Výsledky vyhledávání - "Genetic Testing methods"

Population-based, first-tier genomic newborn screening in the maternity ward

Autoři: François Boemer Kristine Hovhannesyan Flavia Piazzon a další

Přispěvatelé: François Boemer Kristine Hovhannesyan Flavia Piazzon a další

Zdroj: Nat Med

Témata: Male, Infant, Newborn, High-Throughput Nucleotide Sequencing, Genetics & genetic processes, Pilot Projects, Genomics, Life sciences, Neonatal Screening/methods, Article, Genomics/methods, Génétique & processus génétiques, Neonatal Screening, Belgium, Sciences du vivant, Humans, Female, Genetic Testing, Prospective Studies, Genetic Testing/methods

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39875687
https://hdl.handle.net/2268/329124
https://doi.org/10.1038/s41591-024-03465-x

The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024): overview after first year of implementation (2023-2024)

Autoři: Bethany Torr Nicola Bell Ruth McCarthy a další

Zdroj: J Med Genet
Torr, B, Bell, N, McCarthy, R, Hamill, M, Nolan, J, Muralidharan, S, Andrews, C, Valganon-Petrizan, M, Clinch, Y, MacMahon, S, Morilla, A, George, A, Ryves, P, Dasani, P, Adegoroye, M, Schlecht, H, Burghel, G J, Ornadel, W, Gordon, N, Steele, L, Lukic, S, Watts, E, Evans, D G, Manchanda, R & Turnbull, C 2025, 'The NHS England Jewish BRCA Testing Programme : overview after first year of implementation (2023-2024)', Journal of Medical Genetics, vol. 62, no. 2, pp. 69-73. https://doi.org/10.1136/jmg-2024-110390

Témata: Male, Adult, 0301 basic medicine, 0303 health sciences, Genetic Counseling, Middle Aged, Breast Neoplasms/genetics, BRCA2 Protein/genetics, Germ-Line Mutation/genetics, 03 medical and health sciences, Jews/genetics, Cancer Genetics, Humans, BRCA1 Protein/genetics, Female, Genetic Predisposition to Disease, England/epidemiology, Genetic Testing/methods, Aged

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39715636
https://research.manchester.ac.uk/en/publications/2fa5d28f-5b3c-4c98-8293-a6989cfdf00e
https://doi.org/10.1136/jmg-2024-110390

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin

Autoři: Amber de Haan Mark Eijgelsheim Liffert Vogt a další

Zdroj: Nephrology Dialysis Transplantation. 40:1225-1233

Témata: Male, Adult, High-Throughput Nucleotide Sequencing, Middle Aged, Prognosis, Chronic/genetics, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Humans, Female, Prospective Studies, Renal Insufficiency, Genetic Testing/methods, Netherlands, Glomerular Filtration Rate, Follow-Up Studies

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39562282
https://pure.eur.nl/en/publications/4e3e1bd2-aef0-4a02-8fa8-b27212286aa2
https://doi.org/10.1093/ndt/gfae270

Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology

Autoři: Christinat, Yann Hamelin, Baptiste Alborelli, Ilaria a další

Přispěvatelé: Christinat, Yann Hamelin, Baptiste Alborelli, Ilaria a další

Zdroj: Virchows Arch
Virchows Archiv, vol. 485, no. 6, pp. 1033-1039

Témata: Consensus, Genetic Variation, High-Throughput Nucleotide Sequencing, 610 Medicine & health, Swiss Society of Molecular Pathology, 616.07, Guidelines, NGS reporting, 2734 Pathology and Forensic Medicine, 1307 Cell Biology, 10049 Institute of Pathology and Molecular Pathology, Neoplasms, 1312 Molecular Biology, Humans, Original Article, Genetic Testing, Pathology, Molecular, Genetic Testing/methods, Genetic Variation/genetics, Neoplasms/genetics, Neoplasms/pathology, Neoplasms/diagnosis, Pathology, Molecular/standards, Societies, Medical/standards, Switzerland, Cancer, Societies, Medical

Popis souboru: application/pdf; Christinat_VirchowsArchiv_2024.pdf - application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39443383
https://archive-ouverte.unige.ch/unige:181663
https://doi.org/10.1007/s00428-024-03951-0
https://serval.unil.ch/notice/serval:BIB_9449E5D83468
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9449E5D834688
https://serval.unil.ch/resource/serval:BIB_9449E5D83468.P001/REF.pdf

