نتائج البحث - "Other subheadings::Other subheadings::/genetics [Other subheadings]"

1

Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients

المساهمون: Institut Català de la Salut, [Ramos-Campoy S, Puiggros A] Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain. Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d’Investigacions Mèdiques (IMIM), Barcelona, Spain. [Beà S, Costa D] Hematopathology Unit, Hospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), CIBERONC, Barcelona, Spain. [Bougeon S] Oncogenomic Laboratory, Hematology Service, Lausanne University Hospital, Lausanne, Switzerland. [Larráyoz MJ] Cytogenetics and Hematological Genetics Services, Department of Genetics, University of Navarra, Pamplona, Spain. [Ortega M, Bosch F] Servei d’Hematologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: HAEMATOLOGICA
r-FIHGUV. Repositorio Institucional de Producción Científica de la Fundación de Investigación del Hospital General de Valencia
instname
Dadun. Depósito Académico Digital de la Universidad de Navarra
Scientia
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Chronic lymphocytic leukemia, Leucèmia limfocítica crònica - Aspectes genètics, Biology, Genetic Phenomena::Genetic Variation::Mutation::Chromosome Aberrations [PHENOMENA AND PROCESSES], Risk Assessment, NO, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Complex Karyotype, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, In patient, microarrays, Chromosome Aberrations, Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology::Genomics [DISCIPLINES AND OCCUPATIONS], Chronic lymphocytic leukmia, genomic complexity, Genome complexity, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Karyotype, Genomics, Hematology, Prognosis, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, Chromosome Banding, Genòmica, Anomalies cromosòmiques, Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Lymphoid::Leukemia, B-Cell::Leukemia, Lymphocytic, Chronic, B-Cell [DISEASES], Área de Biomedicina, 030220 oncology & carcinogenesis, disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::biología::biología computacional::genómica [DISCIPLINAS Y OCUPACIONES], Mutation, Risk stratification, Cohort, DNA microarray, fenómenos genéticos::variación genética::mutación::aberraciones cromosómicas [FENÓMENOS Y PROCESOS], neoplasias::neoplasias por tipo histológico::leucemia::leucemia linfoide::leucemia de células B::leucemia linfocítica crónica de células B [ENFERMEDADES], 030215 immunology

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0246e8a7bd7915b1adde1b3996bc485eTest
https://doi.org/10.3324/haematol.2020.274456Test

2

Practical considerations for optimising homologous recombination repair mutation testing in patients with metastatic prostate cancer

المؤلفون: David Gonzalez, Alexander W. Wyatt, Joaquin Mateo, Michelle Shiller, Leonard G. Gomella, Albrecht Stenzinger, Ros Eeles, Anders Bjartell, Frédérique Penault-Llorca, Federico Rojo

المساهمون: Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Institut Català de la Salut, [Gonzalez D] Patrick G Johnston Centre for Cancer Research, Queen’s University, Belfast, UK. [Mateo J] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Stenzinger A] Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany. [Rojo F] Department of Pathology, IIS-Hospital Universitario Fundación Jiménez Díaz-CIBERONC, Madrid, Spain. [Shiller M] Department of Pathology, Baylor University Medical Center, Dallas, TX, USA. [Wyatt AW] Vancouver Prostate Centre, Department of Urologic Sciences, University of British Columbia, Vancouver, BC, Canada, Vall d'Hebron Barcelona Hospital Campus

المصدر: Journal of Pathology: Clinical Research
Journal of Pathology: Clinical Research, Wiley Open Access, In press, ⟨10.1002/cjp2.203⟩
Scientia
The Journal of Pathology: Clinical Research
Gonzalez, D, Mateo, J, Stenzinger, A, Rojo, F, Shiller, M, Wyatt, A W, Penault-Llorca, F, Gomella, L G, Eeles, R & Bjartell, A 2021, ' Practical considerations for optimising homologous recombination repair mutation testing in patients with metastatic prostate cancer ', The Journal of Pathology: Clinical Research . https://doi.org/10.1002/cjp2.203Test
The Journal of Pathology: Clinical Research, Vol 7, Iss 4, Pp 311-325 (2021)

مصطلحات موضوعية: Male, Oncology, ADN - Reparació, Indoles, [SDV]Life Sciences [q-bio], Review, Other subheadings::Other subheadings::/drug therapy [Other subheadings], Poly (ADP-Ribose) Polymerase Inhibitor, Piperazines, Prostate cancer, chemistry.chemical_compound, 0302 clinical medicine, Clinical pathway, Pathology, RB1-214, Pathology, Molecular, ComputingMilieux_MISCELLANEOUS, 0303 health sciences, Otros calificadores::Otros calificadores::/genética [Otros calificadores], mCRPC, 3. Good health, Prostatic Neoplasms, Castration-Resistant, 030220 oncology & carcinogenesis, medicine.medical_specialty, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Poly(ADP-ribose) Polymerase Inhibitors, metastatic prostate cancer, homologous recombination repair, Pathology and Forensic Medicine, Olaparib, molecular diagnostics, fenómenos químicos::fenómenos bioquímicos::reparación del ADN::reparación del ADN por recombinación [FENÓMENOS Y PROCESOS], 03 medical and health sciences, SDG 3 - Good Health and Well-being, Metàstasi, Internal medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Rucaparib, 030304 developmental biology, Chemical Phenomena::Biochemical Phenomena::DNA Repair::Recombinational DNA Repair [PHENOMENA AND PROCESSES], business.industry, Prostatic Neoplasms, Recombinational DNA Repair, Pròstata - Càncer - Tractament, medicine.disease, Molecular diagnostics, Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Male::Prostatic Neoplasms::Prostatic Neoplasms, Castration-Resistant [DISEASES], chemistry, poly(ADP‐ribose) polymerase inhibitors, neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales masculinos::neoplasias de la próstata::neoplasias prostáticas resistentes a la castración [ENFERMEDADES], Mutation, Phthalazines, Personalized medicine, business, Homologous recombination

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ac0b84518f6ea72980fcece1d656c4Test
https://doi.org/10.1002/cjp2.203Test

3

Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients

المؤلفون: Judith Abarca-Zabalía, Pilar López-Cotarelo, Manuel Comabella, Yolanda Aladro, Teresa Agudo-Jiménez, Belen Pilo, Elena Urcelay, Adela González-Jiménez, Laura Espino-Paisán

المساهمون: Institut Català de la Salut, [López-Cotarelo P, González-Jiménez A] Laboratorio de Investigación en Genética y Bases Moleculares de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain. Red Española de Esclerosis Múltiple (REEM), Madrid, Spain. [Agudo-Jiménez T, Abarca-Zabalía J] Laboratorio de Investigación en Genética y Bases Moleculares de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain. [Aladro Y, Pilo B] Neurology Department, Hospital Universitario de Getafe, Madrid, Spain. [Comabella M] Servei de Neurologia-Neuroimmunologia, Centre d’Esclerosi Múltiple de Catalunya (CEMCAT), Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Red Española de Esclerosis Múltiple (REEM), Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientia

مصطلحات موضوعية: Male, Esclerosi múltiple - Aspectes genètics, T-Lymphocytes, Gene Expression, Autoimmunity, Basal (phylogenetics), fenómenos genéticos::variación genética::polimorfismo genético::polimorfismo de nucleótido único [FENÓMENOS Y PROCESOS], B-Lymphocytes, Multidisciplinary, Genètica humana, medicine.diagnostic_test, Otros calificadores::Otros calificadores::/genética [Otros calificadores], CD69, Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosis [DISEASES], Middle Aged, Genetic Phenomena::Genetic Variation [PHENOMENA AND PROCESSES], enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::enfermedades autoinmunes desmielinizantes del SNC::esclerosis múltiple [ENFERMEDADES], Medicine, Female, Adult, medicine.medical_specialty, Multiple Sclerosis, Science, Biology, Peripheral blood mononuclear cell, Polymorphism, Single Nucleotide, Article, Immune system, Western blot, Downregulation and upregulation, Internal medicine, fenómenos genéticos::variación genética [FENÓMENOS Y PROCESOS], medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], Immunogenetics, Humans, Allele, Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [PHENOMENA AND PROCESSES], Multiple sclerosis, Polimorfisme genètic, Genetic Variation, Membrane Proteins, medicine.disease, Gene regulation in immune cells, Endocrinology, Genetic markers, Carrier Proteins, Neurological disorders

