نتائج البحث - "Encarna Gomez-Garcia"

1

دورية أكاديمية

P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100095- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442300095XTest; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/4293f81e35c44437b2760aac2b4577aeTest

View record in DOAJ

النص الكامل

2

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Cancers
Volume 13
Issue 17
CANCERS
Cancers, 13(17):4430. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers, Vol 13, Iss 4430, p 4430 (2021)

وصف الملف: application/pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::914ec61495e7a93242252fdbd6e7730eTest

3

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

المساهمون: Human Genetics, Human genetics, CCA - Cancer biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Medical Genetics, Clinical Genetics

المصدر: Human mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052Test

مصطلحات موضوعية: 0301 basic medicine, DNA Mutational Analysis, pseudogenes, COLORECTAL-CANCER, Cohort Studies, 0302 clinical medicine, Mutation Carrier, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], PMS2, Missense mutation, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Netherlands, Medicine(all), Genetics, Brain Neoplasms, MLH1, Neoplastic Syndromes, Hereditary/genetics, Lynch syndrome, CMMRD, missense variants, immunohistochemistry, mismatch repair, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), DNA mismatch repair, Microsatellite Instability, Colorectal Neoplasms, EUROPEAN CONSORTIUM CARE, PSEUDOGENE INTERFERENCE, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis/methods, Biology, 03 medical and health sciences, Germline mutation, Neoplastic Syndromes, Hereditary, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, SYNDROME FAMILIES, CFR PARTICIPANTS, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Brain Neoplasms/genetics, Microsatellite instability, Genetic Variation, Mismatch Repair Endonuclease PMS2/genetics, medicine.disease, Colorectal Neoplasms/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis, GENE, digestive system diseases, 030104 developmental biology, PROMOTER HYPERMETHYLATION, 3' DELETIONS, Cancer research, NONPOLYPOSIS COLON-CANCER

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e47d3e18fe6f732f598289c985f991Test
https://doi.org/10.1002/humu.23052Test

4

SNP association study in PMS2-associated Lynch syndrome

المساهمون: CCA - Cancer biology and immunology, Human genetics, Human Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Clinical Genetics

المصدر: Familial Cancer, 17(4), 507-515. Springer Netherlands
Familial Cancer, 17, 507-515
Ten Broeke, S W, Elsayed, F A, Pagan, L, Olderode-Berends, M J W, Garcia, E G, Gille, H J P, van Hest, L P, Letteboer, T G W, van der Kolk, L E, Mensenkamp, A R, van Os, T A, Spruijt, L, Redeker, B J W, Suerink, M, Vos, Y J, Wagner, A, Wijnen, J T, Steyerberg, E W, Tops, C M J, van Wezel, T & Nielsen, M 2018, ' SNP association study in PMS2-associated Lynch syndrome ', Familial Cancer, vol. 17, no. 4, pp. 507-515 . https://doi.org/10.1007/s10689-017-0061-3Test
Familial Cancer, 17(4), 507-515. SPRINGER
Familial Cancer
Familial cancer, 17(4), 507-515. Springer Netherlands
Familial Cancer, 17(4), 507. Springer Netherlands
Familial Cancer, 17(4), 507-515. Springer, Cham
Familial Cancer, 17(4), 507-515
Familial Cancer, 17, 4, pp. 507-515

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Genome-wide association study, Kaplan-Meier Estimate, VARIANTS, Cancer risk, 0302 clinical medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics(clinical), 8Q23.3, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Aged, 80 and over, Hazard ratio, MLH1, Middle Aged, Lynch syndrome, 3. Good health, 030220 oncology & carcinogenesis, Female, Original Article, Colorectal Neoplasms, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Chromosomes, Human, Pair 8, Adult, Heterozygote, 11Q23.1, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, GENES, Concordance, SNP, Single-nucleotide polymorphism, MUTATION CARRIERS, Polymorphism, Single Nucleotide, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, COHORT, Allele, Aged, COLORECTAL-CANCER RISK, PMS2 MUTATIONS, Proportional hazards model, business.industry, Chromosomes, Human, Pair 11, Modifiers, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal cancer, digestive system diseases, BODY-MASS INDEX, PMS2, 030104 developmental biology, Case-Control Studies, business, Genome-Wide Association Study

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7f654b58d61da072c7628164449a54Test
https://research.vumc.nl/en/publications/3333469a-41bd-4a3f-a348-7644d0e64a7bTest

5

Relevance and efficacy of breast cancer screening inBRCA1andBRCA2mutation carriers above 60 years: A national cohort study

