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Tytuł:
Using Rasch measurement theory to explore the fitness for purpose of the genetic counseling outcome scale: a tale of two scales.
Autorzy:
Borle K; Faculty of Graduate Studies, Interdisciplinary Studies Program, University of British Columbia, Vancouver, BC, Canada.
Austin J; Faculty of Medicine, Departments of Psychiatry and Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Mental Health & Substance Use Services Research Institute, Vancouver, BC, Canada.
Barbic S; Faculty of Medicine, Department of Occupational Therapy Scientist, Centre for Health Evaluation Outcome Sciences, The University of British Columbia, Vancouver, BC, Canada. .; Faculty of Medicine, Centre for Health Evaluation Outcome Sciences, University of British Columbia, Vancouver, BC, Canada. .
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Źródło:
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2023 Mar; Vol. 32 (3), pp. 895-904. Date of Electronic Publication: 2022 Nov 21.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Quality of Life*/psychology
Humans ; Reproducibility of Results ; Surveys and Questionnaires ; Canada
Czasopismo naukowe
Szczegóły
Tytuł:
A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.
Autorzy:
Yin H; Department of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Xie H; Department of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Zou J; Department of Pathology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Ye X; Department of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Liu Y; Department of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
He C; Department of Pathology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Shangguan S; Department of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Liu H; Department of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Chen X; Department of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China. .
Chen X; Department of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China. .
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Źródło:
BMC pediatrics [BMC Pediatr] 2023 Mar 04; Vol. 23 (1), pp. 104. Date of Electronic Publication: 2023 Mar 04.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
DNA Copy Number Variations*
Male ; Humans ; Child ; Karyotyping ; Cytogenetic Analysis ; Karyotype ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe
Szczegóły
Tytuł:
Genome screening, reporting, and genetic counseling for healthy populations.
Autorzy:
Casalino S; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Frangione E; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Chung M; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
MacDonald G; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Chowdhary S; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Mighton C; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.; University of Toronto, Toronto, Canada.; Unity Health Toronto, Toronto, Canada.
Faghfoury H; University Health Network, Toronto, Canada.
Bombard Y; University of Toronto, Toronto, Canada.; Unity Health Toronto, Toronto, Canada.
Strug L; The Hospital for Sick Children, Toronto, Canada.
Pugh TJ; University Health Network, Toronto, Canada.; Ontario Institute for Cancer Research, Toronto, Canada.
Simpson J; Ontario Institute for Cancer Research, Toronto, Canada.
Arnoldo S; University of Toronto, Toronto, Canada.; William Osler Health System, Brampton, Canada.
Aujla N; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Bearss E; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Binnie A; William Osler Health System, Brampton, Canada.
Borgundvaag B; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University of Toronto, Toronto, Canada.
Chertkow H; Baycrest Health Sciences, Toronto, Canada.
Clausen M; Unity Health Toronto, Toronto, Canada.
Dagher M; University of Toronto, Toronto, Canada.; Women's College Hospital, Toronto, Canada.
Devine L; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University of Toronto, Toronto, Canada.
Di Iorio D; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Friedman SM; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University Health Network, Toronto, Canada.
Fung CYJ; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Gingras AC; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.; University of Toronto, Toronto, Canada.
Goneau LW; Dynacare Medical Laboratories, Brampton, Canada.
Kaushik D; William Osler Health System, Brampton, Canada.
Khan Z; Mackenzie Health, Richmond Hill, Canada.
Lapadula E; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
Lu T; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Mazzulli T; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University of Toronto, Toronto, Canada.
McGeer A; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.; University of Toronto, Toronto, Canada.
McLeod SL; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University of Toronto, Toronto, Canada.
Morgan G; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.; University of Toronto, Toronto, Canada.
Richardson D; William Osler Health System, Brampton, Canada.
Singh H; University of Toronto, Toronto, Canada.
Stern S; Mackenzie Health, Richmond Hill, Canada.
Taher A; University of Toronto, Toronto, Canada.; University Health Network, Toronto, Canada.; Mackenzie Health, Richmond Hill, Canada.
