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Tytuł:
Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.
Autorzy:
Tobik K; Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Orland KM; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Zhang X; Department of Pediatrics, Division of Pediatric Cardiology, School of Medicine and Public Health, University of Wisconsin, CSC H6/516B MC 4108, Madison, WI, 53792, USA.
Garcia K; Genetic Counseling Services, University of Wisconsin Hospital and Clinics, Madison, WI, USA.
Peterson AL; Department of Pediatrics, Division of Pediatric Cardiology, School of Medicine and Public Health, University of Wisconsin, CSC H6/516B MC 4108, Madison, WI, 53792, USA. .
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Źródło:
Maternal and child health journal [Matern Child Health J] 2023 Jun; Vol. 27 (6), pp. 978-983. Date of Electronic Publication: 2023 Mar 25.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Hyperlipoproteinemia Type II*/diagnosis
Hyperlipoproteinemia Type II*/genetics
Child ; Humans ; Infant, Newborn ; Genetic Testing ; Mass Screening/methods ; Parents ; Attitude
Czasopismo naukowe
Szczegóły
Tytuł:
Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology.
Autorzy:
Yu M; School of Medicine and Health Management, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.
Xu J; School of Medicine and Health Management, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China. .; Hubei Provincial Research Center for Health Technology Assessment, Wuhan, China. .
Song X; Department of Family Development and Maternal and Child Health, Shenzhen Municipal Health Commission, Shenzhen, China.
Du J; Department of Science and Education, the Fourth Affiliated Hospital of School of Medicine, Zhejiang University, Zhejiang, China.
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Źródło:
BMC health services research [BMC Health Serv Res] 2022 Aug 15; Vol. 22 (1), pp. 1039. Date of Electronic Publication: 2022 Aug 15.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*/methods
Tandem Mass Spectrometry*
Cost-Benefit Analysis ; Humans ; Infant, Newborn ; Mass Screening ; Quality-Adjusted Life Years ; Technology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.
Autorzy:
Woudstra AJ; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
van den Heuvel LM; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Clinical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
van Vliet-Lachotzki EH; Dutch Patient Alliance for Rare and Genetic Diseases (VSOP), Soest, The Netherlands.
Dondorp W; Department of Health, Ethics & Society, Maastricht University, Research Schools CAPHRI and GROW, Maastricht, The Netherlands.
Lakeman P; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands.
Haverman L; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Psychosocial Department, Amsterdam UMC, location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.
van Langen IM; Department of Clinical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Henneman L; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2022 Aug; Vol. 42 (9), pp. 1201-1210. Date of Electronic Publication: 2022 Jul 09.
Typ publikacji:
Journal Article
MeSH Terms:
Mass Screening*
Parents*
Child ; Family ; Genetic Carrier Screening ; Humans ; Surveys and Questionnaires
Czasopismo naukowe
Szczegóły
Tytuł:
Towards a national pre-school vision screening programme.
Autorzy:
Crippa J; Children's Eye Centre, Sydney, New South Wales, Australia.; Discipline of Orthoptics, Graduate School of Health, University of Technology, Sydney, New South Wales, Australia.
Flaherty M; Children's Eye Centre, Sydney, New South Wales, Australia.; Department of Ophthalmology, Children's Hospital Westmead, Sydney, New South Wales, Australia.; Discipline of Ophthalmology, School of Medicine, University of Sydney, Sydney, New South Wales, Australia.
Silveira S; Next Sense Institute, NextSense, Sydney, New South Wales, Australia.; Macquarie School of Education, Faculty of Arts, Macquarie University, Sydney, New South Wales, Australia.
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Źródło:
Journal of paediatrics and child health [J Paediatr Child Health] 2022 Jun; Vol. 58 (6), pp. 948-952. Date of Electronic Publication: 2022 Apr 28.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Vision Screening*/methods
Australia ; Child, Preschool ; Humans ; Mass Screening ; New South Wales
Czasopismo naukowe
Szczegóły
Tytuł:
Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.
