نتائج البحث - "double heterozygote"

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38018226; info:eu-repo/semantics/altIdentifier/wos/WOS:001110377000001; firstpage:1; lastpage:11; numberofpages:11; journal:ANNALS OF HUMAN GENETICS; https://hdl.handle.net/2434/1021334Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85178231332

الإتاحة: https://doi.org/10.1111/ahg.12540Test
https://hdl.handle.net/2434/1021334Test

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4

دورية أكاديمية

Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients

المؤلفون: Nurmi, Anna, Muranen, Taru A., Pelttari, Liisa M., Kiiski, Johanna I., Heikkinen, Tuomas, Lehto, Sini, Kallioniemi, Anne, Schleutker, Johanna, Bützow, Ralf, Blomqvist, Carl, Aittomäki, Kristiina, Nevanlinna, Heli

المساهمون: Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University

مصطلحات موضوعية: breast cancer, ovarian cancer, moderate-risk gene, double heterozygote, CHEK2, Genetiikka, kehitysbiologia, fysiologia - Genetics, developmental biology, physiology

وصف الملف: fulltext; 2692-2700

العلاقة: 10; International Journal of Cancer; 145; https://trepo.tuni.fi/handle/10024/117353Test; URN:NBN:fi:tuni-201910093763

الإتاحة: https://trepo.tuni.fi/handle/10024/117353Test

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5

Table_1_A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.docx

المؤلفون: Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, BRCA1, ATM, double heterozygote, spliceogenic variant, case report

العلاقة: https://figshare.com/articles/dataset/Table_1_A_novel_BRCA1_splicing_variant_detected_in_an_early_onset_triple-negative_breast_cancer_patient_additionally_carrying_a_pathogenic_variant_in_ATM_A_case_report_docx/22307794Test

الإتاحة: https://doi.org/10.3389/fonc.2023.1102184.s001Test
https://figshare.com/articles/dataset/Table_1_A_novel_BRCA1_splicing_variant_detected_in_an_early_onset_triple-negative_breast_cancer_patient_additionally_carrying_a_pathogenic_variant_in_ATM_A_case_report_docx/22307794Test

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6

دورية أكاديمية

Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.

المؤلفون: Whitworth, James, Stausbøl-Grøn, Brian, Skytte, Anne-Bine

مصطلحات موضوعية: Birt–Hogg–Dubé syndrome, Cerebral cavernous malformation, Double heterozygote, Genetics, Birt-Hogg-Dube Syndrome, Carrier Proteins, Female, Hemangioma, Cavernous, Central Nervous System, Humans, Middle Aged, Mutation, Proto-Oncogene Proteins, Tumor Suppressor Proteins

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/260925Test

الإتاحة: https://doi.org/10.17863/CAM.6091Test
https://www.repository.cam.ac.uk/handle/1810/260925Test

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7

دورية أكاديمية

Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer.

المؤلفون: Mampel, Alejandra, Sottile, Mayra L, Denita-Juárez, Silvina P, Vargas, Ana L, Vargas-Roig, Laura M

المصدر: Cancer Genet ; ISSN:2210-7762 ; Volume:260-261

مصطلحات موضوعية: BRCA1, BRCA2, Breast cancer, Double heterozygote

العلاقة: https://doi.org/10.1016/j.cancergen.2021.11.003Test; https://pubmed.ncbi.nlm.nih.gov/34801929Test

الإتاحة: https://doi.org/10.1016/j.cancergen.2021.11.003Test
https://pubmed.ncbi.nlm.nih.gov/34801929Test

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8

دورية أكاديمية

Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia

المؤلفون: Giammanco A., Spina R., Fayer F., Barbagallo C. M., Noto D., Cefalu A. B., Averna M

المساهمون: Giammanco A., Spina R., Fayer F., Barbagallo C.M., Noto D., Cefalu A.B., Averna M

مصطلحات موضوعية: double heterozygote, familial hypercholesterolaemia, FDB3531, LDL receptor, mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33890362; info:eu-repo/semantics/altIdentifier/wos/WOS:000646627300016; volume:51; issue:4; firstpage:585; lastpage:590; numberofpages:6; journal:INTERNAL MEDICINE JOURNAL; http://hdl.handle.net/10447/531463Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104632076

الإتاحة: https://doi.org/10.1111/imj.15275Test
http://hdl.handle.net/10447/531463Test

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9

Recurrent moderate‐risk mutations in Finnish breast and ovarian cancer patients

المؤلفون: Anne Kallioniemi, Johanna Schleutker, Liisa M. Pelttari, Kristiina Aittomäki, Carl Blomqvist, Sini Lehto, Heli Nevanlinna, Ralf Bützow, Tuomas Heikkinen, Anna Nurmi, Taru A. Muranen, Johanna I. Kiiski

المساهمون: Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University, Department of Clinical Chemistry, BioMediTech, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, University of Helsinki, Genome-Scale Biology (GSB) Research Program, University Management, Department of Pathology, Department of Oncology, Clinicum, HUS Comprehensive Cancer Center, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics

المصدر: International Journal of Cancer

مصطلحات موضوعية: Cancer Research, Datasets as Topic, Gene mutation, Gastroenterology, FAMILY-HISTORY, Cohort Studies, 0302 clinical medicine, FANCM, Prevalence, CONFER SUSCEPTIBILITY, Family history, Medical History Taking, skin and connective tissue diseases, Finland, Aged, 80 and over, Ovarian Neoplasms, double heterozygote, RAD51C, moderate-risk gene, Middle Aged, 3. Good health, ovarian cancer, Oncology, 030220 oncology & carcinogenesis, Female, Adult, Heterozygote, medicine.medical_specialty, PALB2, 3122 Cancers, Breast Neoplasms, Risk Assessment, Cancer Genetics and Epigenetics, Young Adult, 03 medical and health sciences, breast cancer, Breast cancer, Genetiikka, kehitysbiologia, fysiologia - Genetics, developmental biology, physiology, Internal medicine, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, BRCA2 MUTATIONS, Genetic Testing, CHEK2, Genotyping, Aged, business.industry, 217 Medical engineering, medicine.disease, GENE, PREDISPOSITION, moderate‐risk gene, Case-Control Studies, ATM, Mutation, C.5791C-GREATER-THAN-T, Ovarian cancer, business

وصف الملف: fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf67aa043117b895a4a49674ea73195fTest
https://doi.org/10.1002/ijc.32309Test

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Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia

المؤلفون: Angelo B. Cefalù, Maurizio Averna, Davide Noto, Carlo M. Barbagallo, Francesca Fayer, Rossella Spina, Antonina Giammanco

المساهمون: Giammanco A., Spina R., Fayer F., Barbagallo C.M., Noto D., Cefalu A.B., Averna M

المصدر: Internal medicine journalReferences. 51(4)

مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Apolipoprotein B, 030204 cardiovascular system & hematology, Compound heterozygosity, Hyperlipoproteinemia Type II, 03 medical and health sciences, chemistry.chemical_compound, FDB3531, 0302 clinical medicine, Internal medicine, Internal Medicine, medicine, Humans, 030212 general & internal medicine, Apolipoproteins B, double heterozygote, biology, business.industry, Cholesterol, LDL receptor, nutritional and metabolic diseases, Heterozygote advantage, Middle Aged, Endocrinology, chemistry, Italy, Receptors, LDL, Mutation (genetic algorithm), Mutation, familial hypercholesterolaemia, biology.protein, lipids (amino acids, peptides, and proteins), business, Lipoprotein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f5ae44194a323d1df8bedff2616519Test
https://pubmed.ncbi.nlm.nih.gov/33890362Test

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