وصف الملف: application/pdf; image/jpeg

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f388d85995737210bb8c4ee2f6acde1Test
http://europepmc.org/articles/PMC8560952Test

4

Role of VEGF Polymorphisms in the Susceptibility and Severity of Interstitial Lung Disease

المساهمون: Institut Català de la Salut, Vall d'Hebron Barcelona Hospital Campus, Universidad de Cantabria

المصدر: Biomedicines, Vol 9, Iss 458, p 458 (2021)
Biomedicines
Volume 9
Issue 5
Scientia
Biomedicines . 2021 Apr 22;9(5):458
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

مصطلحات موضوعية: idiopathic interstitial pneumonia, medicine.medical_specialty, Pulmons - Malalties - Aspectes genètics, Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Interstitial [DISEASES], QH301-705.5, Medicine (miscellaneous), Interstitial lung disease, Gastroenterology, General Biochemistry, Genetics and Molecular Biology, Pulmonary function testing, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::Receptor Protein-Tyrosine Kinases::Receptors, Vascular Endothelial Growth Factor [CHEMICALS AND DRUGS], Lung Disorder, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genotype, Proteïnes quinases - Receptors, medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, genetics, Idiopathic interstitial pneumonia, Biology (General), health care economics and organizations, interstitial lung disease, vascular endothelial growth factor, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Haplotype, Biomarker, respiratory system, medicine.disease, respiratory tract diseases, Vascular endothelial growth factor, 030228 respiratory system, chemistry, enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales [ENFERMEDADES], 030220 oncology & carcinogenesis, Biomarker (medicine), enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-tirosina cinasas::receptores proteína-tirosina cinasas::receptores del factor de crecimiento del endotelio vascular [COMPUESTOS QUÍMICOS Y DROGAS], biomarker, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b03977d86c2562597f540c38ff3003Test
https://www.mdpi.com/2227-9059/9/5/458Test

5

Comparison of the Clinical Sensitivity of the Idylla Platform and the OncoBEAM RAS CRC Assay for KRAS Mutation Detection in Liquid Biopsy Samples

المؤلفون: Maria Rosario Chica Parrado, Maria Auxiliadora Gómez-España, Eduardo Díaz-Rubio, Manuel Benavides, Ana Vivancos, Marta Toledano, Enrique Aranda, Vanesa García-Barberán, Martina Alvarez, Elena Elez

المساهمون: Institut Català de la Salut, [Vivancos A] Grup de genòmica del Càncer, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. [Aranda E, Gómez-España MA] Department of Medical Oncology, Reina Sofía University Hospital, CIBERONC, Córdoba, Spain. [Benavides M] Department of Medical Oncology, Hospital Universitario Regional y Virgen de la Victoria, Málaga, Spain. [Élez E] Servei d’Oncologia Mèdica, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. [Toledano M] IMIBIC Instituto Maimonides Investigación Biomédica de Córdoba, Córdoba, Spain., Hospital Verge de la Cinta de Tortosa

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientia
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, Colorectal cancer, Mutant, DNA Mutational Analysis, lcsh:Medicine, medicine.disease_cause, Gastroenterology, 0302 clinical medicine, Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Cytodiagnosis::Biopsy::Liquid Biopsy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Other subheadings::/diagnosis [Other subheadings], lcsh:Science, Early Detection of Cancer, enzimas y coenzimas::enzimas::hidrolasas::ácido anhídrido hidrolasas::GTP fosfohidrolasas::proteínas de unión al GTP::proteínas de unión al GTP monoméricas::proteínas ras::proteínas protooncogénicas p21(ras) [COMPUESTOS QUÍMICOS Y DROGAS], Aged, 80 and over, Mutation, Multidisciplinary, Otros calificadores::Otros calificadores::/genética [Otros calificadores], neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales [ENFERMEDADES], Enzimas y Coenzimas::Enzimas::Hidrolasas::Ácido Anhídrido Hidrolasas::GTP Fosfohidrolasas::Proteínas de Unión al GTP::Proteínas de Unión al GTP Monoméricas::Proteínas ras::Proteínas Proto-Oncogénicas p21(ras) [COMPUESTOS QUÍMICOS Y DROGAS], Middle Aged, Prognosis, diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::técnicas citológicas::citodiagnóstico::biopsia::biopsia líquida [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Female, KRAS, Colorectal Neoplasms, Biòpsia, Cell-Free Nucleic Acids, Oncogens Ras, Neoplasias::Neoplasias por Localización::Neoplasias del Sistema Digestivo::Neoplasias Gastrointestinales::Neoplasias Intestinales::Neoplasias Colorrectales [ENFERMEDADES], Adult, medicine.medical_specialty, Concordance, Otros calificadores::/diagnóstico [Otros calificadores], Article, Cancer screening, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Gastrointestinal cancer, Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms [DISEASES], Internal medicine, medicine, Biomarkers, Tumor, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Liquid biopsy, Allele, neoplasms, Aged, Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases::GTP-Binding Proteins::Monomeric GTP-Binding Proteins::ras Proteins::Proto-Oncogene Proteins p21(ras) [CHEMICALS AND DRUGS], business.industry, lcsh:R, Liquid Biopsy, medicine.disease, digestive system diseases, 030104 developmental biology, Còlon - Càncer - Diagnòstic, lcsh:Q, business, 030217 neurology & neurosurgery, Kras mutation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c48f78c860ebc9726fe6397f0efd05Test
http://link.springer.com/article/10.1038/s41598-019-45616-yTest

6

Targeted long-read sequencing reveals clonally expanded HBV-associated chromosomal translocations in patients with chronic hepatitis B

المؤلفون: Nicholas van Buuren, Ricardo Ramirez, Cameron Soulette, Vithika Suri, Dong Han, Lindsey May, Scott Turner, P.C. Parvangada, Ross Martin, Henry L.Y. Chan, Patrick Marcellin, Maria Buti, Nam Bui, Neeru Bhardwaj, Anuj Gaggar, Li Li, Hongmei Mo, Becket Feierbach

المساهمون: Institut Català de la Salut, [van Buuren N, Ramirez R, Soulette C, Suri V, Han D, May L] Gilead Sciences Inc., Foster City, CA, USA. [Buti M] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Transcripció genètica, Infections::Infections::Virus Diseases::DNA Virus Infections::Hepadnaviridae Infections::Hepatitis B::Infections::Virus Diseases::Hepatitis B, Chronic [DISEASES], Hepatology, Otros calificadores::Otros calificadores::/genetica [Otros calificadores], fenómenos químicos::fenómenos bioquímicos::transcripción genética [FENÓMENOS Y PROCESOS], Other subheadings::Other subheadings::/genetics [Other subheadings], Gastroenterology, Internal Medicine, Genetic Phenomena::Gene Expression::Transcription, Genetic [PHENOMENA AND PROCESSES], Immunology and Allergy, Hepatitis B - Aspectes genètics, virosis::infecciones por virus ADN::infecciones por Hepadnaviridae::hepatitis B::hepatitis B crónica [ENFERMEDADES]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d27e71d336449edfc1fcdeff7a95276fTest
https://doi.org/10.1016/j.jhepr.2022.100449Test

