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1. Full Text Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer
by Velázquez, Carolina and Esteban‐Cardeñosa, Eva M and Lastra, Enrique and Abella, Luis E and de la Cruz, Virginia and Lobatón, Carmen D and Durán, Mercedes and Infante, Mar
Molecular carcinogenesis, ISSN 0899-1987, 01/2019, Volume 58, Issue 1, pp. 156 - 160
BRIP1 | germline mutations | aberrant splicing | hereditary breast and ovarian cancer | Biochemistry & Molecular Biology | Oncology | Life Sciences & Biomedicine | Science & Technology | Genetic research | Breast cancer | Genetic aspects | Analysis | Genetic screening | Pathogens | Transcription | Splicing | Anemia | Fanconi syndrome | DNA repair | Pathogenicity | DNA helicase | Biological effects | Missense mutation | Mutation | Deoxyribonucleic acid--DNA | Cancer | Index Medicus
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2. Full Text A comprehensive custom panel evaluation for routine hereditary cancer testing: Improving the yield of germline mutation detection
by Velázquez, Carolina and Velázquez, Carolina and Lastra, Enrique and Avila Cobos, Francisco and Abella, Luis and De La Cruz, Virginia and Hernando, Blanca Ascensión and Hernández, Lara and Martínez, Noemí and Infante, Mar and Durán, Mercedes
Journal of translational medicine, ISSN 1479-5876, 06/2020, Volume 18, Issue 1, pp. 1 - 232
Hereditary Cancer syndrome | Germline mutation | On-Demand gene panel | Genetic counselling | Next generation sequencing | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | BRCA2 protein | Phenotypes | MLH1 protein | Splicing | Laboratories | Colorectal carcinoma | MSH2 protein | Breast cancer | Ribonucleic acid--RNA | Genetic screening | Ovarian cancer | Sensory evaluation | Mutation | Index Medicus
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3. Full Text Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study
by Baiges, A and Turon, F and Simón-Talero, M and Tasayco, S and Bueno, J and Zekrini, K and Plessier, A and Franchi-Abella, S and Guerin, F and Mukund, A and Eapen, C.E and Goel, A and Shyamkumar, N.K and Coenen, S and Gottardi, A. De and Majumdar, A and Onali, S and Shukla, A and Carrilho, F.J and Nacif, L and Primignani, M and Tosetti, G and Mura, V. La and Nevens, F and Witters, P and Tripathi, D and Tellez, L and Martínez, J and Álvarez-Navascués, C and López, M.L. Fraile and Procopet, B and Piscaglia, F and Koning, B. de and Llop, E and Romero-Cristobal, M and Tjwa, E.T and Monescillo-Francia, A and Senzolo, M and Perez-LaFuente, M and Segarra, A and Sarin, S.K and Hernández-Gea, V and Patch, D and Laleman, W and Hartog, H and Valla, D and Genescà, J and García-Pagán, J.C and REHEVASC VALDIG EASL Consortium and Abernethy Grp and REHEVASC, VALDIG an EASL consortium, Abernethy group and for the REHEVASC, VALDIG an EASL consortium, Abernethy group
Hepatology (Baltimore, Md.), ISSN 0270-9139, 2020, Volume 71, Issue 2, pp. 658 - 669
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Dyspnea | Allografts | Syngeneic grafts | Encephalopathy | Hepatocellular carcinoma | Adenoma | Respiration | Age | Hepatic encephalopathy | Shunts | Tumors | Liver transplantation | Index Medicus
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4. Full Text A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer
by Velázquez, Carolina and Esteban-Cardeñosa, Eva M and Lastra, Enrique and Abella, Luis E and de la Cruz, Virginia and Lobatón, Carmen D and Durán, Mercedes and Infante, Mar
Breast (Edinburgh), ISSN 0960-9776, 02/2019, Volume 43, pp. 91 - 96