Wong I; Mackenzie Health, Richmond Hill, Canada.
Zarei N; Mackenzie Health, Richmond Hill, Canada.
Greenfeld E; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University of Toronto, Toronto, Canada.
Hao L; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, USA.
Lebo M; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, USA.; Harvard Medical School & Brigham and Women's Hospital, Boston, USA.
Lane W; Harvard Medical School & Brigham and Women's Hospital, Boston, USA.
Noor A; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University of Toronto, Toronto, Canada.
Taher J; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.; University of Toronto, Toronto, Canada.
Lerner-Ellis J; Pathology & Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada. .; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada. .; University of Toronto, Toronto, Canada. .
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Źródło:
Human genetics [Hum Genet] 2023 Feb; Vol. 142 (2), pp. 181-192. Date of Electronic Publication: 2022 Nov 04.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
COVID-19*/epidemiology
COVID-19*/genetics
Adult ; Humans ; SARS-CoV-2/genetics ; Genomics/methods ; Genotype
Czasopismo naukowe
Szczegóły
Tytuł:
Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
Autorzy:
Abdallah N; Department of Internal Medicine, Division of Oncology, Mayo Clinic, Rochester, MN, USA.
Purrington KS; Department of Oncology, Karmanos Cancer Institute at Wayne State University, Detroit, MI, USA.; Population Studies and Disparities Research Program, Barbara Ann Karmanos Cancer Institute, Detroit, MI, USA.
Tatineni S; Department of Oncology, Minnesota Oncology, Minneapolis, MN, USA.
Assad H; Department of Oncology, Karmanos Cancer Institute at Wayne State University, Detroit, MI, USA.; Population Studies and Disparities Research Program, Barbara Ann Karmanos Cancer Institute, Detroit, MI, USA.
Petrucelli N; Department of Oncology, Karmanos Cancer Institute at Wayne State University, Detroit, MI, USA.
Simon MS; Department of Oncology, Karmanos Cancer Institute at Wayne State University, Detroit, MI, USA. .; Population Studies and Disparities Research Program, Barbara Ann Karmanos Cancer Institute, Detroit, MI, USA. .
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Źródło:
Cancer causes & control : CCC [Cancer Causes Control] 2023 Feb; Vol. 34 (2), pp. 141-149. Date of Electronic Publication: 2022 Nov 12.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA2 Protein*/genetics
Breast Neoplasms*/diagnosis
Breast Neoplasms*/epidemiology
Breast Neoplasms*/genetics
Genetic Counseling*
Genetic Predisposition to Disease*
Female ; Humans ; BRCA1 Protein/genetics ; Ethnicity/genetics ; Genetic Testing ; Genetic Variation ; Hispanic or Latino/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Autorzy:
van Bever Y; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Groenenberg IAL; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Knapen MFCM; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Dessens AB; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Hannema SE; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Pediatric Endocrinology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Paediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Wolffenbuttel KP; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Urology and Pediatric Urology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Srebniak MI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Bruggenwirth HT; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Feb; Vol. 43 (2), pp. 162-182. Date of Electronic Publication: 2022 Aug 20.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Genetic Testing*
Pregnancy ; Female ; Humans ; Retrospective Studies ; Ultrasonography, Prenatal ; Counseling ; Genitalia/diagnostic imaging ; Prenatal Diagnosis
Czasopismo naukowe
Szczegóły
Tytuł:
Perspective on the future of genetic counseling assistants - Should it be a steppingstone or a stand-alone career?
Autorzy:
Melvill K; Department of Human Genetics, McGill University, Montreal, QC, Canada; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, QC, Canada.
Fitzpatrick J; Department of Human Genetics, McGill University, Montreal, QC, Canada.
Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, QC, Canada; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, QC, Canada. Electronic address: .
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Źródło:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Jan; Vol. 138 (1), pp. 107370. Date of Electronic Publication: 2022 Dec 28.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Humans ; Career Mobility
Czasopismo naukowe
Szczegóły
Tytuł:
Rate of manifesting carriers and other unexpected findings on carrier screening.