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management

Autoři: Colas, Chrystelle Guerrini-Rousseau, Léa Suerink, Manon a další

Přispěvatelé: Colas, Chrystelle Guerrini-Rousseau, Léa Suerink, Manon a další

Zdroj: Eur J Hum Genet
European Journal of Human Genetics, 32, 12, pp. 1526-1541

Témata: Neoplastic Syndromes, Hereditary, Brain Neoplasms, Genetics, Quality of Life, Humans, Genetics(clinical), Genetic Counseling, Brain Neoplasms/genetics [MeSH], Colorectal Neoplasms/diagnosis [MeSH], Humans [MeSH], Review Article, 692/700/459/1748, Neoplastic Syndromes, Hereditary/genetics [MeSH], 631/67/2332, Neoplastic Syndromes, Hereditary/diagnosis [MeSH], Genetic Testing/standards [MeSH], Neoplastic Syndromes, Hereditary/therapy [MeSH], Quality of Life [MeSH], review-article, Brain Neoplasms/diagnosis [MeSH], Colorectal Neoplasms/genetics [MeSH], Genetic Counseling/standards [MeSH], Genetic Testing/methods [MeSH], Brain Neoplasms/therapy [MeSH], Genetic Testing, Gastroenterology - Radboud University Medical Center, Colorectal Neoplasms

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39420201
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/315171
https://dspace.library.uu.nl/handle/1874/458673
https://repository.ubn.ru.nl//bitstream/handle/2066/315171/315171.pdf
https://hdl.handle.net/2066/315171
https://repository.publisso.de/resource/frl:6499539

Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing

Autoři: Rowlands, CF Allen, S Balmaña, J a další

Přispěvatelé: Rowlands, CF Allen, S Balmaña, J a další

Zdroj: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Annals of Oncology, 35, 10, pp. 892-901
Allen, S, Balmaña, J, Domchek, S M, Evans, D G, Hoogerbrugge, N, Nathanson, K L, Tischkowitz, M, Foulkes, W D & Turnbull, C 2024, 'Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 35, no. 10, pp. 892-901. https://doi.org/10.1016/j.annonc.2024.07.244

Témata: Other subheadings::Other subheadings::Other subheadings::/genetics, Ubiquitin-Protein Ligases, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms/genetics, Checkpoint Kinase 2/genetics, breast cancer, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, Ataxia Telangiectasia Mutated Proteins/genetics, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases/genetics, Genetic Testing, Germ-Line Mutation, Genetic Association Studies, BRCA2 Protein, BRCA1 Protein, Tumor Suppressor Proteins, mainstream genetic testing, Cromosomes humans - Anomalies - Diagnòstic, Fanconi Anemia Complementation Group N Protein/genetics, BRCA2 Protein/genetics, 3. Good health, DNA-Binding Proteins, Meta-analysis, Checkpoint Kinase 2, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, Case-Control Studies, multi-gene panel testing, BRCA1 Protein/genetics, Mama - Càncer - Aspectes genètics, Human Genetics - Radboud University Medical Center, Female, Fanconi Anemia Complementation Group N Protein, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, case-control, DNA-Binding Proteins/genetics, Genetic Testing/methods, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms

Popis souboru: application/pdf; Print-Electronic

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38986768
https://hdl.handle.net/11351/11965
https://research.manchester.ac.uk/en/publications/590e571d-7ad9-4fb3-b723-57aaa7277a35
https://doi.org/10.1016/j.annonc.2024.07.244
https://repository.ubn.ru.nl/handle/2066/310405
https://repository.ubn.ru.nl//bitstream/handle/2066/310405/310405.pdf
https://research.manchester.ac.uk/en/publications/590e571d-7ad9-4fb3-b723-57aaa7277a35
http://www.scopus.com/inward/record.url?scp=85201586788&partnerID=8YFLogxK
https://doi.org/10.1016/j.annonc.2024.07.244

Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.

