Examiner, New York, NY, USA.; Pokaż więcej
Źródło :: Forensic Science, Medicine, And Pathology [Forensic Sci Med Pathol] 2019 Sep; Vol. 15 (3), pp. 481-484. Date of Electronic Publication: 2018 Dec 07.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Humana Press Country of Publication: United States NLM ID: 101236111 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-2891 (Electronic) Linking ISSN: 1547769X NLM ISO Abbreviation: Forensic Sci Med Pathol Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Death, Sudden/*etiology
Adolescent ; Adult ; Cardiovascular Diseases/genetics ; Channelopathies/genetics ; Child ; Child, Preschool ; Coroners and Medical Examiners ; DNA Copy Number Variations ; Genetic Carrier Screening ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Infant ; New York City ; Primary Prevention ; Sudden Infant Death/genetics ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 16 16.

Tytuł :: A data-driven evaluation of the size and content of expanded carrier screening panels.
Autorzy :: Ben-Shachar R; Myriad Women's Health, Inc. (formerly Counsyl, Inc.), South San Francisco, CA, USA.
Svenson A; Myriad Women's Health, Inc. (formerly Counsyl, Inc.), South San Francisco, CA, USA.
Goldberg JD; Myriad Women's Health, Inc. (formerly Counsyl, Inc.), South San Francisco, CA, USA.
Muzzey D; Myriad Women's Health, Inc. (formerly Counsyl, Inc.), South San Francisco, CA, USA. .; Pokaż więcej
Źródło :: Genetics In Medicine: Official Journal Of The American College Of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 1931-1939. Date of Electronic Publication: 2019 Feb 28.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Genetic Carrier Screening/*methods
Genetic Counseling/*methods
Genetic Diseases, Inborn/*genetics
DNA Copy Number Variations/genetics ; Female ; Genetic Carrier Screening/standards ; Genetic Counseling/standards ; Genetic Diseases, Inborn/diagnosis ; Guidelines as Topic ; Heterozygote ; Humans ; Male ; Mutation/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 17 17.

Tytuł :: Cell-free DNA and contingent screening: Our first year.
Autorzy :: Gomes HH; Department of Gynecology and Obstetrics, Hospital Beatriz Ângelo, Avenida Carlos Teixeira 514, Loures, Portugal. Electronic address: .
Lourenço I; Department of Gynecology and Obstetrics, Hospital Beatriz Ângelo, Avenida Carlos Teixeira 514, Loures, Portugal. Electronic address: .
Ribeiro J; Department of Gynecology and Obstetrics, Hospital Beatriz Ângelo, Avenida Carlos Teixeira 514, Loures, Portugal. Electronic address: .
Martins D; Department of Gynecology and Obstetrics, Hospital Beatriz Ângelo, Avenida Carlos Teixeira 514, Loures, Portugal. Electronic address: .
Ribeiro R; Department of Gynecology and Obstetrics, Hospital Beatriz Ângelo, Avenida Carlos Teixeira 514, Loures, Portugal. Electronic address: .
Francisco C; Department of Gynecology and Obstetrics, Hospital Beatriz Ângelo, Avenida Carlos Teixeira 514, Loures, Portugal. Electronic address: .; Pokaż więcej
Źródło :: Journal Of Gynecology Obstetrics And Human Reproduction [J Gynecol Obstet Hum Reprod] 2019 Sep; Vol. 48 (7), pp. 509-514. Date of Electronic Publication: 2019 Apr 02.
Typ publikacji :: Evaluation Study; Journal Article
Journal Info :: Publisher: Elsevier Masson SAS Country of Publication: France NLM ID: 101701588 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-7847 (Electronic) Linking ISSN: 24687847 NLM ISO Abbreviation: J Gynecol Obstet Hum Reprod Subsets: MEDLINE
MeSH Terms :: Aneuploidy*
Genetic Testing*/economics
Genetic Testing*/methods
Maternal Serum Screening Tests*/economics
Maternal Serum Screening Tests*/methods
Cell-Free Nucleic Acids/*blood
Adolescent ; Adult ; Cell-Free Nucleic Acids/analysis ; Cost-Benefit Analysis ; Female ; Humans ; Middle Aged ; Predictive Value of Tests ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, First/blood ; Trisomy/diagnosis ; Trisomy/genetics ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 18 18.