Autorzy:
Clevenger SK; Oncology Support Services, Morristown Medical Center, Morristown, New Jersey, USA.; Rutgers University Genetic Counseling Master's Program, Piscataway, New Jersey, USA.
Brandt JS; Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Khan SP; Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Shingala P; Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Carrick J; Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, New Jersey, USA.
Aluwalia R; Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, New Jersey, USA.
Heiman GA; Rutgers University Genetic Counseling Master's Program, Piscataway, New Jersey, USA.; Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, New Jersey, USA.
Ashkinadze E; Rutgers University Genetic Counseling Master's Program, Piscataway, New Jersey, USA.; Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Jan; Vol. 43 (1), pp. 117-125. Date of Electronic Publication: 2023 Jan 03.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Counseling*/methods
Genetic Counseling*/methods
Humans ; Genotype ; Phenotype ; Chromosome Aberrations ; Genetic Carrier Screening
Czasopismo naukowe
Szczegóły
Tytuł:
An European overview of genetic counselling supervision provision.
Autorzy:
Paneque M; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; CGPP - Centro de Genética Preditiva e Preventiva, IBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal. Electronic address: .
Guimarães L; Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal; AAJUDE - Associação de Apoio à Juventude Deficiente, Portugal.
Bengoa J; Hôpital Necker Enfants Malades, Paris, France.
Pasalodos S; Department of Medical Genetics, Complejo Hospitalario de Navarra, Universidad Publica de Navarra (UPNA), Navarra-biomed-IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra, Spain.
Cordier C; Department of Genetics, SYNLAB Genetics, Lausanne, Switzerland.
Esteban I; Clinical Genetics Department, Queen Elizabeth University Hospital. Glasgow, Scotland, United Kingdom.
Lemos C; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
Moldovan R; Department of Psychology, Babeş-Bolyai University, Romania; Division of Evolution and Genomic Sciences, University of Manchester, United Kingdom, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, UK.
Serra-Juhé C; Genetics Department, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, 08041, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2023 Apr; Vol. 66 (4), pp. 104710. Date of Electronic Publication: 2023 Jan 30.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Genetic Testing*
Humans ; Europe ; France ; Surveys and Questionnaires
Czasopismo naukowe
Szczegóły
Tytuł:
Genetic counseling considerations in cerebral palsy.
Autorzy:
Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada; Women's Health Research Institute, Vancouver, British Columbia, Canada. Electronic address: .
Guimond C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
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Źródło:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Dec; Vol. 137 (4), pp. 428-435. Date of Electronic Publication: 2021 Jul 18.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Counseling*
Cerebral Palsy*/diagnosis
Cerebral Palsy*/genetics
Pregnancy ; Female ; Humans ; Exome ; Genomics ; Genetic Testing
Czasopismo naukowe
Szczegóły
Tytuł:
Genome access and other web-based IT solutions: Genetic counseling in the digital era.
Autorzy:
Cazzaniga A; Kaleidos SCS onlus, Scientific Office, Bergamo, Italy.
Plebani M; Kaleidos SCS onlus, Scientific Office, Bergamo, Italy.
Crimi M; Kaleidos SCS onlus, Scientific Office, Bergamo, Italy.
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Źródło:
Frontiers in public health [Front Public Health] 2022 Nov 07; Vol. 10, pp. 1035316. Date of Electronic Publication: 2022 Nov 07 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
Genetic Predisposition to Disease*
Humans ; Health Personnel ; Internet
Czasopismo naukowe
Szczegóły
Tytuł:
Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.
Autorzy:
Lu Y; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Zhao S; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
He X; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Yang H; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Wang X; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Miao C; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Liu H; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Zhang X; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2022 Dec 25; Vol. 15 (1), pp. 271. Date of Electronic Publication: 2022 Dec 25.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
Homocystinuria*/genetics
Homocystinuria*/complications
Methylenetetrahydrofolate Reductase (NADPH2)*/genetics
Heterozygote*
Female ; Humans ; Male ; Pregnancy ; East Asian People ; Mutation ; Pedigree
SCR Disease Name:
Methylenetetrahydrofolate reductase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities.
