Suchergebnisse - "Genetic Testing statistics & numerical data"

Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000: Progress since 2000

Autoren: Aleksandar M. Kostov Maj-Britt Jensen Bent Ejlertsen et al.

Quelle: Acta Oncol
Acta Oncologica, Vol 64 (2025)
Kostov, A M, Jensen, M-B, Ejlertsen, B, Thomassen, M, Rossing, C M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A-V 2025, 'Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000', Acta Oncologica, vol. 64, pp. 147-155. https://doi.org/10.2340/1651-226X.2025.42418
Kostov, A M, Jensen, M B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A V 2025, ' Germline BRCA testing in Denmark following invasive breast cancer : Progress since 2000 ', Acta Oncologica, vol. 64, pp. 147-155 . https://doi.org/10.2340/1651-226X.2025.42418
Kostov, A M, Jensen, M B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A V 2025, 'Germline BRCA testing in Denmark following invasive breast cancer : Progress since 2000', Acta Oncologica, vol. 64, pp. 147-155. https://doi.org/10.2340/1651-226X.2025.42418

Schlagwörter: Adult, Genetic testing, Genetic Testing/statistics & numerical data, Denmark, Breast Neoplasms, Breast Neoplasms/genetics, Cohort Studies, Danish Breast Cancer Group, Original Report, Humans, Genetic Predisposition to Disease, Genetic Testing, pathogenic variants, RC254-282, Germ-Line Mutation, Aged, BRCA2 Protein, pathogenic germline variants, BRCA1 Protein, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, hereditary breast cancer, Middle Aged, BRCA2 Protein/genetics, Denmark/epidemiology, BRCA1 Protein/genetics, Female

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39876688
https://doaj.org/article/f43c77f1b97f4c95b05295e2a1592287
https://vbn.aau.dk/da/publications/1757f2c4-56f0-46e1-b62f-b46b76b4f55c
https://vbn.aau.dk/ws/files/768168423/Kostov_et_al._2025_._Germline_BRCA_testing_in_Denmark_following_invasive_breast_cancer_-_Progress_since_2000.pdf
https://doi.org/10.2340/1651-226X.2025.42418
http://www.scopus.com/inward/record.url?scp=85217274327&partnerID=8YFLogxK
https://curis.ku.dk/ws/files/429889023/AO42418.pdf
https://portal.findresearcher.sdu.dk/da/publications/b8e7a120-5a06-4151-9187-8527f0f04dce
https://doi.org/10.2340/1651-226X.2025.42418
https://pure.au.dk/portal/en/publications/9c3def68-eea6-4ced-b66f-f46df5725f9c
https://doi.org/10.2340/1651-226X.2025.42418
http://www.scopus.com/inward/record.url?scp=85217274327&partnerID=8YFLogxK

Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study

Autoren: Cathrine Vedel Richard Farlie Laura Vase et al.

Quelle: Prenat Diagn
Vedel, C, Farlie, R, Vase, L, Nielsen, L H, Jensen, A N, Barken, S S, Hjort-Pedersen, K & Petersen, O B 2025, 'Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study', Prenatal Diagnosis, vol. 45, no. 3, pp. 348-351. https://doi.org/10.1002/pd.6749
Vedel, C, Farlie, R, Vase, L, Nielsen, L H, Jensen, A N, Barken, S S, Hjort-Pedersen, K & Petersen, O B 2025, ' Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein — A Nationwide Study ', Prenatal Diagnosis, vol. 45, no. 3, pp. 348-351 . https://doi.org/10.1002/pd.6749
Vedel, C, Farlie, R, Vase, L, Nielsen, L H, Jensen, A N, Barken, S S, Hjort-Pedersen, K & Petersen, O B 2025, 'Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein : A Nationwide Study', Prenatal Diagnosis, vol. 45, no. 3, pp. 348-351. https://doi.org/10.1002/pd.6749

Schlagwörter: Chromosome Aberrations, Adult, Umbilical Veins, Chromosome Aberrations/statistics & numerical data, Genetic Testing/statistics & numerical data, Denmark, Denmark/epidemiology, Umbilical Veins/diagnostic imaging, Pregnancy, Humans, Original Article, Female, Genetic Testing, Retrospective Studies