Autoři: Bartoszek, Paulina Boemer, François Hovhannesyan, Kristine a další

Zdroj: International Ophthalmology Clinics, 65 (4), 47 - 50 (2025-10-01)

Témata: Retinoblastoma, genomic newborn screening, population health, precision medicine, Retinoblastoma Binding Proteins, RB1 protein, human, Ubiquitin-Protein Ligases, Humans, Infant, Newborn, Belgium/epidemiology, Germ-Line Mutation, Ubiquitin-Protein Ligases/genetics, Retinoblastoma/genetics, Retinoblastoma/diagnosis, Retinoblastoma/epidemiology, Neonatal Screening/methods, Retinal Neoplasms/genetics, Retinal Neoplasms/diagnosis, Retinal Neoplasms/epidemiology, Genetic Testing/methods, Retinoblastoma Binding Proteins/genetics, Human health sciences, Ophthalmology, Sciences de la santé humaine, Ophtalmologie

Relation: https://journals.lww.com/10.1097/IIO.0000000000000593; urn:issn:0020-8167; urn:issn:1536-9617

Přístupová URL adresa: https://orbi.uliege.be/handle/2268/337198

Double versus single blastocyst biopsy and vitrification in preimplantation genetic testing (PGT) cycles: protocol for a systematic review and meta-analysis of clinical and neonatal outcomes

Autoři: Alessandra A. Vireque Vasileios Stolakis Thalita S. Berteli a další

Zdroj: Systematic Reviews, Vol 14, Iss 1, Pp 1-7 (2025)

Témata: Genetic testing/methods, PGT, Biopsy/adverse effects, Trophectoderm biopsy, Re-biopsy, Rewarming/adverse effects, Medicine

Popis souboru: electronic resource

Relation: https://doaj.org/toc/2046-4053

Přístupová URL adresa: https://doaj.org/article/28e437206f7546f99bc804b2025ae6a6

Canadian Cardiovascular Society Clinical Practice Update on Contemporary Management of the Patient With Hypertrophic Cardiomyopathy

Autoři: Andrew M. Crean Arnon Adler Laura Arbour a další

Zdroj: Crean, A M, Adler, A, Arbour, L, Chan, J, Christian, S, Cooper, R M, Garceau, P, Giraldeau, G, Heydari, B, Laksman, Z, Mital, S, Ong, K, Overgaard, C, Ruel, M, Seifer, C M, Ward, M R & Tadros, R 2024, ' Canadian Cardiovascular Society Clinical Practice Update on Contemporary Management of the Patient With Hypertrophic Cardiomyopathy ', The Canadian journal of cardiology, vol. 40, no. 9, pp. 1503-1523 . https://doi.org/10.1016/j.cjca.2024.06.007

Témata: Death, Sudden, Cardiac/prevention & control, Canada, Death, Sudden, Cardiac, Cardiology/methods, Societies, Medical/standards, Cardiology, Humans, Disease Management, Cardiomyopathy, Hypertrophic/diagnosis, Genetic Testing, Cardiomyopathy, Hypertrophic, Genetic Testing/methods, Societies, Medical

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38880398
https://research.manchester.ac.uk/en/publications/58dd0ac2-381e-4f40-aa55-bb1d6eb98e41
https://doi.org/10.1016/j.cjca.2024.06.007

British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for genetic testing in epithelial ovarian cancer in the United Kingdom

Autoři: Elaine YL Leung Shibani Nicum Jo Morrison a další

Přispěvatelé: Elaine YL Leung Shibani Nicum Jo Morrison a další

Zdroj: Leung, E Y, Nicum, S, Morrison, J, Brenton, J D, Funingana, I-G, Morgan, R D, Ghaem-Maghami, S, Miles, T, Manchanda, R, Bowen, R, Andreou, A, Loughborough, W, Freeman, S, Gajjar, K, Coleridge, S, Jimenez-Linan, M, Balega, J, Frost, J, Keightley, A, Wallis, Y, Sundar, S & Ganesan, R 2024, 'British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for genetic testing in epithelial ovarian cancer in the United Kingdom', International journal of gynecological cancer : official journal of the International Gynecological Cancer Society, vol. 34, no. 9, pp. 1334-1343. https://doi.org/10.1136/ijgc-2024-005756

Témata: Consensus, Carcinoma, Ovarian Epithelial, Ovarian Neoplasms/genetics, Neoplasms, Medical, Ovarian Neoplasms/genetics/diagnosis, Humans, Genetic Testing, Ovarian Epithelial/genetics/diagnosis, Homologous recombination, Societies, Medical, BRCA2 Protein, Ovarian Neoplasms, BRCA1 Protein, Carcinoma, Ovarian Epithelial/genetics, United Kingdom, Ovarian Cancer, Carcinoma, Ovarian Epithelial/genetics, Female, Societies, Genetic Testing/methods/standards, Genetic Testing/methods