7

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

المساهمون: Universidad de Alicante. Departamento de Biotecnología, Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología, Biotecnología, Genética Humana y de Mamíferos (GHM), Institut Català de la Salut, [Sánchez-Heras AB] Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital General Universitario de Elche, Elche, Spain. [Castillejo A] Molecular Genetics Unit, Hospital General Universitario de Elche, Elche, Spain. [García-Díaz JD] Clinical Genetics Unit, Department of Internal Medicine, University Hospital Príncipe de Asturias, Alcalá de Henares, Spain. [Robledo M] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Madrid, Spain. [Teulé A] Hereditary Cancer Program, Catalan Institute of Oncology, Instituto de Investigación Biomédica de Bellvitge, Hospitalet de Llobregat, Spain. [Sánchez R] Unidad Multidisciplinar de Enfermedades de Baja Prevalencia, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Hospital General Universitario de Alicante, Alicante, Spain. [López-Fernández A, Balmaña J] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Cancers
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Scientia
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Dipòsit Digital de la UB
Universidad de Barcelona
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Volume 12
Issue 11
r-FHPC. Repositorio Institucional de Producción Científica de la Fundación del Hospital Provincial de Castellón
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
r-FISABIO. Repositorio Institucional de Producción Científica
Cancers, Vol 12, Iss 3277, p 3277 (2020)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Cancer cells, medicine.disease_cause, urologic and male genital diseases, Male Urogenital Diseases::Urogenital Neoplasms::Urologic Neoplasms::Kidney Neoplasms::Male Urogenital Diseases::Carcinoma, Renal Cell [DISEASES], FH gene, 0302 clinical medicine, Malalties hereditàries, Missense mutation, FH gene, hereditary leiomyomatosis, leiomyomas, missense pathogenic variants, renal cell cancer, Renal cell cancer, Mutation, Kidney diseases, Hereditary leiomyomatosis, Otros calificadores::Otros calificadores::/genética [Otros calificadores], enfermedades urogenitales masculinas::neoplasias urogenitales::neoplasias urológicas::neoplasias renales::enfermedades urogenitales masculinas::carcinoma de células renales [ENFERMEDADES], leiomyomas, missense pathogenic variants, renal cell cancer, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Rare diseases, Geographic Locations::Europe::Spain [GEOGRAPHICALS], 030220 oncology & carcinogenesis, Cohort, Cèl·lules canceroses, Malalties rares, Renal Cell Cancers, Genetic disorders, medicine.medical_specialty, Missense pathogenic variants, Biología Celular, lcsh:RC254-282, Article, 03 medical and health sciences, Leiomyomas, Internal medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Ronyons - Malalties - Espanya, localizaciones geográficas::Europa (continente)::España [DENOMINACIONES GEOGRÁFICAS], business.industry, neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido muscular::leiomioma::leiomiomatosis [ENFERMEDADES], Retrospective cohort study, medicine.disease, Genética, 030104 developmental biology, Fumarase, Clinical diagnosis, Hereditary leiomyomatosis and renal cell cancer syndrome, Malalties del ronyó, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Connective and Soft Tissue::Neoplasms, Muscle Tissue::Leiomyoma::Leiomyomatosis [DISEASES], hereditary leiomyomatosis, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e93ce3b0db93156404976e82b01c35c8Test
http://hdl.handle.net/10045/110274Test

8

Genetic Aspects of Myelodysplastic/Myeloproliferative Neoplasms

المؤلفون: Palomo Sanchís, Laura, Acha, Pamela, Sole, F., Universitat Autònoma de Barcelona

المساهمون: Institut Català de la Salut, [Palomo L] MDS Group, Institut de Recerca Contra la Leucèmia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Bellaterra, Spain. Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Acha P, Solé F] MDS Group, Institut de Recerca Contra la Leucèmia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Cancers
Scientia
Cancers, Vol 13, Iss 2120, p 2120 (2021)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Myeloid, Myelodysplastic/myeloproliferative neoplasms, Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], Review, Disease, Gene mutation, cytogenetics, Cytogenetics, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, RC254-282, fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS], molecular landscape, gene mutations, Otros calificadores::Otros calificadores::/genética [Otros calificadores], business.industry, Myelodysplastic syndromes, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, food and beverages, medicine.disease, Molecular landscape, Peripheral blood, Trastorns mieloproliferatius - Aspectes genètics, enfermedades hematológicas y linfáticas::enfermedades hematológicas::enfermedades de la médula ósea::enfermedades mielodisplásicas-mieloproliferativas [ENFERMEDADES], Síndromes mielodisplàsiques - Aspectes genètics, Anomalies cromosòmiques, 030104 developmental biology, medicine.anatomical_structure, myelodysplastic/myeloproliferative neoplasms, 030220 oncology & carcinogenesis, Gene mutations, Bone marrow, Differential diagnosis, business, Hemic and Lymphatic Diseases::Hematologic Diseases::Bone Marrow Diseases::Myelodysplastic-Myeloproliferative Diseases [DISEASES]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc669533d1a1d37254d4e6974e28209Test
https://doi.org/10.3390/cancers13092120Test