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39871018
http://www.scopus.com/inward/record.url?scp=85216193090&partnerID=8YFLogxK
https://vbn.aau.dk/da/publications/360ff759-dac1-4a67-a156-44a435f3c265
https://doi.org/10.1002/pd.6749
https://vbn.aau.dk/ws/files/770416470/Vedel_et_al._2025_._Chromosomal_Aberrations_in_Fetuses_With_Isolated_Persistent_Right_Umbilical_Vein_A_Nationwide_Study.pdf
https://curis.ku.dk/ws/files/449417051/Prenatal_Diagnosis_-_2025_-_Vedel_-_Chromosomal_Aberrations_in_Fetuses_With_Isolated_Persistent_Right_Umbilical_Vein_A.pdf
http://www.scopus.com/inward/record.url?scp=85216193090&partnerID=8YFLogxK
https://doi.org/10.1002/pd.6749
https://pure.au.dk/portal/en/publications/fc3ea900-bfb9-469a-a18a-9b3499d07557

Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data: lessons learned from real-world clinical data

Autoren: Lieke Lanjouw Claire J. H. Kramer Arja ter Elst et al.

Quelle: Fam Cancer

Schlagwörter: Ovarian Neoplasms, BRCA2 Protein, Adult, Genetic Testing/statistics & numerical data, BRCA1 Protein, Carcinoma, Carcinoma, Ovarian Epithelial, Middle Aged, Poly(ADP-ribose) Polymerase Inhibitors, Ovarian Epithelial/genetics, BRCA2 Protein/genetics, Ovarian Neoplasms/genetics, BRCA1 Protein/genetics, Humans, Original Article, Female, Genetic Predisposition to Disease, Genetic Testing, Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use, Germ-Line Mutation, Netherlands, Aged

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40323485
https://research.rug.nl/en/publications/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://hdl.handle.net/11370/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://doi.org/10.1007/s10689-025-00467-7

Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.

Autoren: Calzetti, Giacomo Schwarzwälder, Kerstin Ottonelli, Giorgia et al.

Weitere Verfasser: Calzetti, Giacomo Schwarzwälder, Kerstin Ottonelli, Giorgia et al.

Schlagwörter: Europe, IOGP OFT, Genetic Counseling, Genetic Testing* / standards, Genetic Testing* / statistics & numerical data, Humans, Retinal Diseases* / diagnosis, Retinal Diseases* / genetics

Dateibeschreibung: application/pdf

Verfügbarkeit: http://hdl.handle.net/10400.17/5190

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.

Autoren: Chawner, SJRA Mihaljevic, M. Morrison, S. et al.

Weitere Verfasser: Chawner, SJRA Mihaljevic, M. Morrison, S. et al.

Schlagwörter: DNA Copy Number Variations, Databases, Genetic, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Europe, Gene Frequency, Genetic Testing/methods, Genetic Testing/statistics & numerical data, Genome-Wide Association Study/methods, Genome-Wide Association Study/statistics & numerical data, Humans, Information Dissemination, Phenotype, Copy number variants, European, Medical genetics, Neurodevelopmental disorders, Psychiatric genetics, Research collaboration

Dateibeschreibung: application/pdf

Relation: European Journal of Medical Genetics; https://iris.unil.ch/handle/iris/228542; serval:BIB_CAFE2CE91042; 000601163300013

Verfügbarkeit: https://iris.unil.ch/handle/iris/228542
https://doi.org/10.1016/j.ejmg.2020.104093

Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.

Autoren: Boyd, P.A. Devigan, C. Khoshnood, B. et al.

Weitere Verfasser: Boyd, P.A. Devigan, C. Khoshnood, B. et al.

Schlagwörter: Abortion, Induced/statistics & numerical data, Down Syndrome/diagnosis, Down Syndrome/drug therapy, Europe/epidemiology, Female, Genetic Testing/statistics & numerical data, Gestational Age, Health Policy, Humans, Neural Tube Defects/diagnosis, Pregnancy, Pregnancy Trimesters, Prenatal Diagnosis/statistics & numerical data, Questionnaires, Ultrasonography, Prenatal/statistics & numerical data

Dateibeschreibung: application/pdf

Relation: BJOG: An International Journal of Obstetrics & Gynaecology; https://iris.unil.ch/handle/iris/205647; serval:BIB_EA184AFB1061; 000254856300003

Verfügbarkeit: https://iris.unil.ch/handle/iris/205647
https://doi.org/10.1111/j.1471-0528.2008.01700.x

Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal

Autoren: Milena Paneque Joana Félix Álvaro Mendes et al.