Autorzy:
Wu RR; Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA. .; Duke-NUS Medical School, Programme in Health Services and Systems Research, Singapore, Singapore. .
Myers RA; Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA.
Neuner J; Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Center for Patient Care and Outcomes Research, Medical College of Wisconsin, Milwaukee, WI, USA.
McCarty C; University of Minnesota Medical School, Duluth Campus, Duluth, MN, USA.
Haller IV; Essentia Institute of Rural Health, Duluth, MN, USA.
Harry M; Essentia Institute of Rural Health, Duluth, MN, USA.
Fulda KG; The North Texas Primary Care Practice-Based Research Network and Family Medicine, University of North Texas Health Science Center, Fort Worth, TX, USA.
Dimmock D; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Rakhra-Burris T; Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA.
Buchanan A; Genomic Medicine Institute, Geisinger, Geisinger, PA, USA.
Ginsburg GS; All of Us Research Program, National Institutes of Health, Bethesda, MD, USA.
Orlando LA; Center for Applied Genomics and Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA.
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Źródło:
BMC health services research [BMC Health Serv Res] 2022 Dec 06; Vol. 22 (1), pp. 1486. Date of Electronic Publication: 2022 Dec 06.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Delivery of Health Care*
Humans ; Female ; Middle Aged ; Male ; Medical History Taking ; Risk Assessment
Czasopismo naukowe
Szczegóły
Tytuł:
The Directiveness that Dare Not Speak Its Name. Views and Attitudes of Polish Clinical Geneticists toward the Nondirectiveness Principle.
Autorzy:
Chańska W; Department of Philosophy and Bioethics, Jagiellonian University Medical College, Michałowskiego 12, 31-126, Kraków, Poland. .
Grunt-Mejer K; Faculty of Psychology and Law in Poznań, SWPS University of Social Sciences and Humanities, Kutrzeby 10, 61-719, Poznań, Poland.
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Źródło:
Journal of bioethical inquiry [J Bioeth Inq] 2022 Dec; Vol. 19 (4), pp. 557-569. Date of Electronic Publication: 2022 Sep 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
Attitude*
Pregnancy ; Female ; Humans ; Poland ; Prenatal Diagnosis ; Paternalism
Czasopismo naukowe
Szczegóły
Tytuł:
Do reproductive history and information given through genetic counselling influence patients' decisions on mosaic embryo transfer?
Autorzy:
Coll L; Reproductive Medicine Unit, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Mujer, Dexeus University Hospital, Barcelona, Spain.
Parriego M; Reproductive Medicine Unit, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Mujer, Dexeus University Hospital, Barcelona, Spain.
Palacios G; Reproductive Medicine Unit, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Mujer, Dexeus University Hospital, Barcelona, Spain.
Garcia S; Reproductive Medicine Unit, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Mujer, Dexeus University Hospital, Barcelona, Spain.
Boada M; Reproductive Medicine Unit, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Mujer, Dexeus University Hospital, Barcelona, Spain.
Coroleu B; Reproductive Medicine Unit, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Mujer, Dexeus University Hospital, Barcelona, Spain.
Polyzos NP; Reproductive Medicine Unit, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Mujer, Dexeus University Hospital, Barcelona, Spain.; Faculty of Medicine and Health Sciences, Ghent University (UZ Gent), Gent, Belgium.
Vidal F; Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Veiga A; Stem Cell Bank, Centre of Regenerative Medicine in Barcelona, L'Hospitalet de Llobregat, Spain.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2022 Dec; Vol. 42 (13), pp. 1650-1657. Date of Electronic Publication: 2022 Nov 20.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Preimplantation Diagnosis*
Pregnancy ; Humans ; Female ; Aneuploidy ; Reproductive History ; Retrospective Studies ; Genetic Testing ; Embryo Transfer ; Mosaicism ; Blastocyst
Czasopismo naukowe
Szczegóły
Tytuł:
Referral, Genetic Counselling, and BRCA Testing in the Manitoba High-Grade Serous Ovarian Cancer Population, 2004-2019.