9

Shared heritability and functional enrichment across six solid cancers

المؤلفون: Graham G. Giles, Diana Eccles, Cezary Cybulski, Catherine M. Tangen, Leon Raskin, Per Hall, Ana Vega, Hedy S. Rennert, Andrew T. Chan, Stephan Lam, Michael Hoffmeister, Angeline S. Andrew, Claudine Isaacs, Matthias W. Beckmann, Vessela N. Kristensen, Julia A. Knight, Mark S. Goldberg, Jonathan Tyrer, Jane C. Figueiredo, Katherine L. Nathanson, Anna deFazio, Ian G. Campbell, Nora Pashayan, Liene Nikitina-Zake, Goska Leslie, Rosalind A. Eeles, Line Bjørge, Adonina Tardón, Angela Cox, Gregory Idos, Evgeny N. Imyanitov, Manolis Kogevinas, Marc Tischkowitz, Hilary K. Finucane, Hardev Pandha, Rayjean J. Hung, Davor Lessel, Richard S. Houlston, Andrew F. Olshan, André Lopes Carvalho, James D. McKay, Kenneth Offit, Penelope M. Webb, Barry S. Rosenstein, Melinda C. Aldrich, Alice S. Whittemore, Austin Miller, Miguel E. Aguado-Barrera, Amanda E. Toland, Anna Marie Mulligan, Catharine M L West, Susan J. Ramus, Jennifer Stone, David C. Christiani, Clarice R. Weinberg, Olivia Fletcher, Kyriaki Michailidou, Demetrius Albanes, Chu Chen, Jenny L Donovan, Linda E. Kelemen, Carolina Ellberg, Hermann Brenner, Eitan Friedman, Sara Margolin, Jacek Gronwald, Argyrios Ziogas, Elisa V. Bandera, Qin Wang, Christopher I. Amos, Swe-Brca, Douglas F. Easton, Karin Sundfeldt, John L. Hopper, Jong Y. Park, Børge G. Nordestgaard, Johanna Schleutker, Freddie C. Hamdy, Alicja Wolk, Graham Casey, Radka Kaneva, Joe Dennis, Francesmary Modugno, Paolo Radice, Aage Haugen, Ralf Bützow, Barbara Burwinkel, Maria A. Caligo, Paul A. Townsend, Daniel D. Buchanan, Håkan Olsson, Li Li, Elza Khusnutdinova, Karina Dalsgaard Sørensen, Marco Montagna, Patricia A. Ganz, Kirsten B. Moysich, Stephen B. Gruber, Geraldine Cancel-Tassin, Mary Anne Rossing, Mads Thomassen, Manuela Gago-Dominguez, Marjanka K. Schmidt, Jolanta Kupryjanczyk, Melissa C. Southey, Finn Cilius Nielsen, Sara Benlloch, Roger L. Milne, Manuel R. Teixeira, Taymaa May, David V. Conti, Thilo Dörk, Kathleen Claes, Manjeet K. Bolla, Douglas A. Levine, Lorelei A. Mucci, Irene L. Andrulis, Carl Blomqvist, Sara Lindström, Marjorie J. Riggan, Ellen L. Goode, Jenny Lester, Jack A. Taylor, Adam S. Kibel, Jyotsna Batra, Stephen N. Thibodeau, Elinor J. Sawyer, Stefania Boccia, Jacques Simard, Robert J. MacInnis, Fredrik Wiklund, Geoffrey Liu, Robert Winqvist, Robert J. Hamilton, Joan Brunet, Olufunmilayo I. Olopade, Jeffrey N. Weitzel, Susan L. Neuhausen, Robert L. Ferris, Georgia Chenevix-Trench, Elizabeth J. van Rensburg, Amanda B. Spurdle, Jeroen R. Huyghe, Stig E. Bojesen, Eric J. Duell, Christopher A. Haiman, Bogdan Pasaniuc, Wilbert H.M. Peters, M. Dawn Teare, Marc T. Goodman, Richa Saxena, Renée T. Fortner, Shanbeh Zienolddiny, Mia M. Gaudet, Stephanie J. Weinstein, Mikael Johansson, Heli Nevanlinna, Nhu D. Le, Rolando Herrero, Peter Kraft, Steven Gallinger, David E. Goldgar, Anna Jakubowska, Paul D.P. Pharoah, Erin M. Siegel, Gabriella Cadoni, Weiva Sieh, Esther M. John, Rebecca Sutphen, Kari Stefansson, Loic Le Marchand, David J. Hunter, Alkes L. Price, Judy Garber, Mary B. Daly, Flavio Lejbkowicz, Lambertus A. Kiemeney, Martha L. Slattery, Arto Mannermaa, Christian F. Singer, Daniele Campa, Hans Brunnström, Hongbing Shen, Els Van Nieuwenhuysen, V. Wendy Setiawan, Penella J. Woll, Catherine M. Phelan, Christopher I. Li, Robert L. Nussbaum, Niclas Håkansson, Triantafillos Liloglou, Stella Koutros, Kjell Grankvist, James D. Brenton, Annika Lindblom, Gad Rennert, Karoline Kuchenbaecker, Martin Lacko, Gary E. Goodman, Fredrick R. Schumacher, Henrik Grönberg, Diana Torres, J. Margriet Collée, Rosa B. Barkardottir, Amit Joshi, Trinidad Caldés, Mary Beth Terry, Jenny Chang-Claude, Paul Brennan, Simon A. Gayther, Mark H. Greene, Daniel R. Barnes, Janet L. Stanford, Miriam Dwek, Christiane Maier, Susanne K. Kjaer, Florentia Fostira, Miranda Pring, Noralane M. Lindor, Harvey A. Risch, David G. Huntsman, Kim De Ruyck, Judith A. Clements, Pooja Middha, Alison M. Dunning, Nadine Tung, Sebastian Stintzing, Michael O. Woods, Stephen J. Chanock, Andrew K. Godwin, Kenneth Muir, Eloiza H. Tajara, Silvia Franceschi, Xia Jiang, Li Hsu, Emily White, Peter T. Campbell, Paul A. James, Josef Heinz-Lenz, Ali Amin Al Olama, Victoria L. Stevens, Lovise Maehle, Fotios Loupakis, Peter Devilee, Orland Diez, Kristin K. Zorn, Stephanie A. Bien, Maria Teresa Landi, Mark A. Jenkins, Amanda I. Phipps, Alfons Meindl, Frank Claessens, Mark N. Brook, Kathryn L. Penney, Digna R. Velez Edwards, Montserrat Garcia-Closas, Diether Lambrechts, Zsofia Kote-Jarai, Fergus J. Couch, Duncan Thomas, Kathryn L. Terry, Ute Hamann, Heike Bickeböller, Christopher K. Edlund, Ana Osorio, Younghun Han, Jochen Hampe, Tee Kay-Khaw, Corina Lesseur, Peter A. Fasching, Lesley McGuffog, Eunjung Lee, Tabea Kühl, Andy R Ness, Kamila Czene, Angela Risch, Aocs Mod SQuaD, Jeri Kim, Anna H. Wu, Jacqueline M. Lane, Brenda Diergaarde, Ruth C. Travis, Julie M. Cunningham, Philip Lazarus, Shelley S. Tworoger, Natalia Antonenkova, Emmanouil Saloustros, Wei Zheng, Javier Benitez, Dijana Plaseska-Karanfilska, Mark C. Weissler, Marcia Cruz Correa, Hoda Anton-Culver, Neil E. Caporaso, Cornelia M. Ulrich, Stephanie L. Schmit, Antonis C. Antoniou, Victor Moreno, David E. Neal, Tanja Pejovic, Erich H-Wichmann, Pascal Guénel, Mattias Johansson, Florian Heitz, Beth Y. Karlan, Sonja I. Berndt, Anthony J. Swerdlow, Estrid Høgdall, Hiltrud Brauch, Ulrike Peters, D. Gareth Evans, Celine M. Vachon, Edith Olah, Dale P. Sandler, Lisa F. Newcomb, Michael T. Parsons, Lisa A. Cannon-Albright, Peter J. Hulick, José A. García-Sáenz, Sue A. Ingles, Andrew Berchuck, Peter Hillemanns, Matthew B. Schabath, Polly A. Newcomb, Banu Arun, Xifeng Wu, Darya Prokofyeva, Jan Lubinski, Susanne M. Arnold, Natalia Bogdanova, Drakoulis Yannoukakos, Nawaid Usmani, Kristan J. Aronson, Chul Yun-Hong, Monique J. Roobol

المساهمون: Clinical Genetics, Urology, Læknadeild (HÍ), Faculty of Medicine (UI), Lífvísindasetur (HÍ), Biomedical Center (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Finucane, Hilary K [0000-0003-3864-9828], Schumacher, Fredrick R [0000-0002-3073-7463], Schmit, Stephanie L [0000-0001-5931-1194], Michailidou, Kyriaki [0000-0001-7065-1237], Kuchenbaecker, Karoline B [0000-0001-9726-603X], Dennis, Joe [0000-0003-4591-1214], Huyghe, Jeroen R [0000-0001-6027-9806], Andrulis, Irene L [0000-0002-4226-6435], Arnold, Susanne M [0000-0001-6542-9551], Barnes, Daniel R [0000-0002-3781-7570], Batra, Jyotsna [0000-0003-4646-6247], Bojesen, Stig E [0000-0002-4061-4133], Brauch, Hiltrud [0000-0001-7531-2736], Brenton, James D [0000-0002-5738-6683], Brook, Mark N [0000-0002-8969-2378], Brunet, Joan [0000-0003-1945-3512], Brunnström, Hans [0000-0001-7402-138X], Buchanan, Daniel D [0000-0003-2225-6675], Campbell, Ian [0000-0002-7773-4155], Cancel-Tassin, Géraldine [0000-0002-9583-6382], Chan, Andrew T [0000-0001-7284-6767], Chanock, Stephen J [0000-0002-2324-3393], Claes, Kathleen BM [0000-0003-0841-7372], Cunningham, Julie M [0000-0002-8159-3025], Devilee, Peter [0000-0002-8023-2009], Ellberg, Carolina [0000-0001-7297-0645], Fasching, Peter A [0000-0003-4885-8471], Liloglou, Triantafillos [0000-0003-0460-1404], Fletcher, Olivia [0000-0001-9387-7116], García-Sáenz, José A [0000-0001-6880-0301], Grankvist, Kjell [0000-0003-4289-2097], Greene, Mark H [0000-0003-1852-9239], Gronberg, Henrik [0000-0002-1073-2753], Guénel, Pascal [0000-0002-8359-518X], Hampe, Jochen [0000-0002-2421-6127], Houlston, Richard [0000-0002-5268-0242], Hulick, Peter J [0000-0001-8397-4078], James, Paul [0000-0002-4361-4657], Jenkins, Mark A [0000-0002-8964-6160], Joshi, Amit D [0000-0001-7581-6934], Lambrechts, Diether [0000-0002-3429-302X], Leslie, Goska [0000-0001-5756-6222], Lessel, Davor [0000-0003-4496-244X], Levine, Douglas A [0000-0003-1038-8232], Miller, Austin [0000-0001-9739-8462], Milne, Roger L [0000-0001-5764-7268], Moreno, Victor [0000-0002-2818-5487], Muir, Kenneth [0000-0001-6429-988X], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Newcomb, Polly A [0000-0001-8786-0043], Nikitina-Zake, Liene [0000-0003-2491-5187], Nordestgaard, Børge G [0000-0002-1954-7220], Olama, Ali Amin Al [0000-0002-7178-3431], Olopade, Olufunmilayo I [0000-0002-9936-1599], Pashayan, Nora [0000-0003-0843-2468], Parsons, Michael T [0000-0003-3242-8477], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Raskin, Leon [0000-0003-1195-7214], Rennert, Gad [0000-0002-8512-068X], Risch, Angela [0000-0002-8026-5505], Roobol, Monique J [0000-0001-6967-1708], Saloustros, Emmanouil [0000-0002-0485-0120], Schabath, Matthew B [0000-0003-3241-3216], Schleutker, Johanna [0000-0002-1863-0305], Schmidt, Marjanka K [0000-0002-2228-429X], Sorensen, Karina Dalsgaard [0000-0002-4902-5490], Stintzing, Sebastian [0000-0002-3297-5801], Stone, Jennifer [0000-0001-5077-0124], Tardon, Adonina [0000-0001-5150-1209], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Aguado-Barrera, Miguel Elías [0000-0002-7822-6726], Webb, Penelope M [0000-0003-0733-5930], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Zheng, Wei [0000-0003-1226-070X], Ziogas, Argyrios [0000-0003-4529-3727], Peters, Ulrike [0000-0001-5666-9318], Eeles, Rosalind A [0000-0002-3698-6241], Brennan, Paul J [0000-0002-0518-8714], Easton, Douglas F [0000-0003-2444-3247], Pharoah, Paul DP [0000-0001-8494-732X], Price, Alkes L [0000-0002-2971-7975], Apollo - University of Cambridge Repository, Institut Català de la Salut, [Jiang X] Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. Unit of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. [Finucane HK] Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [Schumacher FR] Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. Seidman Cancer Center, University Hospitals, Cleveland, OH, USA. [Schmit SL] Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA. Department of Gastrointestinal Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA. [Tyrer JP] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK. [Han Y] Department of Biomedical Data Science, The Geisel School of Medicine at Dartmouth, Lebanon, NH, USA. [Diez O] Grup d'Oncogenètica, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain, Hospital Universitari Vall d'Hebron, Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University, Cancer Research UK (Reino Unido), NIHR - Comprehensive Biomedical Research Centre, Guy ’ s & St. Thomas ’ NHS Foundation Trust, NIHR - Oxford Biomedical Research Centre (Reino Unido), German Cancer Research Center, Consejo Nacional de Ciencia y Tecnología (CONACyT), King College London, National Health and Medical Research Council (Australia), Canadian Institutes of Health Research, The BREast Oncology GAlician Network (BREOGAN, Dietmar-Hopp Foundation, Helmholtz Society and the German Cancer Research Center (DKFZ), Asociación Española Contra el Cáncer, Vall d'Hebron Barcelona Hospital Campus, Clinicum, Department of Oncology, University of Helsinki, Department of Pathology, Medicum, Department of Obstetrics and Gynecology, HUS Comprehensive Cancer Center