Autorzy:
Veneruso I; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.; CEINGE-Biotecnologie Avanzate, Via G. Salvatore 486, 80145 Naples, Italy.
Di Resta C; Università Vita-Salute San Raffaele, Via Olgettina 58, 20132 Milan, Italy.
Tomaiuolo R; Università Vita-Salute San Raffaele, Via Olgettina 58, 20132 Milan, Italy.
D'Argenio V; CEINGE-Biotecnologie Avanzate, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, Via di Val Cannuta 247, 00166 Rome, Italy.
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Źródło:
Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2022 Mar 21; Vol. 58 (3). Date of Electronic Publication: 2022 Mar 21.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Counseling*
Mass Screening*
Child ; Ethnicity ; Genetic Carrier Screening/methods ; Humans ; Infant, Newborn ; Mutation
Czasopismo naukowe
Szczegóły
Tytuł:
Worsening vision at age 4-5 in England post-COVID: Evidence from a large database of vision screening data.
Autorzy:
Shah R; Institute of Optometry, London, UK.; Centre for Applied Vision Research, City, University of London, London, UK.
Edgar DF; Institute of Optometry, London, UK.; Centre for Applied Vision Research, City, University of London, London, UK.
Evans BJW; Institute of Optometry, London, UK.; Centre for Applied Vision Research, City, University of London, London, UK.
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Źródło:
Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) [Ophthalmic Physiol Opt] 2023 May; Vol. 43 (3), pp. 454-465. Date of Electronic Publication: 2023 Mar 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Vision Screening*
COVID-19*/epidemiology
Refractive Errors*/diagnosis
Refractive Errors*/epidemiology
Myopia*/diagnosis
Myopia*/epidemiology
Vision, Low*
Child ; Humans ; Child, Preschool ; Adolescent ; Cross-Sectional Studies ; Retrospective Studies ; Prevalence ; England/epidemiology
Czasopismo naukowe
Szczegóły
Tytuł:
Accuracy and modification of the STOP-bang questionnaire for screening patients with obstructive sleep apnea in China.
Autorzy:
Wang L; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
Zhao W; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
Liang C; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
Yan X; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
Zhang H; Sleep Monitoring Center, The First Hospital of Jinzhou Medical University, Jinzhou, China.
Dai H; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
Yu H; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
Zhang H; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
An H; Sleep Monitoring Center, The First Hospital of Jinzhou Medical University, Jinzhou, China.
Zhao Y; Department of Nursing, Jinzhou Medical University, Jinzhou, China.
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Źródło:
Journal of sleep research [J Sleep Res] 2023 Jun; Vol. 32 (3), pp. e13781. Date of Electronic Publication: 2022 Nov 13.
Typ publikacji:
Journal Article
MeSH Terms:
Mass Screening*/methods
Sleep Apnea, Obstructive*/diagnosis
Sleep Apnea, Obstructive*/epidemiology
Male ; Humans ; Female ; Polysomnography ; Surveys and Questionnaires ; China/epidemiology
Czasopismo naukowe
Szczegóły
Tytuł:
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Autorzy:
Weiss KJ; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
Berger U; Institute for Medical Information Processing, Biometry and Epidemiology, Ludwig-Maximilians-University, Munich, Germany.
Haider M; Institute for Medical Information Processing, Biometry and Epidemiology, Ludwig-Maximilians-University, Munich, Germany.
Wagner M; Institute of Human Genetics, School of Medicine, Technical University, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Märtner EMC; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
Regenauer-Vandewiele S; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
Lotz-Havla A; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
Schuhmann E; Labor Becker MVZ GbR, Newborn Screening Unit, Munich, Germany.
Röschinger W; Labor Becker MVZ GbR, Newborn Screening Unit, Munich, Germany.