Autorzy:
Winchar K; Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, MB R3A 1R9, Canada.
Lambert P; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, MB R3E OV9, Canada.; Epidemiology and Cancer Registry, CancerCare Manitoba, Winnipeg, MB R3E OV9, Canada.
McManus KJ; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, MB R3E OV9, Canada.; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB R3E OV9, Canada.
Chodirker B; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB R3E OV9, Canada.; Pediatrics and Child Health (Section of Genetics and Metabolism), University of Manitoba, Winnipeg, MB R3E OV9, Canada.
Kean S; Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, MB R3A 1R9, Canada.
Serfas K; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB R3E OV9, Canada.
Decker K; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, MB R3E OV9, Canada.; Epidemiology and Cancer Registry, CancerCare Manitoba, Winnipeg, MB R3E OV9, Canada.
Nachtigal MW; Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, MB R3A 1R9, Canada.; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, MB R3E OV9, Canada.; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB R3E OV9, Canada.
Altman AD; Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, MB R3A 1R9, Canada.; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, MB R3E OV9, Canada.
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Źródło:
Current oncology (Toronto, Ont.) [Curr Oncol] 2022 Nov 30; Vol. 29 (12), pp. 9365-9376. Date of Electronic Publication: 2022 Nov 30.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Ovarian Neoplasms*/epidemiology
Ovarian Neoplasms*/genetics
Ovarian Neoplasms*/pathology
Humans ; Female ; Genes, BRCA1 ; Cohort Studies ; Genes, BRCA2 ; Manitoba/epidemiology ; Referral and Consultation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
Autorzy:
Capalbo A; Juno Genetics, Valencia, Spain. .
Gabbiato I; Department of Lab Medicine, Unit of Clinical Genetics and Epidemiology University Hospital of Padova, Padua, Italy.
Caroselli S; Igenomix Italia, Vicenza, Italy.
Picchetta L; Juno Genetics, Valencia, Spain.
Cavalli P; Humanitas Research Hospital, Rozzano, Milan, Italy.
Lonardo F; UOSD Genetica Medica, AORN 'San Pio' - P.O. 'G. Rummo', Benevento, Italy.
Bianca S; Genetica Medica, ARNAS Garibaldi, Catania, Italy.
Giardina E; Laboratorio Di Medicina Genomica - UILDM Università Degli Studi Di Roma 'Tor Vergata', Fondazione Santa Lucia-IRCCS, Rome, Italy.
Zuccarello D; Department of Lab Medicine, Unit of Clinical Genetics and Epidemiology University Hospital of Padova, Padua, Italy.
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Źródło:
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2022 Nov; Vol. 39 (11), pp. 2581-2593. Date of Electronic Publication: 2022 Nov 12.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Counseling*
Genetic Testing*
Pregnancy ; Female ; Humans ; Australia ; Health Personnel ; Reproduction
Czasopismo naukowe
Szczegóły
Tytuł:
Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio-economic population.
Autorzy:
Battese Ellis K; Genea, Deakin, Australian Capital Territory, Australia.
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Źródło:
The Australian & New Zealand journal of obstetrics & gynaecology [Aust N Z J Obstet Gynaecol] 2022 Oct; Vol. 62 (5), pp. 674-680. Date of Electronic Publication: 2022 May 09.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Pregnant Women*
Female ; Humans ; Pregnancy ; Prenatal Diagnosis/methods ; Referral and Consultation ; Socioeconomic Factors ; Spiperone/analogs & derivatives ; Telephone
Czasopismo naukowe
Szczegóły
Tytuł:
Integrating hereditary breast and ovarian cancer genetic counselling and testing into mainstream clinical practice: Legal and ethical challenges.
Autorzy:
Charron M; Centre of Genomics and Policy (CGP), McGill University, Montreal, Québec, Canada. Electronic address: .