المصدر: Jiang, X, Finucane, H K, Schumacher, F R, Schmit, S L, Tyrer, J P, Han, Y, Michailidou, K, Lesseur, C, Kuchenbaecker, K B, Dennis, J, Conti, D V, Casey, G, Gaudet, M M, Huyghe, J R, Albanes, D, Aldrich, M C, Andrew, A S, Andrulis, I L, Anton-Culver, H, Antoniou, A C, Antonenkova, N N, Arnold, S M, Aronson, K J, Arun, B K, Bandera, E V, Barkardottir, R B, Barnes, D R, Batra, J, Beckmann, M W, Benitez, J, Benlloch, S, Berchuck, A, Berndt, S I, Bickeböller, H, Bien, S A, Blomqvist, C, Boccia, S, Bogdanova, N V, Bojesen, S E, Bolla, M K, Brauch, H, Brenner, H, Brenton, J D, Brook, M N, Brunet, J, Brunnström, H, Buchanan, D D, Burwinkel, B, Butzow, R, Cadoni, G, Caldés, T, Caligo, M A, Campbell, I, Campbell, P T, Cancel-Tassin, G, Cannon-Albright, L, Campa, D, Caporaso, N, Carvalho, A L, Chan, A T, Chang-Claude, J, Chanock, S J, Chen, C, Christiani, D C, Claes, K B M, Claessens, F, Clements, J, Collée, J M, Correa, M C, Couch, F J, Cox, A, Cunningham, J M, Cybulski, C, Czene, K, Daly, M B, deFazio, A, Devilee, P, Diez, O, Gago-Dominguez, M, Donovan, J L, Dörk, T, Duell, E J, Dunning, A M, Dwek, M, Eccles, D M, Edlund, C K, Edwards, D R V, Ellberg, C, Evans, D G, Fasching, P A, Ferris, R L, Liloglou, T, Figueiredo, J C, Fletcher, O, Fortner, R T, Fostira, F, Franceschi, S, Friedman, E, Gallinger, S J, Ganz, P A, Garber, J, García-Sáenz, J A, Gayther, S A, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, Goode, E L, Goodman, M T, Goodman, G, Grankvist, K, Greene, M H, Gronberg, H, Gronwald, J, Guénel, P, Håkansson, N, Hall, P, Hamann, U, Hamdy, F C, Hamilton, R J, Hampe, J, Haugen, A, Heitz, F, Herrero, R, Hillemanns, P, Hoffmeister, M, Høgdall, E, Hong, Y-C, Hopper, J L, Houlston, R, Hulick, P J, Hunter, D J, Huntsman, D G, Idos, G, Imyanitov, E N, Ingles, S A, Isaacs, C, Jakubowska, A, James, P, Jenkins, M A, Johansson, M, Johansson, M, John, E M, Joshi, A D, Kaneva, R, Karlan, B Y, Kelemen, L E, Kühl, T, Khaw, K-T, Khusnutdinova, E, Kibel, A S, Kiemeney, L A, Kim, J, Kjaer, S K, Knight, J A, Kogevinas, M, Kote-Jarai, Z, Koutros, S, Kristensen, V N, Kupryjanczyk, J, Lacko, M, Lam, S, Lambrechts, D, Landi, M T, Lazarus, P, Le, N D, Lee, E, Lejbkowicz, F, Lenz, H-J, Leslie, G, Lessel, D, Lester, J, Levine, D A, Li, L, Li, C I, Lindblom, A, Lindor, N M, Liu, G, Loupakis, F, Lubiński, J, Maehle, L, Maier, C, Mannermaa, A, Marchand, L L, Margolin, S, May, T, McGuffog, L, Meindl, A, Middha, P, Miller, A, Milne, R L, MacInnis, R J, Modugno, F, Montagna, M, Moreno, V, Moysich, K B, Mucci, L, Muir, K, Mulligan, A M, Nathanson, K L, Neal, D E, Ness, A R, Neuhausen, S L, Nevanlinna, H, Newcomb, P A, Newcomb, L F, Nielsen, F C, Nikitina-Zake, L, Nordestgaard, B G, Nussbaum, R L, Offit, K, Olah, E, Olama, A A A, Olopade, O I, Olshan, A F, Olsson, H, Osorio, A, Pandha, H, Park, J Y, Pashayan, N, Parsons, M T, Pejovic, T, Penney, K L, Peters, W H M, Phelan, C M, Phipps, A I, Plaseska-Karanfilska, D, Pring, M, Prokofyeva, D, Radice, P, Stefansson, K, Ramus, S J, Raskin, L, Rennert, G, Rennert, H S, van Rensburg, E J, Riggan, M J, Risch, H A, Risch, A, Roobol, M J, Rosenstein, B S, Rossing, M A, De Ruyck, K, Saloustros, E, Sandler, D P, Sawyer, E J, Schabath, M B, Schleutker, J, Schmidt, M K, Setiawan, V W, Shen, H, Siegel, E M, Sieh, W, Singer, C F, Slattery, M L, Sorensen, K D, Southey, M C, Spurdle, A B, Stanford, J L, Stevens, V L, Stintzing, S, Stone, J, Sundfeldt, K, Sutphen, R, Swerdlow, A J, Tajara, E H, Tangen, C M, Tardon, A, Taylor, J A, Teare, M D, Teixeira, M R, Terry, M B, Terry, K L, Thibodeau, S N, Thomassen, M, Bjørge, L, Tischkowitz, M, Toland, A E, Torres, D, Townsend, P A, Travis, R C, Tung, N, Tworoger, S S, Ulrich, C M, Usmani, N, Vachon, C M, Van Nieuwenhuysen, E, Vega, A, Aguado-Barrera, M E, Wang, Q, Webb, P M, Weinberg, C R, Weinstein, S, Weissler, M C, Weitzel, J N, West, C M L, White, E, Whittemore, A S, Wichmann, H-E, Wiklund, F, Winqvist, R, Wolk, A, Woll, P, Woods, M, Wu, A H, Wu, X, Yannoukakos, D, Zheng, W, Zienolddiny, S, Ziogas, A, Zorn, K K, Lane, J M, Saxena, R, Thomas, D, Hung, R J, Diergaarde, B, McKay, J, Peters, U, Hsu, L, García-Closas, M, Eeles, R A, Chenevix-Trench, G, Brennan, P J, Haiman, C A, Simard, J, Easton, D F, Gruber, S B, Pharoah, P D P, Price, A L, Pasaniuc, B, Amos, C I, Kraft, P & Lindström, S 2019, ' Shared heritability and functional enrichment across six solid cancers ', Nature Communications, vol. 10, no. 1, 431, pp. 1-23 . https://doi.org/10.1038/s41467-018-08054-4Test
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Jiang, X, Finucane, H K, Schumacher, F R, Schmit, S L, Tyrer, J P, Han, Y, Michailidou, K, Lesseur, C, Kuchenbaecker, K B, Dennis, J, Conti, D V, Casey, G, Gaudet, M M, Huyghe, J R, Albanes, D, Aldrich, M C, Andrew, A S, Andrulis, I L, Anton-Culver, H, Antoniou, A C, Antonenkova, N N, Arnold, S M, Aronson, K J, Arun, B K, Bandera, E V, Barkardottir, R B, Barnes, D R, Batra, J, Beckmann, M W, Benitez, J, Benlloch, S, Berchuck, A, Berndt, S I, Bickeböller, H, Bien, S A, Blomqvist, C, Boccia, S, Bogdanova, N V, Bojesen, S E, Bolla, M K, Brauch, H, Brenner, H, Brenton, J D, Brook, M N, Brunet, J, Brunnström, H, Buchanan, D D, Burwinkel, B, Butzow, R, Cadoni, G, Caldés, T, Caligo, M A, Campbell, I, Campbell, P T, Cancel-Tassin, G, Cannon-Albright, L, Campa, D, Caporaso, N, Carvalho, A L, Chan, A T, Chang-Claude, J, Chanock, S J, Chen, C, Christiani, D C, Claes, K B M, Claessens, F, Clements, J, Collée, J M, Correa, M C, Couch, F J, Cox, A, Cunningham, J M, Cybulski, C, Czene, K, Daly, M B, deFazio, A, Devilee, P, Diez, O, Gago-Dominguez, M, Donovan, J L, Dörk, T, Duell, E J, Dunning, A M, Dwek, M, Eccles, D M, Edlund, C K, Edwards, D R V, Ellberg, C, Evans, D G, Fasching, P A, Ferris, R L, Liloglou, T, Figueiredo, J C, Fletcher, O, Fortner, R T, Fostira, F, Franceschi, S, Friedman, E, Gallinger, S J, Ganz, P A, Garber, J, García-Sáenz, J A, Gayther, S A, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, Goode, E L, Goodman, M T, Goodman, G, Grankvist, K, Greene, M H, Gronberg, H, Gronwald, J, Guénel, P, Håkansson, N, Hall, P, Hamann, U, Hamdy, F C, Hamilton, R J, Hampe, J, Haugen, A, Heitz, F, Herrero, R, Hillemanns, P, Hoffmeister, M, Høgdall, E, Hong, Y-C, Hopper, J L, Houlston, R, Hulick, P J, Hunter, D J, Huntsman, D G, Idos, G, Imyanitov, E N, Ingles, S A, Isaacs, C, Jakubowska, A, James, P, Jenkins, M A, Johansson, M, Johansson, M, John, E M, Joshi, A D, Kaneva, R, Karlan, B Y, Kelemen, L E, Kühl, T, Khaw, K-T, Khusnutdinova, E, Kibel, A S, Kiemeney, L A, Kim, J, Kjaer, S K, Knight, J A, Kogevinas, M, Kote-Jarai, Z, Koutros, S, Kristensen, V N, Kupryjanczyk, J, Lacko, M, Lam, S, Lambrechts, D, Landi, M T, Lazarus, P, Le, N D, Lee, E, Lejbkowicz, F, Lenz, H-J, Leslie, G, Lessel, D, Lester, J, Levine, D A, Li, L, Li, C I, Lindblom, A, Lindor, N M, Liu, G, Loupakis, F, Lubiński, J, Maehle, L, Maier, C, Mannermaa, A, Marchand, L L, Margolin, S, May, T, McGuffog, L, Meindl, A, Middha, P, Miller, A, Milne, R L, MacInnis, R J, Modugno, F, Montagna, M, Moreno, V, Moysich, K B, Mucci, L, Muir, K, Mulligan, A M, Nathanson, K L, Neal, D E, Ness, A R, Neuhausen, S L, Nevanlinna, H, Newcomb, P A, Newcomb, L F, Nielsen, F C, Nikitina-Zake, L, Nordestgaard, B G, Nussbaum, R L, Offit, K, Olah, E, Olama, A A A, Olopade, O I, Olshan, A