Tytuł :: The Implications of Genetic Testing on Radiation Therapy Decisions: A Guide for Radiation Oncologists.
Autorzy :: Bergom C; Department of Radiation Oncology, Medical College of Wisconsin, Milwaukee, Wisconsin.
West CM; Division of Cancer Sciences, National Institute for Health Research Manchester Biomedical Research Centre, University of Manchester, Christie National Health Service Foundation Trust Hospital, Manchester, UK.
Higginson DS; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.
Abazeed ME; Department of Radiation Oncology, Cleveland Clinic, Cleveland, Ohio; Department of Translational Hematology Oncology Research, Cleveland Clinic, Cleveland, Ohio.
Arun B; Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Bentzen SM; Department of Epidemiology and Public Health, University of Maryland School of Medicine, Baltimore, Maryland.
Bernstein JL; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Evans JD; Department of Radiation Oncology, Mayo Clinic, Rochester, Minnesota; Department of Radiation Oncology and Precision Genomics, Intermountain Healthcare, Ogden, Utah.
Gerber NK; Department of Radiation Oncology, New York University Langone Health, New York, New York.
Kerns SL; Department of Radiation Oncology, University of Rochester, Rochester, New York.
Keen J; Scientific Affairs, American Society for Radiation Oncology, Arlington, Virginia.
Litton JK; Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Reiner AS; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Riaz N; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.
Rosenstein BS; Department of Radiation Oncology, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Sawakuchi GO; Department of Radiation Physics The University of Texas MD Anderson Cancer Center, Houston, Texas.
Shaitelman SF; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Powell SN; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.
Woodward WA; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas. Electronic address: .; Pokaż więcej
Źródło :: International Journal Of Radiation Oncology, Biology, Physics [Int J Radiat Oncol Biol Phys] 2019 Nov 15; Vol. 105 (4), pp. 698-712. Date of Electronic Publication: 2019 Aug 02.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info :: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 7603616 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-355X (Electronic) Linking ISSN: 03603016 NLM ISO Abbreviation: Int. J. Radiat. Oncol. Biol. Phys. Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Mutation*
Radiation Oncologists*
Neoplasms/*genetics
Neoplasms/*radiotherapy
Radiation Tolerance/*genetics
Adult ; Ataxia Telangiectasia/genetics ; Ataxia Telangiectasia Mutated Proteins/genetics ; Clinical Decision-Making ; Consensus ; DNA Repair/genetics ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Variation ; Germ-Line Mutation ; Health Care Surveys ; Heterozygote ; Humans ; Neoplasms, Radiation-Induced/genetics ; Neoplasms, Second Primary/genetics ; Syndrome ; Terminology as Topic
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 19 19.

Tytuł :: [Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency].
Autorzy :: Wang Y; Department of Pediatrics, Union Hospital Affiliated to Fujian Medical University, Fuzhou, Fujian 350001, China. .
Ke Z
Zou H
Lin M
Qiu M
Gu W
Chen Y; Pokaż więcej
Źródło :: Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Nov 10; Vol. 36 (11), pp. 1085-1089.
Typ publikacji :: Journal Article
Journal Info :: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :: Genetic Testing*
Amino Acid Metabolism, Inborn Errors/*genetics
Aromatic-L-Amino-Acid Decarboxylases/*deficiency
Aromatic-L-Amino-Acid Decarboxylases/*genetics
DNA Mutational Analysis ; Humans ; Infant ; Pedigree ; Retrospective Studies
SCR Disease Name :: Aromatic amino acid decarboxylase deficiency
: Czasopismo naukowe

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Transliterated Title :: Eugénisme et dépistage génétique des nouveau-nés : un imbroglio français.
Autorzy :: Nau JY; Pokaż więcej
Źródło :: Revue Medicale Suisse [Rev Med Suisse] 2019 Nov 06; Vol. 15 (670), pp. 2062-2063.
Typ publikacji :: Wiadomości
Journal Info :: Publisher: Médecine et Hygiène Country of Publication: Switzerland NLM ID: 101219148 Publication Model: Print Cited Medium: Print ISSN: 1660-9379 (Print) Linking ISSN: 16609379 NLM ISO Abbreviation: Rev Med Suisse Subsets: MEDLINE
MeSH Terms :: Eugenics*
Genetic Testing*
France ; Humans ; Infant, Newborn
: Periodyk

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