Maier EM; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
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Źródło:
Clinical genetics [Clin Genet] 2023 Jun; Vol. 103 (6), pp. 644-654. Date of Electronic Publication: 2023 Mar 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neonatal Screening*
Lipid Metabolism, Inborn Errors*/genetics
Humans ; Infant, Newborn ; Genotype ; Carnitine ; Amino Acids ; Genetic Association Studies ; Acyl-CoA Dehydrogenase/chemistry ; Acyl-CoA Dehydrogenase/genetics
SCR Disease Name:
Medium chain acyl CoA dehydrogenase deficiency
Czasopismo naukowe
Szczegóły
Tytuł:
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Autorzy:
Tise CG; Division of Medical Genetics, Stanford University, Stanford, California, USA.
Verscaj CP; Division of Medical Genetics, Stanford University, Stanford, California, USA.
Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente Northern California, Oakland, California, USA.
Woods J; Division of Medical Genetics, Stanford University, Stanford, California, USA.; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California, USA.
Lee CU; Division of Medical Genetics, Stanford University, Stanford, California, USA.
Enns GM; Division of Medical Genetics, Stanford University, Stanford, California, USA.
Stander Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Hall PL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Cowan TM; Department of Pathology, Stanford University, Stanford, California, USA.
Cusmano-Ozog KP; Department of Pathology, Stanford University, Stanford, California, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1492-1501. Date of Electronic Publication: 2023 Mar 08.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Mitochondrial Proton-Translocating ATPases*/genetics
Mitochondrial Diseases*/blood
Mitochondrial Diseases*/diagnosis
Mitochondrial Diseases*/genetics
Humans ; Infant, Newborn ; Citrulline/blood ; Pedigree ; Urea Cycle Disorders, Inborn/diagnosis
Czasopismo naukowe
Szczegóły
Tytuł:
Validity and Reliability of Vis-Screen Application: A Smartphone-Based Distance Vision Testing for Visual Impairment and Blindness Vision Screening.
Autorzy:
Abdul Rahman SNA; Faculty of Medicine, Medical Campus, Universiti Sultan Zainal Abidin, Jalan Sultan Mahmud, Kuala Terengganu 20400, Terengganu, Malaysia.
Naing NN; Faculty of Medicine, Medical Campus, Universiti Sultan Zainal Abidin, Jalan Sultan Mahmud, Kuala Terengganu 20400, Terengganu, Malaysia.
Othman AM; Faculty of Medicine, Medical Campus, Universiti Sultan Zainal Abidin, Jalan Sultan Mahmud, Kuala Terengganu 20400, Terengganu, Malaysia.
Mohamad Z; Faculty of Informatics and Computing, Besut Campus, Universiti Sultan Zainal Abidin, Besut 22200, Terengganu, Malaysia.
Ibrahim TMM; Infostructure & Network Management Center, Gong Badak Campus, Universiti Sultan Zainal Abidin, Kuala Nerus 21300, Terengganu, Malaysia.
Hashim SE; Faculty of Medicine, Medical Campus, Universiti Sultan Zainal Abidin, Jalan Sultan Mahmud, Kuala Terengganu 20400, Terengganu, Malaysia.
Baig AA; University Institute of Public Health, Faculty of Allied Health Sciences, The University of Lahore, Lahore 54590, Pakistan.
Wong LS; Faculty of Health and Life Sciences, INTI International University, Nilai 71800, Negeri Sembilan, Malaysia.
Dewadas HD; Centre for Biomedical and Nutrition Research, Universiti Tunku Abdul Rahman, Jalan Universiti, Banda Barat, Kampar 31900, Perak, Malaysia.; Department of Business and Public Administration, Faculty of Business and Finance, Universiti Tunku Abdul Rahman, Jalan Universiti, Banda Barat, Kampar 31900, Perak, Malaysia.
Selvaraj S; Faculty of Dentistry, AIMST University, Bedong 08100, Kedah, Malaysia.