F, Olsson, H, Osorio, A, Pandha, H, Park, J Y, Pashayan, N, Parsons, M T, Pejovic, T, Penney, K L, Peters, W H M, Phelan, C M, Phipps, A I, Plaseska-Karanfilska, D, Pring, M, Prokofyeva, D, Radice, P, Stefansson, K, Ramus, S J, Raskin, L, Rennert, G, Rennert, H S, van Rensburg, E J, Riggan, M J, Risch, H A, Risch, A, Roobol, M J, Rosenstein, B S, Rossing, M A, De Ruyck, K, Saloustros, E, Sandler, D P, Sawyer, E J, Schabath, M B, Schleutker, J, Schmidt, M K, Setiawan, V W, Shen, H, Siegel, E M, Sieh, W, Singer, C F, Slattery, M L, Sorensen, K D, Southey, M C, Spurdle, A B, Stanford, J L, Stevens, V L, Stintzing, S, Stone, J, Sundfeldt, K, Sutphen, R, Swerdlow, A J, Tajara, E H, Tangen, C M, Tardon, A, Taylor, J A, Teare, M D, Teixeira, M R, Terry, M B, Terry, K L, Thibodeau, S N, Thomassen, M, Bjørge, L, Tischkowitz, M, Toland, A E, Torres, D, Townsend, P A, Travis, R C, Tung, N, Tworoger, S S, Ulrich, C M, Usmani, N, Vachon, C M, Van Nieuwenhuysen, E, Vega, A, Aguado-Barrera, M E, Wang, Q, Webb, P M, Weinberg, C R, Weinstein, S, Weissler, M C, Weitzel, J N, West, C M L, White, E, Whittemore, A S, Wichmann, H-E, Wiklund, F, Winqvist, R, Wolk, A, Woll, P, Woods, M, Wu, A H, Wu, X, Yannoukakos, D, Zheng, W, Zienolddiny, S, Ziogas, A, Zorn, K K, Lane, J M, Saxena, R, Thomas, D, Hung, R J, Diergaarde, B, McKay, J, Peters, U, Hsu, L, García-Closas, M, Eeles, R A, Chenevix-Trench, G, Brennan, P J, Haiman, C A, Simard, J, Easton, D F, Gruber, S B, Pharoah, P D P, Price, A L, Pasaniuc, B, Amos, C I, Kraft, P & Lindström, S 2019, ' Shared heritability and functional enrichment across six solid cancers ', Nature Communications, vol. 10, no. 1, 431 . https://doi.org/10.1038/s41467-018-08054-4Test
Nature Communications, 10(1):431. Nature Publishing Group
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Scientia
Recercat: Dipósit de la Recerca de Catalunya
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Nat. Commun. 10:431 (2019)
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Jiang, X, Lindström, S & et al. 2019, ' Shared heritability and functional enrichment across six solid cancers ', Nature Communications, vol. 10, no. 1, 431 . https://doi.org/10.1038/s41467-018-08054-4Test
Jiang, Xia; Finucane, Hilary K; Schumacher, Fredrick R; Schmit, Stephanie L; Tyrer, Jonathan P; Han, Younghun; et al.(2019). Shared heritability and functional enrichment across six solid cancers. NATURE COMMUNICATIONS, 10(1), 431. doi: 10.1038/s41467-018-08054-4. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/42x44002Test
Repisalud
Instituto de Salud Carlos III (ISCIII)
Recercat. Dipósit de la Recerca de Catalunya
Nature Communications, Vol 10, Iss 1, Pp 1-23 (2019)
Jiang, X, Finucane, H K, Schumacher, F R, Schmit, S L, Tyrer, J P, Han, Y, Michailidou, K, Lesseur, C, Kuchenbaecker, K B, Dennis, J, Conti, D V, Casey, G, Gaudet, M M, Huyghe, J R, Albanes, D, Aldrich, M C, Andrew, A S, Andrulis, I L, Anton-Culver, H, Antoniou, A C, Antonenkova, N N, Arnold, S M, Aronson, K J, Arun, B K, Bandera, E V, Barkardottir, R B, Barnes, D R, Batra, J, Beckmann, M W, Benitez, J, Benlloch, S, Berchuck, A, Berndt, S I, Bickeböller, H, Bien, S A, Blomqvist, C, Boccia, S, Bogdanova, N V, Bojesen, S E, Bolla, M K, Brauch, H, Brenner, H, Brenton, J D, Brook, M N, Brunet, J, Brunnström, H, Buchanan, D D, Burwinkel, B, Butzow, R, Cadoni, G, Caldés, T, Caligo, M A, Campbell, I, Campbell, P T, Cancel-Tassin, G, Cannon-Albright, L, Campa, D, Caporaso, N, Carvalho, A L, Chan, A T, Chang-Claude, J, Chanock, S J, Chen, C, Christiani, D C, Claes, K B M, Claessens, F, Clements, J, Collée, J M, Correa, M C, Couch, F J, Cox, A, Cunningham, J M, Cybulski, C, Czene, K, Daly, M B, deFazio, A, Devilee, P, Diez, O, Gago-Dominguez, M, Donovan, J L, Dörk, T, Duell, E J, Dunning, A M, Dwek, M, Eccles, D M, Edlund, C K, Edwards, D R V, Ellberg, C, Evans, D G, Fasching, P A, Ferris, R L, Liloglou, T, Figueiredo, J C, Fletcher, O, Fortner, R T, Fostira, F, Franceschi, S, Friedman, E, Gallinger, S J, Ganz, P A, Garber, J, García-Sáenz, J A, Gayther, S A, Giles, G G, Godwin, A K, Goldberg, M S, Goldgar, D E, Goode, E L, Goodman, M T, Goodman, G, Grankvist, K, Greene, M H, Gronberg, H, Gronwald, J, Guénel, P, Håkansson, N, Hall, P, Hamann, U, Hamdy, F C, Hamilton, R J, Hampe, J, Haugen, A, Heitz, F, Herrero, R, Hillemanns, P, Hoffmeister, M, Høgdall, E, Hong, Y-C, Hopper, J L, Houlston, R, Hulick, P J, Hunter, D J, Huntsman, D G, Idos, G, Imyanitov, E N, Ingles, S A, Isaacs, C, Jakubowska, A, James, P, Jenkins, M A, Johansson, M, Johansson, M, John, E M, Joshi, A D, Kaneva, R, Karlan, B Y, Kelemen, L E, Kühl, T, Khaw, K-T, Khusnutdinova, E, Kibel, A S, Kiemeney, L A, Kim, J, Kjaer, S K, Knight, J A, Kogevinas, M, Kote-Jarai, Z, Koutros, S, Kristensen, V N, Kupryjanczyk, J, Lacko, M, Lam, S, Lambrechts, D, Landi, M T, Lazarus, P, Le, N D, Lee, E, Lejbkowicz, F, Lenz, H-J, Leslie, G, Lessel, D, Lester, J, Levine, D A, Li, L, Li, C I, Lindblom, A, Lindor, N M, Liu, G, Loupakis, F, Lubiński, J, Maehle, L, Maier, C, Mannermaa, A, Marchand, L L, Margolin, S, May, T, McGuffog, L, Meindl, A, Middha, P, Miller, A, Milne, R L, MacInnis, R J, Modugno, F, Montagna, M, Moreno, V, Moysich, K B, Mucci, L, Muir, K, Mulligan, A M, Nathanson, K L, Neal, D E, Ness, A R, Neuhausen, S L, Nevanlinna, H, Newcomb, P A, Newcomb, L F, Nielsen, F C, Nikitina-Zake, L, Nordestgaard, B G, Nussbaum, R L, Offit, K, Olah, E, Olama, A A A, Olopade, O I, Olshan, A F, Olsson, H, Osorio, A, Pandha, H, Park, J Y, Pashayan, N, Parsons, M T, Pejovic, T, Penney, K L, Peters, W H M, Phelan, C M, Phipps, A I, Plaseska-Karanfilska, D, Pring, M, Prokofyeva, D, Radice, P, Stefansson, K, Ramus, S J, Raskin, L, Rennert, G, Rennert, H S, van Rensburg, E J, Riggan, M J, Risch, H A, Risch, A, Roobol, M J, Rosenstein, B S, Rossing, M A, De Ruyck, K, Saloustros, E, Sandler, D P, Sawyer, E J, Schabath, M B, Schleutker, J, Schmidt, M K, Setiawan, V W, Shen, H, Siegel, E M, Sieh, W, Singer, C F, Slattery, M L, Sorensen, K D, Southey, M C, Spurdle, A B, Stanford, J L, Stevens, V L, Stintzing, S, Stone, J, Sundfeldt, K, Sutphen, R, Swerdlow, A J, Tajara, E H, Tangen, C M, Tardon, A, Taylor, J A, Teare, M D, Teixeira, M R, Terry, M B, Terry, K L, Thibodeau, S N, Thomassen, M, Bjørge, L, Tischkowitz, M, Toland, A E, Torres, D, Townsend, P A, Travis, R C, Tung, N, Tworoger, S S, Ulrich, C M, Usmani, N, Vachon, C M, Van Nieuwenhuysen, E, Vega, A, Aguado-Barrera, M E, Wang, Q, Webb, P M, Weinberg, C R, Weinstein, S, Weissler, M C, Weitzel, J N, West, C M L, White, E, Whittemore, A S, Wichmann, H-E, Wiklund, F, Winqvist, R, Wolk, A, Woll, P, Woods, M, Wu, A H, Wu, X, Yannoukakos, D, Zheng, W, Zienolddiny, S, Ziogas, A, Zorn, K K, Lane, J M, Saxena, R, Thomas, D, Hung, R J, Diergaarde, B, McKay, J, Peters, U, Hsu, L, García-Closas, M, Eeles, R A, Chenevix-Trench, G, Brennan, P J, Haiman, C A, Simard, J, Easton, D F, Gruber, S B, Pharoah, P D P, Price, A L, Pasaniuc, B, Amos, C I, Kraft, P & Lindström, S 2019, ' Shared heritability and functional enrichment across six solid cancers ', Nature Communications, vol. 10, no. 1, pp. 431 . https://doi.org/10.1038/s41467-018-08054-4Test
Nature Communications, 2019, vol. 10, art. núm. 431
Articles publicats (IdIBGi)
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NATURE COMMUNICATIONS