المؤلفون: Cora M. Aalfs, Marianne Piek, Janet R. Vos, Hanne Meijers-Heijboer, Christi J. van Asperen, Linetta B. Koppert, Caroline Seynaeve, Matti A. Rookus, Jan C. Oosterwijk, Geertruida H. de Bock, Margreet G. E. M. Ausems, Nicoline Hoogerbrugge, Sepideh Saadatmand, Madeleine M.A. Tilanus-Linthorst, Maartje J. Hooning, Cornelis Verhoef, Encarna Gomez Garcia

المصدر: International Journal of Cancer. 135:2940-2949

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Cancer, medicine.disease, Annual Screening, Breast cancer screening, Breast cancer, Internal medicine, medicine, Mammography, skin and connective tissue diseases, business, Prospective cohort study, Mastectomy, Mass screening

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::340dafde15094051aea947c1a4ff6c8dTest
https://doi.org/10.1002/ijc.28941Test

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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and/or ovarian) cancer susceptibility genes: An international survey by the Enigma Clinical Working Group

المؤلفون: Sarah M. Nielsen, Encarna Gomez Garcia, Diana Eccles, Iris L. Romero, Amanda B. Spurdle, David E. Goldgar, Arcangela De Nicolo, Alvaro N.A. Monteiro, Susan M. Domchek

المصدر: Journal of Clinical Oncology. 36:1539-1539

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b7f514caef427de28c852f4ae3c1dbcTest
https://doi.org/10.1200/jco.2018.36.15_suppl.1539Test

7

In vivo diagnosis and classification of colorectal neoplasia by chromoendoscopy-guided confocal laser endomicroscopy

المؤلفون: Wim Hameeteman, Ann Driessen, Encarna Gomez–Garcia, Adriaan P. de Bruïne, Ad A.M. Masclee, Silvia Sanduleanu

المساهمون: RS: NUTRIM - R2 - Gut-liver homeostasis, Interne Geneeskunde, Pathologie

المصدر: Clinical gastroenterology and hepatology, 8(4), 371-378. Elsevier Science

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Colorectal cancer, Chromoendoscopy, In vivo, Predictive Value of Tests, medicine, Humans, Prospective Studies, Aged, Microscopy, Confocal, Hepatology, business.industry, Gastroenterology, Intestinal Polyps, Histology, Colonoscopy, Middle Aged, medicine.disease, Hyperplastic Polyp, Dysplasia, Histopathology, Female, business, Colorectal Neoplasms, Ex vivo

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::643fbab5773510939dbfd705bb2a3b53Test
https://cris.maastrichtuniversity.nl/en/publications/809573e7-8d34-4f3b-9c20-465e47d008e4Test

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The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters

المؤلفون: Joël, Vos, Christi J, van Asperen, Jan C, Oosterwijk, Fred H, Menko, Margriet J, Collee, Encarna, Gomez Garcia, Aad, Tibben

المصدر: Psycho-oncology. 22(4)

مصطلحات موضوعية: BRCA2 Protein, Ovarian Neoplasms, Health Knowledge, Attitudes, Practice, Health Services Needs and Demand, Psychopathology, BRCA1 Protein, Communication, Breast Neoplasms, Genetic Counseling, Patient Education as Topic, Surveys and Questionnaires, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Self Report, Factor Analysis, Statistical, Stress, Psychological, Netherlands

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2e02ad32edab8cc8b0a03a64ef444363Test
https://pubmed.ncbi.nlm.nih.gov/22740372Test

9

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

المؤلفون: Encarna Gomez Garcia, Anja Wagner, Frans B. L. Hogervorst, Annemarie H. van der Hout, Hanne Meijers-Heijboer, Rolf H. Sijmons, Cora M. Aalfs, Leo P. ten Kate, Senno Verhoef, Fred H. Menko, Laura J. van't Veer, Margreet G. E. M. Ausems, Roelof Pruntel, Matti A. Rookus, Marielle W. G. Ruijs, Nicoline Hoogerbrugge, Irma Kluijt, Christi J. van Asperen

المساهمون: Human genetics, CCA - Oncogenesis, EMGO - Quality of care, Human Genetics, Clinical Genetics, Internal Medicine, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Faculteit der Geneeskunde