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39222974
https://research.manchester.ac.uk/en/publications/412293ed-687e-499f-864d-fdd1241da745
https://doi.org/10.1136/ijgc-2024-005756

BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing

Autoři: Banu Arun Fergus J. Couch Jean Abraham a další

Přispěvatelé: Banu Arun Fergus J. Couch Jean Abraham a další

Zdroj: Br J Cancer

Témata: BRCA2 Protein, 0301 basic medicine, 631/67/1347, BRCA2 Protein/genetics [MeSH], Female [MeSH], BRCA1 Protein/genetics [MeSH], Humans [MeSH], Breast Neoplasms/genetics [MeSH], Genes, BRCA1 [MeSH], Genes, BRCA2 [MeSH], Breast Neoplasms/drug therapy [MeSH], Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use [MeSH], Review Article, 692/4028/67/1347, Germ-Line Mutation [MeSH], review-article, Genetic Testing/methods [MeSH], BRCA1 Protein, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Poly(ADP-ribose) Polymerase Inhibitors, 03 medical and health sciences, 0302 clinical medicine, Humans, Female, Genetic Testing, Germ-Line Mutation

Popis souboru: application/pdf; text/xml

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39215191
https://repository.publisso.de/resource/frl:6503287
https://www.repository.cam.ac.uk/handle/1810/375565
https://doi.org/10.1038/s41416-024-02827-z

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

Autoři: Westenberger, Ana Skrahina, Volha Usnich, Tatiana a další

Přispěvatelé: Westenberger, Ana Skrahina, Volha Usnich, Tatiana a další

Zdroj: Brain
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
Brain, vol 147, iss 8

Témata: Male, Genetic testing, Parkinson's disease, Genetic code, Gba1, GBA1, Protein Kinases/genetics, Cohort Studies, Malaltia de Parkinson, Otros calificadores::Otros calificadores::Otros calificadores::/genética, alpha-Synuclein/genetics, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics, 10. No inequality, 11 Medical and Health Sciences, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Codi genètic, or still are employees of CENTOGENE GmbH. A.W. provides consultancy services, genetic factor, name=Clinical Neurology, LRRK2, Parkinson Disease, Cromosomes humans - Anomalies - Diagnòstic, Middle Aged, 16. Peace & justice, 17 Psychology and Cognitive Sciences, 3. Good health, around research projects for CENTOGENE GmbH. C.K. and N.B. are medical advisors, 52 Psychology, Glucosylceramidase/genetics, alpha-Synuclein, Parkinson, Malaltia de - Aspectes genètics, Glucosylceramidase, Parkinson Disease/genetics, Original Article, Female, Life Sciences & Biomedicine, Adult, Genetic factors, Other subheadings::Other subheadings::Other subheadings::/genetics, Ubiquitin-Protein Ligases, Clinical Neurology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, genetic testing, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, Genetic Testing/methods, Lrrk2, Humans, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases/genetics, Genetic Testing, genetic factors, next-generation sequencing, Aged, Science & Technology, Neurology & Neurosurgery, 42 Health sciences, to CENTOGENE GmbH. The other authors report no competing interests, Neurosciences, 32 Biomedical and clinical sciences, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson, Anomalies cromosòmiques, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Next-generation sequencing, Human medicine, Neurosciences & Neurology, Protein Kinases

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39087914
https://hdl.handle.net/11351/12013
https://hdl.handle.net/2445/215720
https://hdl.handle.net/11588/971686
https://lirias.kuleuven.be/handle/20.500.12942/747583
https://doi.org/10.1093/brain/awae188
https://resolver.sub.uni-goettingen.de/purl?gro-2/145030
https://repository.uantwerpen.be/docstore/d:irua:24749
https://hdl.handle.net/10067/2072200151162165141
https://escholarship.org/content/qt4gx97158/qt4gx97158.pdf
https://escholarship.org/uc/item/4gx97158

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Autoři: Thorpe, Erin Williams, Taylor Shaw, Chad a další