Weitere Verfasser: Milena Paneque Joana Félix Álvaro Mendes et al.

Quelle: Acta Médica Portuguesa, Vol 32, Iss 4, Pp 295-304 (2019)

Schlagwörter: Adult, 0301 basic medicine, Medicine (General), Genetic testing, Time Factors, Patient Dropouts, Adolescent, Neurologic Examination / statistics & numerical data, Machado-Joseph Disease / diagnosis, Amyloid Neuropathies, Familial / genetics, Genetic Counseling, Disclosure, Patient Dropouts / statistics & numerical data, Young Adult, 03 medical and health sciences, R5-920, 0302 clinical medicine, Humans, Heredodegenerative Disorders, Nervous System / psychology, Genetic Testing, Age of Onset, Heredodegenerative Disorders, Nervous System / diagnosis, Quality of Health Care, Aged, Retrospective Studies, Neurologic Examination / psychology, Aged, 80 and over, Neurologic Examination, Amyloid Neuropathies, Familial, Portugal, Genetic Carrier Screening, Neurodegenerative diseases, Neurodegenerative Diseases, Machado-Joseph Disease, Machado-Joseph Disease / genetics, Middle Aged, Heredodegenerative Disorders, Nervous System / genetics, Amyloid Neuropathies, Familial / diagnosis, Socioeconomic Factors, Asymptomatic Diseases, Genetic Counseling / statistics & numerical data, Quality of health care, Genetic Testing / statistics & numerical data, Medicine, Heredodegenerative Disorders, Nervous System, Genetic counseling

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/download/10526/5661
https://pubmed.ncbi.nlm.nih.gov/31067424
https://doaj.org/article/27cabafc131b40fa93df83c667ad951b
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10526
https://www.ncbi.nlm.nih.gov/pubmed/31067424
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/download/10526/5661
https://hdl.handle.net/10216/136317

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

Autoren: Byrjalsen, Anna Hansen, Thomas V.O. Stoltze, Ulrik K. et al.

Quelle: Byrjalsen, A, Hansen, T V O, Stoltze, U K, Mehrjouy, M M, Barnkob, N M, Hjalgrim, L L, Mathiasen, R, Lautrup, C K, Gregersen, P A, Hasle, H, Wehner, P S, Tuckuviene, R, Sackett, P W, Laspiur, A O, Rossing, M, Marvig, R L, Tommerup, N, Olsen, T E, Scheie, D, Gupta, R, Gerdes, A M, Schmiegelow, K & Wadt, K 2020, 'Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes', PLOS Genetics, vol. 16, no. 12, e1009231. https://doi.org/10.1371/JOURNAL.PGEN.1009231

Schlagwörter: Adolescent, Child, Preschool, Female, Genetic Testing/statistics & numerical data, Germ-Line Mutation, Humans, Incidence, Infant, Male, Mutation Rate, Neoplastic Syndromes, Hereditary/epidemiology, Whole Genome Sequencing/statistics & numerical data

Dateibeschreibung: application/pdf

Verfügbarkeit: https://portal.findresearcher.sdu.dk/da/publications/a8f617ff-c79f-45d4-a034-9cb0edb33eee
https://doi.org/10.1371/JOURNAL.PGEN.1009231
https://findresearcher.sdu.dk/ws/files/178123240/journal.pgen.1009231.pdf

Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles

Autoren: Łukaszuk, K. Pukszta, S. Wells, D. et al.