المصدر: Journal of Medical Genetics, 47(6), 421-428. BMJ Publishing Group
Journal of medical genetics, 47(6), 421-428. BMJ Publishing Group
Journal of Medical Genetics, 47, 421-8
Ruijs, M W G, Verhoef, S, Rookus, M A, Pruntel, R, van der Hout, A H, Hogervorst, F B L, Kluijt, I, Sijmons, RH, Aalfs, C M, Wagner, A, Ausems, M G E M, Hoogerbrugge, N, van Asperen, C J, Garcia, E B G, Meijers-Heijboer, E J, ten Kate, L P, Menko, F H & van 't Veer, L J 2010, ' TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes ', Journal of Medical Genetics, vol. 47, no. 6, pp. 421-428 . https://doi.org/10.1136/jmg.2009.073429Test
JOURNAL OF MEDICAL GENETICS, 47(6), 421-428. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47, 6, pp. 421-8
Journal of Medical Genetics, 47(6), 421-428

مصطلحات موضوعية: Oncology, Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Germline, Li-Fraumeni Syndrome, Gene Frequency, Risk Factors, CRITERIA, breast-cancer p53 mutations tissue tumors gene neoplasms carcinoma criteria sarcomas risk, Genetics (clinical), Netherlands, Genetics, RISK, education.field_of_study, P53 MUTATIONS, Middle Aged, TUMORS, Phenotype, Mutation (genetic algorithm), Colonic Neoplasms, Female, NEOPLASMS, Adult, medicine.medical_specialty, Genotype, CARCINOMA, Population, Molecular epidemiology [NCEBP 1], Young Adult, Breast cancer, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, BREAST-CANCER, Genetic Predisposition to Disease, Genetic Testing, education, Allele frequency, neoplasms, Germ-Line Mutation, Family Health, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Cancer, medicine.disease, GENE, Pancreatic Neoplasms, SARCOMAS, Li–Fraumeni syndrome, TISSUE, Tumor Suppressor Protein p53, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111cbd6bb5c32db9db64906b0bcc5a52Test
https://hdl.handle.net/1887/108974Test

10

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

المؤلفون: Eveline M. A. Bleiker, Neil K. Aaronson, Encarna Gomez Garcia, Ans M.W. van den Ouweland, Senno Verhoef, Liesbeth Spruijt, Anja Wagner, Annette H. J. T. Vriends, C. R. M. Lammens, Marielle W. G. Ruijs, Rolf H. Sijmons, Rob B. van der Luijt, Maaike Jansweijer, Margreet G. E. M. Ausems

المساهمون: Human Genetics, Clinical Genetics, Faculteit der Geneeskunde, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Human genetics, CCA - Quality of life

المصدر: Familial Cancer, 8, 457-64
Familial cancer, 8(4), 457-464. Springer Netherlands
Familial Cancer, 8(4), 457-464. Springer Netherlands
Lammens, C, Bleiker, E, Aaronson, N, Vriends, A, Ausems, M, Jansweijer, M, Wagner, A, Sijmons, R, van den Ouweland, A, van der Luijt, R, Spruijt, L, Garcia, E G, Ruijs, M W G & Verhoef, S 2009, ' Attitude towards pre-implantation genetic diagnosis for hereditary cancer ', Familial Cancer, vol. 8, no. 4, pp. 457-464 . https://doi.org/10.1007/s10689-009-9265-5Test
Familial Cancer, 8(4), 457-464. SPRINGER
Familial Cancer
Familial Cancer, 8, 4, pp. 457-64

مصطلحات موضوعية: Male, Health Knowledge, Attitudes, Practice, Cancer Research, von Hippel-Lindau Disease, DEMAND, Li-Fraumeni Syndrome, Pregnancy, HISTORY, Epidemiology, Genetics(clinical), Young adult, Genetics (clinical), RISK, Middle Aged, respiratory system, CARRIERS, Oncology, Female, lipids (amino acids, peptides, and proteins), Von Hippel-Lindau disease (VHL), Psychosocial, Adult, ASSISTED REPRODUCTION, medicine.medical_specialty, Age-related aspects of cancer [ONCOL 2], Adolescent, ETHICAL-ISSUES, Affect (psychology), Article, OVARIAN-CANCER, Young Adult, Breast cancer, SDG 3 - Good Health and Well-being, Pre-implantation genetic diagnosis (PGD), Genetics, medicine, Humans, BREAST-CANCER, Genetic Predisposition to Disease, Preimplantation Diagnosis, Aged, Gynecology, Hereditary cancer and cancer-related syndromes [ONCOL 1], LINE P53 MUTATIONS, business.industry, Li-Fraumeni Syndrome (LFS), Cancer, medicine.disease, Hereditary cancer, Socioeconomic Factors, Attitude, Li–Fraumeni syndrome, Li–Fraumeni Syndrome (LFS), Family medicine, LINDAU-DISEASE, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffec84b079a41eb998f3835070ab97b6Test
http://hdl.handle.net/2066/80314Test

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