Přispěvatelé: Thorpe, Erin Williams, Taylor Shaw, Chad a další

Zdroj: Am J Hum Genet

Témata: Rare genetic disease, Male, Genetic testing, EXOME, clinical utility, Genetics & genetic processes, Genetic Diseases, Inborn/genetics, Clinical genome testing, RECOMMENDATIONS, Génétique & processus génétiques, clinical genome testing, Diagnostic equity, Child, Genetics (clinical), 11 Medical and Health Sciences, Genetics & Heredity, Life sciences, 3. Good health, Whole-genome sequencin, whole-genome sequencing, Child, Preschool, Genetic Diseases, Inborn/diagnosis, Sciences du vivant, Female, Life Sciences & Biomedicine, Genetic Testing/methods, diagnostic equity, Adult, Adolescent, rare disease, change of management, Article, genetic testing, Rare Diseases/genetics, Rare Diseases, Genetics, Humans, Genetic Testing, rare genetic disease, low- and middle-income, Science & Technology, 42 Health sciences, Whole Genome Sequencing, 31 Biological sciences, Genetic Diseases, Inborn, Infant, Rare Diseases/diagnosis, 32 Biomedical and clinical sciences, 06 Biological Sciences, Clinical utility, Change of management, Low- and middle-income, Rare disease

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38843839
https://lirias.kuleuven.be/handle/20.500.12942/746923
https://doi.org/10.1016/j.ajhg.2024.05.006
https://hdl.handle.net/2268/333772
https://doi.org/10.1016/j.ajhg.2024.05.006

Genetik i føtalmedicin

Autoři: Thomsen, Simon Horsholt Hjortshøj, Tina Duelund Barbosa, Malou a další

Zdroj: Thomsen, S H, Hjortshøj, T D, Barbosa, M, Laursen, L, Larsen, M, Hvidbjerg, M S, Tørring, P, Sperling, L, Lund, I C B, Andreasen, L, Ernst, A, Sunde, L, Balslev-Harder, M, Petersen, O B, Lou, S, Becher, N & Vogel, I 2025, 'Genetik i føtalmedicin', Ugeskrift for Læger, bind 187, nr. 18. https://doi.org/10.61409/V12240853

Témata: Whole Genome Sequencing, Pregnancy, Prenatal Diagnosis/methods, Denmark, Fetal Diseases/genetics, Humans, Female, Genetic Counseling, Genetic Testing/methods

Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns

Autoři: Pessano, Sara Boldor, Maria Faravelli, Francesca a další

Zdroj: Cochrane Database Syst Rev

Témata: High-Throughput Nucleotide Sequencing/ethics, Neonatal Screening, Genetic Diseases, Infant, Newborn, Genetic Diseases, Inborn, Inborn/diagnosis, Infant, Humans, High-Throughput Nucleotide Sequencing, Genetic Testing, Newborn, Genetic Testing/methods, Neonatal Screening/methods

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40192933
https://portal.findresearcher.sdu.dk/da/publications/9ee5ce81-028b-4246-ab7b-4e7f9add50f6
https://doi.org/10.1002/14651858.CD016118

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases

Autoři: Harvy Velasco Aida M. Bertoli‐Avella Carolina Jaramillo Jaramillo a další

Zdroj: Eur J Hum Genet

Témata: Adult, Male, 0301 basic medicine, Adolescent, Immunology, Colombia, Gene, Adolescent [MeSH], Female [MeSH], Adult [MeSH], 692/308/2056, Humans [MeSH], Whole Genome Sequencing/standards [MeSH], Middle Aged [MeSH], Colombia [MeSH], Article, Genetic Testing/standards [MeSH], Infant [MeSH], Male [MeSH], 692/308/575, Rare Diseases/genetics [MeSH], Genetic Testing/methods [MeSH], Rare Diseases/diagnosis [MeSH], Child [MeSH], article, Child, Preschool [MeSH], Computational biology, 03 medical and health sciences, Rare Diseases, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Pathology, Humans, Genetic Testing, DNA sequencing, Child, Biology, Immunology and Microbiology, 0303 health sciences, Genome, Whole Genome Sequencing, Genetic Basis of Primary Immunodeficiency Disorders, FOS: Clinical medicine, Cohort, 1. No poverty, Infant, Life Sciences, Middle Aged, Standards and Guidelines for Genetic Variant Interpretation, Genomic Rearrangements and Copy Number Variations, 3. Good health, Child, Preschool, FOS: Biological sciences, Whole genome sequencing, Medicine, Female