Quelle: Fertility and Sterility. 103:1031-1036

Schlagwörter: semiconductor-based sequencer, Adult, 0301 basic medicine, Blastomeres, Pregnancy Rate, Blastomeres - metabolism, Case-control studies, Embryo transfer - statistics & numerical data, Preimplantation diagnosis - methods, Fertilization in Vitro, routine - methods, Pregnancy rate, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetic testing - statistics & numerical data, aneuploidy screening, Humans, Genetic Testing, preimplantation genetic diagnosis, Preimplantation Diagnosis, routine - statistics & numerical data, Diagnostic Tests, Routine, Blastomeres - cytology, High-Throughput Nucleotide Sequencing, Blastocyst - cytology, Blastocyst - metabolism, Embryo Transfer, 3. Good health, Preimplantation diagnosis - adverse effects, Blastocyst, genotyping, Diagnostic tests, Case-Control Studies, Fertilization in vitro - statistics & numerical data, High-throughput nucleotide sequencing - statistics & numerical data, Preimplantation diagnosis - statistics & numerical data, next-generation sequencing, Female, Genetic testing - methods

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/25624194
http://www.sciencedirect.com/science/article/pii/S0015028214025540
https://pubmed.ncbi.nlm.nih.gov/25624194/
http://www.obs-gyn.ox.ac.uk/publications/506655
https://www.ncbi.nlm.nih.gov/pubmed/25624194
https://www.sciencedirect.com/science/article/pii/S0015028214025540
https://www.wrh.ox.ac.uk/publications/506655

Genetic testing in amyotrophic lateral sclerosis / Genetisk utredning ved amyotrofisk lateral sklerose

Autoren: Nakken, Ola Sörum, Lillian Holmöy, Trygve

Quelle: Tidsskrift for Den Norske Laegeforening. 138(13):1251

Landelijke variatie in moleculaire diagnostiek bij gemetastaseerde longkanker

Autoren: Kuijpers, Chantal C.H.J. Van Den Heuvel, Michel M. Overbeek, Lucy I.H. et al.

Weitere Verfasser: Kuijpers, Chantal C.H.J. Van Den Heuvel, Michel M. Overbeek, Lucy I.H. et al.

Schlagwörter: Gene Rearrangement, Male, Medicine(all), Lung Neoplasms/genetics, Genetic Testing/statistics & numerical data, Molecular Diagnostic Techniques/statistics & numerical data, ErbB Receptors/genetics, Research Support, Non-U.S. Gov't, General Medicine, Anaplastic Lymphoma Kinase/genetics, Middle Aged, Health Services Misuse, Proto-Oncogene Proteins p21(ras)/genetics, Carcinoma, Non-Small-Cell Lung/genetics, Mutation, Journal Article, Humans, Female, Aged, Netherlands, Retrospective Studies

Dateibeschreibung: image/pdf; application/pdf

Zugangs-URL: https://dspace.library.uu.nl/handle/1874/391383
https://dspace.library.uu.nl/handle/1874/374250

Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe: A population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Autoren: Barisic Ingeborg Boban Ljubica Loane Maria et al.

Quelle: Barisic, I, Boban, L, Loane, M, Garne, E, Wellesley, D, Calzolari, E, Dolk, H, Addor, M-C, Bergman, J E, Braz, P, Draper, E S, Haeusler, M, Khoshnood, B, Klungsoyr, K, Pierini, A, Queisser-Luft, A, Rankin, J, Rissmann, A & Verellen-Dumoulin, C 2015, ' Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe ', European Journal of Human Genetics, vol. 23, pp. 746–752 . https://doi.org/10.1038/ejhg.2014.174

Schlagwörter: Prenatal Diagnosis/statistics & numerical data, ANOMALIES, Male, 0301 basic medicine, Genetic Testing/statistics & numerical data, PHENOTYPES, SHH, Polycystic Kidney Diseases/diagnosis, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, Prevalence, CRITERIA, Meckel-Gruber syndrome, Epidemiology, Congenital anomalies, Europe, Humans, Genetic Testing, Encephalocele, SPECTRUM, Polycystic Kidney Diseases, 0303 health sciences, MUTATIONS, Ciliary Motility Disorders/diagnosis, 3. Good health, 13. Climate action, NEURAL-TUBE DEFECTS, Female, Encephalocele/diagnosis, Retinitis Pigmentosa, Ciliary Motility Disorders

