نتائج البحث - "Rolf Zetterström"

المصدر: Journal of Allergy and Clinical Immunology, 149(4), 1428-1436. MOSBY-ELSEVIER
The Journal of allergy and clinical immunology, vol 149, iss 4

مصطلحات موضوعية: Newborn screening, medicine.medical_specialty, Allergy, Standardization, Immunology, Psychological intervention, Disease, severe combined immunodeficiency terminology, T-cell receptor excisions circles, Terminology, Neonatal Screening, Clinical Research, Lymphopenia, Infant Mortality, Immunology and Allergy, Medicine, Humans, Child, case definitions, Pediatric, Severe combined immunodeficiency, business.industry, Prevention, Public health, Data Collection, Infant, Newborn, Infant, Health Services, Perinatal Period - Conditions Originating in Perinatal Period, Newborn, medicine.disease, Good Health and Well Being, Systematic review, Family medicine, Severe Combined Immunodeficiency, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0729ffb89454a1c9c0ed633961ef2ea2Test
https://pubmed.ncbi.nlm.nih.gov/34537207Test

4

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

المصدر: International Journal of Neonatal Screening
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 23, p 23 (2021)

مصطلحات موضوعية: 0301 basic medicine, Multivariate statistics, endocrine system, endocrine system diseases, Computer science, dual scatter plot, thyroid-stimulating hormone, 030209 endocrinology & metabolism, Pediatrics, Article, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Covariate, Statistics, False positive paradox, medicine, false positives, thyroxine, Polynomial regression, Newborn screening, newborn screening, covariate-adjusted reference intervals, Obstetrics and Gynecology, congenital hypothyroidism, bioinformatics, Collaborative Laboratory Integrated Reports (CLIR), single condition tool, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, Specimen collection, Sequential analysis, Pediatrics, Perinatology and Child Health, hormones, hormone substitutes, and hormone antagonists

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93658e7f01026cb6de2674b4f7629447Test

5

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

المؤلفون: Tommy Stödberg, Magnus Nordenskjöld, Emma Tham, Virpi Töhönen, Karin Naess, Bianca Tesi, Eliane Sardh, Erik Björck, Martin Engvall, Helena Malmgren, Josephine Wincent, Adam Rosenbaum, Peter Gustavsson, Sofie Vonlanthen, Anders Jemt, Måns Magnusson, Helene Bruhn, Anna Wredenberg, Mikael Oscarson, Sofia Ygberg, Kristina Lagerstedt-Robinson, Erik Iwarsson, Carolina Backman Johansson, Christoph Freyer, Michela Barbaro, Ellika Sahlin, Henrik Stranneheim, Anna Lindstrand, Anna Wedell, Ann Nordgren, Ulrika von Döbeln, Britt-Marie Anderlid, Mikael Laaksonen, Maria Pettersson, Henrik Arnell, Nicole Lesko, Rolf Zetterström, Chiara Rasi, Ann-Charlotte Wikström, Malin Kvarnung, Valtteri Wirta, Sara Lind Enoksson, Giedre Grigelioniene, Maria Johansson Soller, Anna Hammarsjö, Ola Winqvist, Daphne Vassiliou, Håkan Thonberg, Per Marits, Jesper Eisfeldt, Daniel Nilsson, Maritta Hellström-Pigg

المصدر: Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, DNA Copy Number Variations, Inheritance Patterns, lcsh:Medicine, Genomics, Disease, Cohort Studies, Genetic Heterogeneity, Rare Diseases, Internal medicine, Genetics, medicine, Humans, Medical diagnosis, Indel, Monogenic disease, Molecular Biology, Genetics (clinical), Whole genome sequencing, Sweden, Whole Genome Sequencing, business.industry, Information Dissemination, Research, lcsh:R, High-Throughput Nucleotide Sequencing, Uniparental Disomy, medicine.disease, Human genetics, Uniparental disomy, Single nucleotide variant, lcsh:Genetics, Clinical diagnostics, Mutation, Molecular Medicine, business, Delivery of Health Care, Rare disease, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f092cdb3016d39ea79ac98c6eb064dccTest
http://europepmc.org/articles/PMC7968334Test