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38909121
https://repository.publisso.de/resource/frl:6519929

Comparison of the ABC and ACMG systems for variant classification

Autoři: Gunnar Houge Eirik Bratland Ingvild Aukrust a další

Přispěvatelé: Gunnar Houge Eirik Bratland Ingvild Aukrust a další

Zdroj: Eur J Hum Genet
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
European Journal of Human Genetics
European Journal of Human Genetics, 32, 7, pp. 858-863
European journal of human genetics., London : Springer Nature, 2024, vol. 32, iss. 7, p. 858-863.
Houge, G, Bratland, E, Aukrust, I, Tveten, K, Žukauskaitė, G, Sansovic, I, Brea-Fernández, A J, Mayer, K, Paakkola, T, McKenna, C, Wright, W, Markovic, M K, Lildballe, D L, Konecny, M, Smol, T, Alhopuro, P, Gouttenoire, E A, Obeid, K, Todorova, A, Jankovic, M, Lubieniecka, J M, Stojiljkovic, M, Buisine, M P, Haukanes, B I, Lorans, M, Roomere, H, Petit, F M, Haanpää, M K, Beneteau, C, Pérez, B, Plaseska-Karanfilska, D, Rath, M, Fuhrmann, N, Ferreira, B I, Stephanou, C, Sjursen, W, Maver, A, Rouzier, C, Chirita-Emandi, A, Gonçalves, J, Kuek, W C D, Broly, M, Haer-Wigman, L, Thong, M K, Tae, S K, Hyblova, M, den Dunnen, J T & Laner, A 2024, 'Comparison of the ABC and ACMG systems for variant classification', European Journal of Human Genetics, vol. 32, no. 7, pp. 858-863. https://doi.org/10.1038/s41431-024-01617-8

Témata: Standards, Genetic testing, checkpoint kinase 2, retinal specific ATP binding cassette transporter, Medical genetics, Genetic predisposition to disease, Genetic Variation, Genomics, American college, Human Genetics - Radboud University Medical Center - DCMN, Biología y Biomedicina / Biología, ABC variant classification system, Article, 3. Good health, Association, [SDV] Life Sciences [q-bio], Genetic Testing/standards [MeSH], Humans [MeSH], 631/208/2489/1512, 631/208/727/2000, 692/420/2489/1512, Genetic Testing/methods [MeSH], Genetic Variation [MeSH], article, Biomedicine, Genetics, developmental biology, physiology, ACMG, genetic variation, Humans, Loint consensus recommendation, Genetic Testing, humans

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38778080
http://hdl.handle.net/10486/717561
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/308410
https://imagine.imgge.bg.ac.rs/handle/123456789/2636
https://imagine.imgge.bg.ac.rs/bitstream/id/846263/s41431-024-01617-8.pdf
https://www.nature.com/articles/s41431-024-01617-8
https://hdl.handle.net/1887/4180376
https://repository.ubn.ru.nl//bitstream/handle/2066/308410/308410.pdf
https://hdl.handle.net/2066/308410
https://hal.univ-lille.fr/hal-04646098v1/document
https://doi.org/10.1038/s41431-024-01617-8
https://hal.univ-lille.fr/hal-04646098v1
https://hdl.handle.net/10400.1/25859
http://hdl.handle.net/10138/579021
https://repository.publisso.de/resource/frl:6522020
https://repository.vu.lt/VU:ELABAPDB206503346&prefLang=en_US

Comprehensive genetic analysis by targeted sequencing identifies risk factors and predicts patient outcome in Mantle Cell Lymphoma: results from the EU-MCL network trials: results from the EU-MCL network trials

Autoři: Khouja, Mouhamad Jiang, Linmiao Pál, Karol a další

Zdroj: Leukemia
Khouja, M, Jiang, L, Pal, K, Stewart, P J, Regmi, B, Schwarz, M, Klapper, W, Alig, S K, Darzentas, N, Kluin-Nelemans, H C, Hermine, O, Dreyling, M, Gonzalez de Castro, D, Hoster, E, Pott, C & On behalf of the European Mantle Cell Lymphoma Network 2024, 'Comprehensive genetic analysis by targeted sequencing identifies risk factors and predicts patient outcome in Mantle Cell Lymphoma: results from the EU-MCL network trials', Leukemia, vol. 38, no. 12, pp. 2675-2684. https://doi.org/10.1038/s41375-024-02375-8
Leukemia : normal and malignant hemopoiesis 38(12), 2675-2684 (2024). doi:10.1038/s41375-024-02375-8