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Źródło:
Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2023 May 10; Vol. 59 (5). Date of Electronic Publication: 2023 May 10.
Typ publikacji:
Journal Article
MeSH Terms:
Smartphone*
Vision Screening*
Humans ; Adult ; Cross-Sectional Studies ; Reproducibility of Results ; Blindness/diagnosis
Czasopismo naukowe
Szczegóły
Tytuł:
Molecular genetic screening of full-term small for gestational age.
Autorzy:
Zhang S; Department of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu Province, China.
Zhou L; Department of Medical Genetics, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu Province, China.
Zhang L; Department of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu Province, China.
Wang Y; Department of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu Province, China. czfy_.
Wang H; Department of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu Province, China. .
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Źródło:
BMC pediatrics [BMC Pediatr] 2023 May 05; Vol. 23 (1), pp. 217. Date of Electronic Publication: 2023 May 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neonatal Screening*/methods
Infant, Newborn, Diseases*
Infant ; Female ; Humans ; Infant, Newborn ; Child ; Gestational Age ; Quality of Life ; Genetic Testing ; Fetal Growth Retardation
Czasopismo naukowe
Szczegóły
Tytuł:
BASH-GN: a new machine learning-derived questionnaire for screening obstructive sleep apnea.
Autorzy:
Huo J; Biomedical Engineering, The University of Arizona, Tucson, AZ, USA.
Quan SF; Division of Sleep and Circadian Disorders, Departments of Medicine and Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Asthma and Airway Disease Research Center, College of Medicine, The University of Arizona, Tucson, AZ, USA.
Roveda J; Biomedical Engineering, The University of Arizona, Tucson, AZ, USA.; Department of Electrical and Computer Engineering, The University of Arizona, 1230 E Speedway Blvd, Tucson, AZ, 85719, USA.; BIO5 Institute, The University of Arizona, Tucson, AZ, USA.
Li A; Department of Electrical and Computer Engineering, The University of Arizona, 1230 E Speedway Blvd, Tucson, AZ, 85719, USA. .; BIO5 Institute, The University of Arizona, Tucson, AZ, USA. .
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Źródło:
Sleep & breathing = Schlaf & Atmung [Sleep Breath] 2023 May; Vol. 27 (2), pp. 449-457. Date of Electronic Publication: 2022 Apr 28.
Typ publikacji:
Journal Article
MeSH Terms:
Mass Screening*
Sleep Apnea, Obstructive*/diagnosis
Humans ; ROC Curve ; Surveys and Questionnaires ; Machine Learning
Czasopismo naukowe
Szczegóły
Tytuł:
Evaluating Policy Consistency in Preparticipation Physical Evaluations for High School Athletes.
Autorzy:
Smith A; Andrea Smith, Assistant Clinical Professor, College of Nursing, Auburn University, Auburn, AL. Electronic address: .
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Źródło:
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners [J Pediatr Health Care] 2023 May-Jun; Vol. 37 (3), pp. 315-318. Date of Electronic Publication: 2023 Jan 09.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Mass Screening*
Athletes*
Humans ; Schools ; Death, Sudden, Cardiac/prevention & control ; Physical Examination ; Electrocardiography
Czasopismo naukowe
Szczegóły
Tytuł:
Identification of small molecule inhibitors against MMP-14 via High-Throughput screening.
Autorzy:
Lee H; Department of Pharmaceutical Sciences, College of Pharmacy, University of Illinois at Chicago, Chicago, IL 60607, USA; Biophysics Core at Research Resource Center, University of Illinois at Chicago, Chicago, IL 60607, USA.
Youn I; Department of Pharmaceutical Sciences, College of Pharmacy, University of Illinois at Chicago, Chicago, IL 60607, USA.
Demissie R; Department of Pharmaceutical Sciences, College of Pharmacy, University of Illinois at Chicago, Chicago, IL 60607, USA; Biophysics Core at Research Resource Center, University of Illinois at Chicago, Chicago, IL 60607, USA.