مصطلحات موضوعية: Oncology, Male, Lung Neoplasms, Colorectal cancer, Epidemiology, Inheritance Patterns, Genome-wide association study, 02 engineering and technology, Colorectal Neoplasms/diagnosis, Càncer - Aspectes genètics, 0302 clinical medicine, Neoplasm Proteins/genetics, Brjóstakrabbamein, PARTITIONING HERITABILITY, lcsh:Science, Càncer, Cancer genetics, Cancer, Càncer - Estudi de casos, Ovarian Neoplasms, Prostatic Neoplasms/diagnosis, 0303 health sciences, Otros calificadores::Otros calificadores::/genética [Otros calificadores], 1184 Genetics, developmental biology, physiology, Genomics, Publisher Correction, ddc, 3. Good health, Neoplasm Proteins, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Etiologia, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Neoplasias [ENFERMEDADES], ICEP, Erfðarannsóknir, 0210 nano-technology, Genetic Phenomena::Inheritance Patterns [PHENOMENA AND PROCESSES], medicine.medical_specialty, Biolääketieteet - Biomedicine, Science, Lung Neoplasms/diagnosis, European Continental Ancestry Group, Genetic correlation, Article, General Biochemistry, Genetics and Molecular Biology, White People, GENETIC ARCHITECTURE, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Syöpätaudit - Cancers, BREAST-CANCER, Humans, Otros calificadores::Otros calificadores::Otros calificadores::/etnología [Otros calificadores], Polymorphism, GENOME-WIDE ASSOCIATION, solid cancers, heritability, enrichment, Settore MED/42 - IGIENE GENERALE E APPLICATA, ResearchInstitutes_Networks_Beacons/mcrc, Fenómenos Genéticos::Patrón de Herencia [FENÓMENOS Y PROCESOS], ANALYSES IDENTIFY, Biology and Life Sciences, fenómenos genéticos::patrones de herencia [FENÓMENOS Y PROCESOS], medicine.disease, Càncer -- Etiologia, 030104 developmental biology, Case-Control Studies, RISK-FACTORS, lcsh:Q, 0301 basic medicine, Etiology, Medizin, General Physics and Astronomy, técnicas de investigación::métodos epidemiológicos::características de los estudios epidemiológicos::estudios epidemiológicos::estudios de casos y controles [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], head and neck, Prostate cancer, Medicine and Health Sciences, Càncer -- Aspectes genètics, Multidisciplinary, Manchester Cancer Research Centre, Mental Disorders, Codi genètic, Smoking, Single Nucleotide, 021001 nanoscience & nanotechnology, Phenotype, Centre for Surgical Research, Cancer -- Etiology, MENDELIAN RANDOMIZATION, Female, Smoking/ethnology, Colorectal Neoplasms, Mental Disorders/ethnology, Medical Genetics, Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics::Epidemiologic Studies::Case-Control Studies [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT], Cancer Etiology, Técnicas de Investigación::Métodos Epidemiológicos::Características de Estudios Epidemiológicos::Estudios Epidemiológicos::Estudios de Casos y Controles [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], SUSCEPTIBILITY LOCI, 3122 Cancers, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, LUNG-CANCER, All institutes and research themes of the Radboud University Medical Center, Internal medicine, MD Multidisciplinary, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Erfðafræði, Genetic Predisposition to Disease, CELL-TYPES, Lung cancer, Krabbamein, Medicinsk genetik, 030304 developmental biology, Ovarian Neoplasms/diagnosis, Faraldsfræði, Prostatic Neoplasms, Breast Neoplasms/diagnosis, General Chemistry, Heritability, Head and Neck Neoplasms/diagnosis, Neoplasms [DISEASES], Genome-Wide Association Study, 3111 Biomedicine, Ovarian cancer, Other subheadings::Other subheadings::Other subheadings::/ethnology [Other subheadings]