Hereditary Breast and Ovarian Cancer | Mutation screening | PALB2 | Germline mutations | Oncology | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Carcinoma - drug therapy | Hereditary Breast and Ovarian Cancer Syndrome - genetics | Frameshift Mutation | Fanconi Anemia Complementation Group N Protein - genetics | Humans | Hereditary Breast and Ovarian Cancer Syndrome - drug therapy | Mutation, Missense | Adenocarcinoma - drug therapy | Breast Neoplasms - drug therapy | Genetic Counseling | Case-Control Studies | Poly(ADP-ribose) Polymerase Inhibitors - therapeutic use | Spain | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Pedigree | Age of Onset | Adult | Carcinoma - genetics | Female | Adenocarcinoma - genetics | Mutation | Ovarian Neoplasms - drug therapy | Care and treatment | Breast cancer | Ovarian cancer | Prevention | Proteins | Gene mutations | Analysis | Medical genetics | Genetic research | Genetic aspects | Diagnosis | Molecular biology | Health aspects | Cancer | Index Medicus
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5. Quality of Life and Poverty: Measurement and Comparability
by Molpeceres-Abella, Mercedes and García-Lapresta, José Luis
International journal of uncertainty, fuzziness, and knowledge-based systems, ISSN 0218-4885, 12/2016, Volume 24, pp. 63 - 85
exponential means | aggregation functions | poverty | dual decomposition | Quality of life | Computer Science, Artificial Intelligence | Technology | Computer Science | Science & Technology
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6. Full Text Germline genetic findings which may impact therapeutic decisions in families with a presumed predisposition for hereditary breast and ovarian cancer
by Velázquez, Carolina and De Leeneer, Kim and Esteban-Cardeñosa, Eva M and Cobos, Francisco Avila and Lastra, Enrique and Abella, Luis E and de la Cruz, Virginia and Lobatón, Carmen D and Claes, Kathleen B and Durán, Mercedes and Infante, Mar
Cancers, ISSN 2072-6694, 08/2020, Volume 12, Issue 8, pp. 1 - 17
Clinical guidelines | Genetic testing | Therapeutic selection | Variant prioritisation | Family history | HBOC | Life Sciences & Biomedicine | Oncology | Science & Technology | BRCA2 protein | Statistical analysis | BRCA1 protein | DNA damage | Genes | Genomes | Breast cancer | Family medical history | Cancer therapies | DNA repair | Ovarian cancer | Defects | Pathogenicity | Disease prevention | Proteins | Chemotherapy | Mutation | Diagnosis | Age | Deoxyribonucleic acid--DNA | Tumors | variant prioritisation | clinical guidelines | genetic testing | family history | therapeutic selection
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7. Full Text Single‐agent daratumumab in patients with relapsed and refractory multiple myeloma requiring dialysis: results of a Spanish retrospective, multicentre study
by Cejalvo, María J and Legarda, Mario and Abella, Eugenia and Cabezudo, Elena and Encinas, Cristina and García‐Feria, Ana and Gironella, Mercedes and Iñigo, Belén and Martín, Jesús and Ribas, Paz and Ruíz, Mª Ángeles and González, Yolanda and Vicuña, Isabel and Ramírez, Ángel and Fernández, Pascual and Rubia, Javier
British journal of haematology, ISSN 0007-1048, 09/2020, Volume 190, Issue 5, pp. e289 - e292
dialysis | multiple myeloma | daratumumab | relapse | Life Sciences & Biomedicine | Hematology | Science & Technology | Care and treatment | Relapse | Multiple myeloma | Diseases | Index Medicus
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8. Full Text Dulaglutide and cardiovascular outcomes in type 2 diabetes (REWIND): a double-blind, randomised placebo-controlled trial
by Dagenais, Gilles R and Lakshmanan, Mark and Pais, Prem and Probstfield, Jeffrey and Riesmeyer, Jeffrey S and Riddle, Matthew C and Rydén, Lars and Dyal, Leanne and Chung, Namsik and Conget, Ignacio and Cushman, William C and Hancu, Nicolae and Holt, Shaun and Jansky, Petr and Keltai, Matyas and Lanas, Fernando and Cardona Munoz, Ernesto German and Pogosova, Nana and Shaw, Jonathan E and Temelkova-Kurktschiev, Theodora and Alebuena, Andrea and Almagro, Sandra and Bustamante Labarta, Miguel and Bustos, Betina and Cantero, Maria and Costamagna, Osvaldo and Cuello, Jose and Cuneo, Carlos and Cusimano, Sandra