Vaid TM; Department of Pharmaceutical Sciences, College of Pharmacy, University of Illinois at Chicago, Chicago, IL 60607, USA.
Che CT; Department of Pharmaceutical Sciences, College of Pharmacy, University of Illinois at Chicago, Chicago, IL 60607, USA.
Azar DT; Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, IL 60612, USA.
Han KY; Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, IL 60612, USA. Electronic address: .
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Źródło:
Bioorganic & medicinal chemistry [Bioorg Med Chem] 2023 May 01; Vol. 85, pp. 117289. Date of Electronic Publication: 2023 Apr 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
High-Throughput Screening Assays*
Clioquinol*
Humans ; Matrix Metalloproteinase 14 ; Matrix Metalloproteinase Inhibitors/chemistry ; Matrix Metalloproteinases/metabolism
Czasopismo naukowe
Szczegóły
Tytuł:
Risk prediction for advanced neoplasia using longitudinal adherence measures to fecal immunochemical test-based colorectal cancer screening programs.
Autorzy:
de Jonge L; Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. Electronic address: .
Riggi E; Epidemiology and Screening Unit - CPO, University Hospital Città della Salute e della Scienza, Turin, Italy.
van Duuren LA; Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Toes-Zoutendijk E; Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Campari C; Screening Unit, AUSL IRCCS Reggio Emilia, Reggio Emilia, Italy.
Sassatelli R; Gastroenterology and Digestive Endoscopy Unit, IRCCS Santa Maria Nuova, Reggio Emilia, Italy.
Arrigoni A; Diagnostic and Interventional Digestive Endoscopy, FPO-IRCCS Candiolo Cancer Institute, Turin, Italy.
Orione L; Screening organisation and evaluation Unit, ASL CN1, Cuneo, Italy.
Lansdorp-Vogelaar I; Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Senore C; Epidemiology and Screening Unit - CPO, University Hospital Città della Salute e della Scienza, Turin, Italy.
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Źródło:
Preventive medicine [Prev Med] 2023 May; Vol. 170, pp. 107488. Date of Electronic Publication: 2023 Mar 16.
Typ publikacji:
Journal Article
MeSH Terms:
Mass Screening*
Colorectal Neoplasms*/diagnosis
Humans ; Pilot Projects ; Early Detection of Cancer ; Occult Blood ; Colonoscopy
Czasopismo naukowe
Szczegóły
Tytuł:
Screening methods for congenital anomalies in low and lower-middle income countries: A systematic review.
Autorzy:
Seyi-Olajide JO; Pediatric Surgery Unit, Department of Surgery, Lagos University Teaching Hospital, Lagos, Nigeria. Electronic address: .
Ma X; Harvey E. Beardmore Division of Pediatric Surgery, The Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada; Division of Plastic Surgery, Universite de Montreal, Montreal, QC, Canada.
Guadagno E; Harvey E. Beardmore Division of Pediatric Surgery, The Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
Ademuyiwa A; Pediatric Surgery Unit, Department of Surgery, Lagos University Teaching Hospital, Lagos, Nigeria; Department of Surgery, College of Medicine, University of Lagos, Lagos, Nigeria.
Poenaru D; Harvey E. Beardmore Division of Pediatric Surgery, The Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
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Źródło:
Journal of pediatric surgery [J Pediatr Surg] 2023 May; Vol. 58 (5), pp. 986-993. Date of Electronic Publication: 2023 Jan 25.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
Developing Countries*
Neonatal Screening*
Infant, Newborn ; Pregnancy ; Female ; Child ; Humans ; Risk Assessment
Czasopismo naukowe
Szczegóły
Tytuł:
Clinical application value of expanded carrier screening in the population of childbearing age.
Autorzy:
Fang Y; Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China.; Maternity and Child Health Hospital of Anhui Province, Hefei, China.