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.nature.com/articles/ejhg2014174.pdf
https://pubmed.ncbi.nlm.nih.gov/25182137
https://www.bib.irb.hr/735124
https://www.nature.com/articles/ejhg2014174.pdf
http://europepmc.org/articles/PMC4795048
https://eprints.ncl.ac.uk/208894
https://pure.ulster.ac.uk/en/publications/meckel-gruber-syndrome-a-population-based-study-on-prevalence-pre-3
https://www.bib.irb.hr/735124
https://repositorio.insa.pt/handle/10400.18/3736
https://portal.findresearcher.sdu.dk/da/publications/cd2b9f3e-fb8c-45e4-858f-2427c1fc6422
https://portal.findresearcher.sdu.dk/da/publications/cd2b9f3e-fb8c-45e4-858f-2427c1fc6422
https://doi.org/10.1038/ejhg.2014.174

Restriction of human papillomavirus DNA testing in primary cervical screening to women above age 30: systematic review

Autoren: Rebolj, Matejka Njor, Sisse H Lynge, Elsebeth

Quelle: European Journal of Cancer Prevention. 21:73-81

Schlagwörter: Viral/genetics, Genetic Testing/statistics & numerical data, Papillomavirus Infections, Uterine Cervical Neoplasms, DNA, Papillomavirus Infections/diagnosis, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Uterine Cervical Neoplasms/diagnosis, DNA, Viral, Humans, Mass Screening, Papillomaviridae/genetics, Female, Viral, Genetic Testing, Papillomaviridae

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/21968690

Genetic Structure Adds Power to Detect Schizophrenia Susceptibility at SLIT3 in the Chinese Han Population

Autoren: La, Y Duan, Y Gao, B et al.

Quelle: Genome Research. 14:1345-1349

Schlagwörter: Adult, Male, 0301 basic medicine, Genetic Testing/statistics & numerical data, Schizophrenia/epidemiology/*genetics, Polymorphism, Single Nucleotide, Chromosomes, 03 medical and health sciences, Asian People, Genetics, Genetics, Population/methods/statistics & numerical data, Cluster Analysis, Humans, Computer Simulation, Genetic Predisposition to Disease, Genetic Testing, Polymorphism, Genetic Predisposition to Disease/epidemiology/*genetics, 0303 health sciences, Population/methods/statistics & numerical data, Asian Continental Ancestry Group/*ethnology/*genetics/statistics & numerical data, Genetic Variation, Chromosomes, Human, Pair 5/genetics, Polymorphism, Single Nucleotide/genetics, Computer Simulation/statistics & numerical data, Genetics, Population, Genetic Variation/genetics, Schizophrenia, Chromosomes, Human, Pair 5, Pair 5/genetics, Female, Single Nucleotide/genetics, Human

Zugangs-URL: http://genome.cshlp.org/content/14/7/1345.full.pdf
https://pubmed.ncbi.nlm.nih.gov/15231749
https://core.ac.uk/display/3492201
https://europepmc.org/article/MED/15231749
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC442150
http://hdl.handle.net/10722/208438

Will utilize genetic expertise better / Vil utnytte genetisk ekspertise bedre

Autoren: Thoresen, Sigrid Bratlie Kvale, Hallvard

Quelle: Genialt. 24(3):15

Genetic testing / Gentesting

Autoren: Torheim, Norunn K

Quelle: Genialt. 20(3):11

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association: Some examples of unexpected variant association

Autoren: Rinaldi, Berardo Race, Valerie Corveleyn, Anniek et al.

Weitere Verfasser: Rinaldi, Berardo Race, Valerie Corveleyn, Anniek et al.

Quelle: European Journal of Medical Genetics. 63:103875

Schlagwörter: Prenatal Diagnosis/statistics & numerical data, Male, 0301 basic medicine, 0303 health sciences, Genetic Testing/statistics & numerical data, High-Throughput Nucleotide Sequencing/statistics & numerical data, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Fetus/pathology, Sequence Analysis, DNA, 3. Good health, 03 medical and health sciences, Fetus, Sequence Analysis, DNA/statistics & numerical data, Prenatal Diagnosis, Mutation, Genetic Diseases, Inborn/diagnosis, Humans, Female, Genetic Testing, mutation

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/32058062
https://www.ncbi.nlm.nih.gov/pubmed/32058062/
https://www.sciencedirect.com/science/article/abs/pii/S1769721219304811
https://biblio.vub.ac.be/vubir/(3627d61a-493e-4c81-9b18-7ddb611e194b).html

A new testing strategy to identify rare variants with either risk or protective effect on disease.