6

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

المؤلفون: Maximilian Zeyda, Viktor Kozich, Dimitris Platis, Damilya Salimbayeva, Patricia Borde, Jurgita Songailiene, Vyacheslav Mitkin, Dobry Dimitrov, Basak Tezel, David Cheillan, Nazi Tabatadze, Tatjana Milenkovic, Rolf Zetterström, Loretta O'Grady, Urh Groselj, Mirjana Kocova, Leifur Franzson, François Boemer, Natalia Usurelu, Ian Brincat, Maria Knapkova, Anastasiia Kremezna, James R. Bonham, Eugènie H. B. M. Dekkers, Peter C. J. I. Schielen, Mira Samardzic, Parsla Vevere, Danijela Ramadza, Shlomo Almashanu, Rolf D. Pettersen, Ruth Mikelsaar, Mariusz Ołtarzewski, Vjosa Kotori, Florentina Moldovanu, Marios Vogazianos, Ralph Fingerhut, Raquel Yahyaoui, Ildikó Szatmári, David M. Hougaard, J. Gerard Loeber, Uta Ceglarek, Riikka Kurkijärvi, Alma Toromanovic, Irina Tovmasyan, Markhabo Shamsiddinova, Giancarlo la Marca, Laura Vilarinho

المساهمون: International Society for Neonatal Screening Office [Bilthoven, The Netherlands] (ISNSO), Institute of Child Health [Athens, Greece], Karolinska University Hospital [Solna, Sweden] (KUH), Newborn Screening Laboratories [Ramat Gan, Israel] (NSL), C.H.U. Sart Tilman [Liège], Sheffield Children's NHS Foundation Trust, Laboratoire National de Santé [Luxembourg] (LNS), Mater Dei Hospital [Malta], Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), National Institute for Public Health and the Environment [Bilthoven] (RIVM), Hospital Maichin Dom [Sofia, Bulgaria], University Children’s Hospital Zurich, Landspitali National University Hospital of Iceland, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Statens Serum Institute [Copenhagen], Matej Bel University (UMB), Children's University Hospital [Banska Bystrica, Slovakia] (CUH-BB), Faculté de Skopje, University of Pristina-Kosovo, First Faculty of Medicine Charles University [Prague], Clinical and Diagnostic Center 'Pharmbiotest' [Rubizhne, Ukraine] (CDCP), Turku University Hospital (TYKS), Meyer Children's Hospital [Florence, Italie], University of Tartu, Mother and Child Health Care Institute of Serbia [Belgrade, Serbia] (MCHCI), Neonatal Screening Center [Moscow, Russia] (NSC), National Institute for Mother & Child Health [Bucharest, Romania] (NIMCH), University Hospital Leipzig, Newborn Blood Spot Screening Laboratory [Dublin , Ireland] (NBSSL), National Research Institute of Mother and Child [Warsaw, Poland], Oslo University Hospital [Oslo], University Hospital Centre Zagreb, Partenaires INRAE, Scientific centre of Gynaecology, Obstetrics and Perinatology [Almaty, Kazakhstan] (SGOP), International Science and Technology Center [Almaty, Kazakhstan] ( ISTC), Institute for Sick Children [Podgorica, Montenegro] (ISC), Republican Center Mother and Child Screening [Tashkent, Uzbekistan] (RCMCS), Vilnius University [Vilnius], Children's Clinic [Budapest, Hungary] (CC), NeugoGenetic and Metabolic Center [Tbilisi, Georgia] (NGMC), Child and Adolescent Health Department [Ankara, Turkey] (CAHD), Univerzitet u Tuzli [Tuzla, Bosnie-Herzégovine], Arbes Health Care Centre [Yerevan, Armenia] (AHCC), National Centre for Public Health [Chisinau, Republic of Moldova], Children's Clinical University Hospital [Riga, Latvia] (CCUH), Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal] (INSA), Limassol General Hospital, Instituto de Investigación Biomédica [Malaga, Spain] (IBIMA), Medizinische Universität Wien = Medical University of Vienna, CarMeN, laboratoire

المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)

مصطلحات موضوعية: 0301 basic medicine, Economic growth, medicine.medical_specialty, ISNS, International Society for Neonatal Screening, congenital endocrine disorders, congenital metabolic disorders, dried blood spot screening, neonatal screening, newborn screening, public health, rare diseases, [SDV]Life Sciences [q-bio], 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Political science, medicine, ddc:610, Newborn screening, Public health, lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, Isns, 3. Good health, [SDV] Life Sciences [q-bio], Pediatrics, Perinatology and Child Health, newborn screening, Europe, ISNS, rare diseases, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8d05e2876f51b49ff9cea9d13f73c4Test
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdfTest

7

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

المؤلفون: Leif Karlsson, Anna Nordenström, Svetlana Lajic, Henrik Falhammar, Rolf Zetterström

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 71, p 71 (2020)
International Journal of Neonatal Screening
Volume 6
Issue 3

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, DBS, PPV, 030209 endocrinology & metabolism, 21-hydroxylase deficiency, 030105 genetics & heredity, urologic and male genital diseases, Article, 03 medical and health sciences, 0302 clinical medicine, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Immunology and Microbiology (miscellaneous), Disease severity, medicine, neonatal screening, congenital adrenal hyperplasia, Congenital adrenal hyperplasia, CYP21A2, Newborn screening, business.industry, Incidence (epidemiology), CAH, lcsh:RJ1-570, Obstetrics and Gynecology, nutritional and metabolic diseases, lcsh:Pediatrics, medicine.disease, Predictive value, female genital diseases and pregnancy complications, Dried blood spot, Pediatrics, Perinatology and Child Health, positive predictive value, dried blood spots, business, Salt-wasting

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09166f490548401f9b77a897cb692d97Test
https://www.mdpi.com/2409-515X/6/3/71Test

8

Performance of expanded newborn screening in norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 51, p 51 (2020)
International Journal of Neonatal Screening, 6(3):51. MDPI Multidisciplinary Digital Publishing Institute
Volume 6
Issue 3

مصطلحات موضوعية: 0301 basic medicine, Newborn screening, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, Screening Result, Health outcomes, Article, 03 medical and health sciences, Immunology and Microbiology (miscellaneous), Dried blood spots, Medicine, Biochemical testing, Dried blood, Outcome, business.industry, Incidence (epidemiology), Disease spectrum, lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710, CLIR, Predictive value, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710, 030104 developmental biology, Cut-off values, Pediatrics, Perinatology and Child Health, Second-tier DNA testing, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::572514e14b18d1cd463babf6d8421538Test
https://doi.org/10.3390/ijns6030051Test

9

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

المؤلفون: Carolina Backman-Johansson, Rolf Zetterström, Martin Engvall, Anna Wedell, Henrik Åhlman, Yvonne Nordqvist, Annika Ohlsson, Ulrika von Döbeln, Lene Sörensen, Karin Naess

المصدر: International Journal of Neonatal Screening
Volume 6
Issue 2
International Journal of Neonatal Screening, Vol 6, Iss 42, p 42 (2020)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::272be9bc2a15ddf76200b0bc7c2c69a4Test
https://pubmed.ncbi.nlm.nih.gov/33073033Test

10

The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients

المؤلفون: Rolf Zetterström, Henrik Falhammar, Svetlana Lajic, Anna Nordenström, Leif Karlsson

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 68, p 68 (2020)
International Journal of Neonatal Screening

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8472aaa71a47a8f371f65135fd199a39Test
https://doi.org/10.3390/ijns6030068Test

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