Kaiser B; Centre of Genomics and Policy (CGP), McGill University, Montreal, Québec, Canada.
Dauge A; Centre of Genomics and Policy (CGP), McGill University, Montreal, Québec, Canada.
Gallois H; Centre of Genomics and Policy (CGP), McGill University, Montreal, Québec, Canada.
Lapointe J; Oncology Division, CHU de Québec - Université Laval Research Center, Québec, Canada.
Dorval M; Faculty of Pharmacy, Université Laval, Researcher Oncology Division, CHU de Québec - Université Laval Research Center, Canada.
Nabi H; Faculty of Medicine, Université Laval, Researcher Oncology Division, CHU de Québec - Université Laval Research Center, Canada.
Joly Y; Centre of Genomics and Policy (CGP), McGill University, Montreal, Québec, Canada.
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Źródło:
Critical reviews in oncology/hematology [Crit Rev Oncol Hematol] 2022 Oct; Vol. 178, pp. 103797. Date of Electronic Publication: 2022 Aug 27.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Counseling*
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/genetics
Adult ; Carcinoma, Ovarian Epithelial ; Confidentiality ; Female ; Genetic Testing ; Humans
Czasopismo naukowe
Szczegóły
Tytuł:
The Role of Race and Insurance Status in Access to Genetic Counseling and Testing Among High-Risk Breast Cancer Patients.
Autorzy:
Choi JJ; Boston Medical Center, Boston, MA, USA.
Fikre T; Boston Medical Center, Boston, MA, USA.
Fischman A; Graduate Medical Sciences, Boston University School of Medicine, Boston, MA, USA.
Buck AK; Boston Medical Center, Boston, MA, USA.; Graduate Medical Sciences, Boston University School of Medicine, Boston, MA, USA.
Ko NY; Boston Medical Center, Boston, MA, USA.; Department of Medicine, Section of Hematology Oncology, Boston University School of Medicine, Boston, MA, USA.
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Źródło:
The oncologist [Oncologist] 2022 Oct 01; Vol. 27 (10), pp. 832-838.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/diagnosis
Breast Neoplasms*/genetics
Breast Neoplasms*/psychology
Genetic Counseling*
Female ; Genetic Testing ; Humans ; Insurance Coverage ; Insurance, Health ; Poly(ADP-ribose) Polymerase Inhibitors
Czasopismo naukowe
Szczegóły
Tytuł:
Uptake of genetic counseling and testing in a clinic-based population of women with breast cancer.
Autorzy:
Wehbe A; Wayne State University School of Medicine, Detroit, Michigan, USA.
Manning M; Population Studies and Disparities Research Program, Barbara Ann Karmanos Cancer Institute, Detroit, Michigan, USA.; Department of Psychology, Oakland University, Rochester Hills, Michigan, USA.
Assad H; Population Studies and Disparities Research Program, Barbara Ann Karmanos Cancer Institute, Detroit, Michigan, USA.; Department of Oncology, Barbara Ann Karmanos Cancer Institute, Detroit, Michigan, USA.
Purrington KS; Population Studies and Disparities Research Program, Barbara Ann Karmanos Cancer Institute, Detroit, Michigan, USA.; Department of Oncology, Barbara Ann Karmanos Cancer Institute, Detroit, Michigan, USA.
Simon MS; Population Studies and Disparities Research Program, Barbara Ann Karmanos Cancer Institute, Detroit, Michigan, USA.; Department of Oncology, Barbara Ann Karmanos Cancer Institute, Detroit, Michigan, USA.
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Źródło:
Cancer medicine [Cancer Med] 2022 Sep; Vol. 11 (17), pp. 3304-3311. Date of Electronic Publication: 2022 Mar 23.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/diagnosis
Breast Neoplasms*/genetics
Breast Neoplasms*/therapy
Genetic Counseling*
Aged ; Female ; Genetic Testing ; Humans ; Medicare ; Referral and Consultation ; United States
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 16819

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