Autoren: Ionita-Laza, Iuliana Buxbaum, Joseph D Laird, Nan M et al.

Quelle: PLoS Genetics 7(2), e1001289 (2011). doi:10.1371/journal.pgen.1001289

Schlagwörter: info:eu-repo/classification/ddc/610, Algorithms, Computer Simulation, DEAD-box RNA Helicases: genetics, Data Interpretation, Statistical, Diabetes Mellitus, Type 1: genetics, Genetic Predisposition to Disease, Genetic Testing: statistics & numerical data, Genetic Variation, Genome-Wide Association Study: statistics & numerical data, Haplotypes: genetics, Humans, Interferon-Induced Helicase, IFIH1, Risk Factors, Sequence Analysis, DNA, IFIH1 protein, human, DEAD-box RNA Helicases

Geographisches Schlagwort: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1553-7390; info:eu-repo/semantics/altIdentifier/issn/1553-7404; info:eu-repo/semantics/altIdentifier/pmid/pmid:21304886; https://pub.dzne.de/record/136182

Verfügbarkeit: https://pub.dzne.de/record/136182
https://pub.dzne.de/search?p=id:%22DZNE-2020-02504%22

Landelijke variatie in moleculaire diagnostiek bij gemetastaseerde longkanker ; National variation in molecular diagnostics in metastatic lung cancer

Autoren: Kuijpers, Chantal C.H.J. Van Den Heuvel, Michel M. Overbeek, Lucy I.H. et al.

Weitere Verfasser: Kuijpers, Chantal C.H.J. Van Den Heuvel, Michel M. Overbeek, Lucy I.H. et al.

Schlagwörter: Aged, Anaplastic Lymphoma Kinase/genetics, Carcinoma, Non-Small-Cell Lung/genetics, ErbB Receptors/genetics, Female, Gene Rearrangement, Genetic Testing/statistics & numerical data, Health Services Misuse, Humans, Lung Neoplasms/genetics, Male, Middle Aged, Molecular Diagnostic Techniques/statistics & numerical data, Mutation, Netherlands, Proto-Oncogene Proteins p21(ras)/genetics, Retrospective Studies, General Medicine, Research Support, Non-U.S. Gov't, Journal Article

Dateibeschreibung: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/374250

Verfügbarkeit: https://dspace.library.uu.nl/handle/1874/374250

Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients:lessons learned from real-world clinical data

Autoren: Lanjouw, Lieke Kramer, Claire J H Elst, Arja Ter et al.

Quelle: Lanjouw, L, Kramer, C J H, Elst, A T, de Bock, G H, Gaarenstroom, K N, Yigit, R, Berger, L P V, van Asperen, C J, Commandeur-Jan, S Z, van der Hall, D M X, Jalving, M, Kagie, M J, van der Stoep, N, van Wezel, T, Mourits, M J E, Bosse, T & Bart, J 2025, 'Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients : lessons learned from real-world clinical data', Familial Cancer, vol. 24, no. 2, 43.

Index Begriffe: Humans, Female, Carcinoma, Ovarian Epithelial/genetics, Middle Aged, Ovarian Neoplasms/genetics, Genetic Testing/statistics & numerical data, Netherlands, BRCA2 Protein/genetics, BRCA1 Protein/genetics, Adult, Aged, Germ-Line Mutation, Genetic Predisposition to Disease, Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use, article

URL: https://research.rug.nl/en/publications/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://doi.org/10.1007/s10689-025-00467-7
https://hdl.handle.net/11370/e73b141a-e2d7-4a89-a371-347b40d67bd8
https://pure.rug.nl/ws/files/1302451517/s10689-025-00467-7.pdf
https://www.scopus.com/pages/publications/105004347121
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10689-025-00467-7
info:eu-repo/semantics/altIdentifier/pmid/40323485
info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/11370/e73b141a-e2d7-4a89-a371-347b40d67bd8
info:eu-repo/semantics/altIdentifier/pissn/1389-9600