Li J; Maternity and Child Health Hospital of Anhui Province, Hefei, China.
Zhang M; Maternity and Child Health Hospital of Anhui Province, Hefei, China.
Cheng Y; Maternity and Child Health Hospital of Anhui Province, Hefei, China.
Wang C; Maternity and Child Health Hospital of Anhui Province, Hefei, China.
Zhu J; Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China. .; Maternity and Child Health Hospital of Anhui Province, Hefei, China. .
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Źródło:
European journal of medical research [Eur J Med Res] 2023 Apr 08; Vol. 28 (1), pp. 151. Date of Electronic Publication: 2023 Apr 08.
Typ publikacji:
Journal Article
MeSH Terms:
East Asian People*/genetics
Genetic Carrier Screening*
Female ; Humans ; China/epidemiology ; Prospective Studies
Czasopismo naukowe
Szczegóły
Tytuł:
The rapid high-throughput screening of ω-transaminases via a colorimetric method using aliphatic α-diketones as amino acceptors.
Autorzy:
Tang K; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China.
Dong J; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China.
Zheng Z; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China.
Zhang T; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China.
Pan H; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China.
Jia H; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China. .
Li Y; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China. .
Wei P; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Nanjing, 211816, China.
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Źródło:
Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2023 Apr; Vol. 415 (9), pp. 1733-1740. Date of Electronic Publication: 2023 Feb 25.
Typ publikacji:
Journal Article
MeSH Terms:
Transaminases*/chemistry
Transaminases*/metabolism
High-Throughput Screening Assays*
Colorimetry ; Diacetyl ; Amino Acids ; Amines ; Ketones
Czasopismo naukowe
Szczegóły
Tytuł:
Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening.
Autorzy:
Soomann M; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland. .
Prader S; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Pachlopnik Schmid J; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Güngör T; Division of Stem Cell Transplantation and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Trück J; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
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Źródło:
Journal of clinical immunology [J Clin Immunol] 2023 Apr; Vol. 43 (3), pp. 554-556. Date of Electronic Publication: 2023 Jan 04.
Typ publikacji:
Letter
MeSH Terms:
Neonatal Screening*
Severe Combined Immunodeficiency*/diagnosis
Infant, Newborn ; Humans
Opinia redakcyjna
Szczegóły
Tytuł:
High throughput screening of 0.5 million compounds against CRAF using Alpha CETSA .
Autorzy:
Rowlands H; High-throughput Screening, Discovery Sciences, R&D, AstraZeneca, Alderley Park, UK.
Tschapalda K; High-throughput Screening, Discovery Sciences, R&D, AstraZeneca, Alderley Park, UK.
Blackett C; High-throughput Screening, Discovery Sciences, R&D, AstraZeneca, Alderley Park, UK.
Ivanov D; High-throughput Screening, Discovery Sciences, R&D, AstraZeneca, Alderley Park, UK.
Plant D; High-throughput Screening, Discovery Sciences, R&D, AstraZeneca, Alderley Park, UK.
Shaw J; Discovery Biology, Discovery Sciences, R&D, AstraZeneca, Cambridge, UK.
Thomas A; Chemistry, Oncology R&D, AstraZeneca, Cambridge, UK.
Packer M; Chemistry, Oncology R&D, AstraZeneca, Cambridge, UK.
Arnold L; Pelago Bioscience AB, Solna171 65 , Sweden.
Holdgate GA; High-throughput Screening, Discovery Sciences, R&D, AstraZeneca, Alderley Park, UK. Electronic address: .
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Źródło:
SLAS discovery : advancing life sciences R & D [SLAS Discov] 2023 Apr; Vol. 28 (3), pp. 102-110. Date of Electronic Publication: 2023 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Screening Assays*/methods
Drug Discovery*/methods
Reproducibility of Results ; Cell Line, Tumor
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 477986

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