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https://findresearcher.sdu.dk:8443/ws/files/146391474/Shared_heritability_and_functional_enrichment.pdfTest

10

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

المؤلفون: Johanna I. Kiiski, Miguel Urioste, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Ana Vega, Irene Konstantopoulou, Ana Blanco, Jesús del Valle, Joan Brunet, Emma Tham, Daniele Calistri, Esther Darder, Taru A. Muranen, Maria Rossing, Åke Borg, Aleksander Myszka, Marketa Janatova, Drakoulis Yannoukakos, Laura Papi, Paolo Peterlongo, Bernardo Bonanni, Florentia Fostira, Catarina Santos, Séverine Eon-Marchais, Anders Kvist, Petra Kleiblova, Snezhana Smichkoska, Manuel R. Teixeira, Vilius Rudaitis, Dijana Plaseska-Karanfilska, Conxi Lázaro, Alicia Barroso, Ugnius Mickys, Mariarosaria Calvello, Edith Olah, Virginie Moncoutier, Zdenek Kleibl, Nadine Andrieu, Rimvydas Norvilas, Stepan Chvojka, Paolo Radice, Jana Soukupova, Birgitte Bertelsen, Siranoush Manoukian, Claude Houdayer, Marta Santamariña, Bernard Peissel, Zdenka Vlckova, Ana Osorio, Laura Cortesi, Jacopo Azzollini, Katerina Kubelka-Sabit, Fabienne Lesueur, Valentina Zampiga, Tu Nguyen-Dumont, Javier Benitez, Gisella Figlioli, Hans Ehrencrona, Orland Diez, Therese Törngren, Judith Balmaña, Francesca Gensini, Ruta Marcinkute, Timea Pocza, Angela Toss, Dominique Stoppa-Lyonnet, Ana Peixoto, Heli Nevanlinna

المساهمون: Institut Català de la Salut, [Figlioli G] Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan, Italy. [Kvist A] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [Tham E] Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. [Soukupova J] Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic. [Kleiblova P] Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [Muranen TA] Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki, Finland. [Balmaña J] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Italian Association for Cancer Research, Fondazione Umberto Veronesi, Ministero della Salute (Italia), Region Stockholm (ALF), Ministry of Health (República Checa), Unión Europea. Comisión Europea, Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras), French National Institute of Cancer (INCa grant), National Health and Medical Research Council (Australia), Hungarian Research Grants, Lietuvos Mokslo Taryba (Lituania), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Associazione Italiana per la Ricerca sul Cancro (AIRC), Ministry of Health, Italy, Ministry of Health, Czech Republic, European Commission, Instituto de Salud Carlos III - ISCIII, Spanish Network on Rare Diseases (CIBERER), National Health and Medical Research Council of Australia, Research Council of Lithuania (LMTLT), European Regional Development Fund (ERDF/FEDER), HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Helsinki University Hospital Area, University of Helsinki, INDIVIDRUG - Individualized Drug Therapy, Clinicum

المصدر: Scientia
Cancers, Basel : MDPI AG, 2020, vol. 12, no. 2, art. no. 292, p. [1-14]
Dipòsit Digital de la UB
Universidad de Barcelona
Repisalud
Instituto de Salud Carlos III (ISCIII)
Cancers, Vol 12, Iss 2, p 292 (2020)
Cancers
Figlioli, G, Kvist, A, Tham, E, Soukupova, J, Kleiblova, P, Muranen, T A, Andrieu, N, Azzollini, J, Balmaña, J, Barroso, A, Benítez, J, Bertelsen, B, Blanco, A, Bonanni, B, Borg, Å, Brunet, J, Calistri, D, Calvello, M, Chvojka, S, Cortesi, L, Darder, E, Del Valle, J, Diez, O, Eon-Marchais, S, Fostira, F, Gensini, F, Houdayer, C, Janatova, M, Kiiski, J I, Konstantopoulou, I, Kubelka-Sabit, K, Lázaro, C, Lesueur, F, Manoukian, S, Marcinkute, R, Mickys, U, Moncoutier, V, Myszka, A, Nguyen-Dumont, T, Nielsen, F C, Norvilas, R, Olah, E, Osorio, A, Papi, L, Peissel, B, Peixoto, A, Plaseska-Karanfilska, D, Pócza, T, Rossing, M, Rudaitis, V & ENIGMA Consortium 2020, ' The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases ', Cancers, vol. 12, no. 2, 292 . https://doi.org/10.3390/cancers12020292Test
Volume 12
Issue 2

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Breast cancer risk factors, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], ptvs, Càncer - Aspectes genètics, Basic medicine, Breast cancer, 0302 clinical medicine, Mama - Càncer, hemic and lymphatic diseases, FANCM, Breast cancer predisposition, FANCM truncating variants, Mutation spectrum, PTVs, RISK, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, Otros calificadores::Otros calificadores::/genética [Otros calificadores], FANCM GENE, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, 030220 oncology & carcinogenesis, Gene sequence, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Risk factors in diseases, 3122 Cancers, lcsh:RC254-282, fancm truncating variants, Càncer de mama, breast cancer predisposition, breast cancer risk factors, mutation spectrum, 03 medical and health sciences, Internal medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, ANEMIA, Allele frequency, Female breast cancer, MUTATIONS, business.industry, nutritional and metabolic diseases, BRCA1, medicine.disease, GENE, 030104 developmental biology, Clinical medicine, C.5791C-GREATER-THAN-T, FANCM Protein, business

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50814983c51d7b6f93b23792330c61faTest
https://doi.org/10.3390/cancers12020292Test

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