Témata: Male, Adult, DNA Copy Number Variations, name=Oncology, name=Hematology, name=Cancer Research, genetic analysis, Lymphoma, Mantle-Cell, Article, Risk Factors, Biomarkers, Tumor, Humans, name=SDG 3 - Good Health and Well-being, Genetic Testing, targeted sequencing, Aged, Aged, 80 and over, Mantle Cell Lymphoma, genetic aberrations, Female [MeSH], High-Throughput Nucleotide Sequencing/methods [MeSH], Mutation [MeSH], Aged, 80 and over [MeSH], Aged [MeSH], Adult [MeSH], 692/308/2056, Humans [MeSH], 631/208/68, Lymphoma, Mantle-Cell/genetics [MeSH], 45/47, Lymphoma, Mantle-Cell/mortality [MeSH], Middle Aged [MeSH], Risk Factors [MeSH], DNA Copy Number Variations [MeSH], 631/67/69, Male [MeSH], Biomarkers, Tumor/genetics [MeSH], Prognosis [MeSH], 45/23, Genetic Testing/methods [MeSH], article, 631/67/1990/291/1621/1915, High-Throughput Nucleotide Sequencing, Middle Aged, Prognosis, Mutation, Female

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39284897
https://research.rug.nl/en/publications/25540b5b-0ee2-4581-ab7f-298011e78eac
https://hdl.handle.net/11370/25540b5b-0ee2-4581-ab7f-298011e78eac
https://doi.org/10.1038/s41375-024-02375-8
https://pure.qub.ac.uk/en/publications/0aac0bec-9141-4e65-aefe-e0bac05da8fe
https://repository.publisso.de/resource/frl:6507252
https://epub.ub.uni-muenchen.de/122892/
https://publications.rwth-aachen.de/record/1007363

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial: a randomised, non-inferiority trial

Autoři: B. Torr C. Jones G. Kavanaugh a další

Přispěvatelé: B. Torr C. Jones G. Kavanaugh a další

Zdroj: Br J Cancer
Torr, B, Kavanaugh, G, Hamill, M, Allen, S, Choi, S, Garrett, A, Valganon-Petrizan, M, MacMahon, S, Yuan, L, Way, R, Harder, H, Gold, R, Taylor, A, Gabe, R, Lucassen, A, Manchanda, R, Fallowfield, L, Jenkins, V, Gandhi, A, Evans, D G, George, A, Hubank, M, Kemp, Z, Bremner, S & Turnbull, C 2024, 'BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting : a randomised, non-inferiority trial', British Journal of Cancer, vol. 131, no. 9, pp. 1506-1515. https://doi.org/10.1038/s41416-024-02832-2

Témata: Adult, BRCA2 Protein, BRCA1 Protein, Genetic Counseling/methods, Breast Neoplasms, Genetic Counseling, Breast Neoplasms/genetics, Middle Aged, BRCA2 Protein/genetics, Article, United Kingdom, BRCA1 Protein/genetics, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Genetic Testing/methods, Germ-Line Mutation, Aged

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39349619
https://ora.ox.ac.uk/objects/uuid:8aeb0fcc-b280-490d-9b0d-04677715d15b
https://doi.org/10.1038/s41416-024-02832-2

European survey: citizens' attitudes on personalized medicine, genetic testing and health data sharing – design and delivery: citizens' attitudes on personalized medicine, genetic testing and health data sharing - design and delivery

Autoři: Francesco Andrea Causio Flavia Beccia Loes Lindiwe Kreeftenberg a další

Zdroj: Personalized Medicine

Témata: Male, Adult, Information Dissemination, Information Dissemination/methods, European Union, health data privacy, health data-sharing, healthcare policy, personalized medicine, public engagement, Precision Medicine/methods, Middle Aged, Europe, Cross-Sectional Studies, Surveys and Questionnaires, Public Opinion, Humans, Electronic Health Records, Female, Genetic Testing, Precision Medicine, Genetic Testing/methods, Aged

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38963136