and Dominguez, Andrea and Fernandez, Alberto and Gallardo, Karina Beatriz and Garcia Duran, Ruben and Gerbaudo, Claudio and Giotto, Ana Paula and Godoy Bolzán, Pedro and Hermida, Sonia and Hrabar, Adrian and Ingaramo, Adrián and Krynski, Mario and Lagrutta, Mariana and Lanchiotti, Paulina and Matias, Re and Pruyas, Lorena and Ricotti, Carola and Rodriguez, Carolina and Romero Vidomlansky, Mariano and Ronderos, Ricardo and Sadowski, Ana Laura and Sala, Jorgelina and Sernia, Virginia and Sicer, Maximiliano and Smith, Tomas and Stival, Jorge and Vallejos, Julio and Virgillito, Luciana and Vogel, Daniel and Zucchiatti, Noemi and Colquhoun, David and Davis, Timothy and Fourlanos, Spiros and Jeffries, William and Lo, Clement and Makepeace, Ashley and Marope, Dolly and Pillai, Satish and Reutens, Anne and Sheikh, Abdul and Smith, Greg and Castro, Denise Ludovico da Costa de and Correa da Cruz, Ivan and Costa, Midiã and Cunha, Sidney and de Carvalho Camara Bona, Renata and Eliaschewitz, Freddy and França, Cesar and Genestreti, Paulo Roberto and Grossman, Michele Elka and Hernandes, Mauro and Horta, Ana and Manenti, Euler Roberto and Marques, Mariana and Mothé, Flávia and Moura, Philip and Moura Jorge, José Carlos and Nakashima, Carlos and Nakazone, Marcelo and Napoli, Thiago and Pizzato, Patricia and Reis, Heleno and Ribas Fortes, Jose and Rossi dos Santos, Fabio and Santos, Thiago and Teireira, M and Dimitrov, Georgi and Dimova, Kameliya and Dragoychev, Tsvetan and Grigorova, Valentina and Ivanov, Ivaylo and Kurktschiev, Dimo and ... and REWIND Investigators
The Lancet (British edition), ISSN 0140-6736, 07/2019, Volume 394, Issue 10193, pp. 121 - 130
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Hypoglycemic Agents - therapeutic use | Stroke - prevention & control | Double-Blind Method | Cardiovascular Diseases - prevention & control | Humans | Middle Aged | Recombinant Fusion Proteins - therapeutic use | Male | Cardiovascular Diseases - mortality | Female | Aged | Glucagon-Like Peptides - therapeutic use | Immunoglobulin Fc Fragments - therapeutic use | Myocardial Infarction - prevention & control | Diabetes Mellitus, Type 2 - drug therapy | Glucagon-Like Peptides - analogs & derivatives | Diabetes Mellitus, Type 2 - complications | Myocardial infarction | Heart attacks | Peptides | Control methods | Glucagon | Clinical trials | Cardiovascular disease | Population studies | Cancer therapies | Evidence-based medicine | Risk factors | Incidence | Randomization | Older people | Hemoglobin | Blood pressure | Diabetes mellitus (non-insulin dependent) | Drug dosages | Glucagon-like peptide 1 | Women | Cerebral infarction | Enzymes | Stroke | Middle age | Diabetes mellitus | Health risks | Hypoglycemia | Risk analysis | Angina pectoris | Disease control | Cholesterol | Thyroid cancer | Agonists | Diabetes | Cardiovascular diseases | Health risk assessment | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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9. Full Text Dulaglutide and renal outcomes in type 2 diabetes: an exploratory analysis of the REWIND randomised, placebo-controlled trial
by Dagenais, Gilles R and Lakshmanan, Mark and Pais, Prem and Probstfield, Jeffrey and Riddle, Matthew C and Rydén, Lars and Dyal, Leanne and Chung, Namsik and Conget, Ignacio and Cushman, William C and Hancu, Nicolae and Holt, Shaun and Jansky, Petr and Keltai, Matyas and Lanas, Fernando and Cardona Munoz, Ernesto German and Pogosova, Nana and Shaw, Jonathan E and Temelkova-Kurktschiev, Theodora and Alebuena, Andrea and Almagro, Sandra and Bustamante Labarta, Miguel and Bustos, Betina and Cantero, Maria and Costamagna, Osvaldo and Cuello, Jose and Cuneo, Carlos and Cusimano, Sandra and Dominguez, Andrea and Fernandez, Alberto and Gallardo, Karina Beatriz and Garcia Duran, Ruben and Gerbaudo, Claudio and Giotto, Ana Paula and Godoy Bolzán, Pedro and Hermida, Sonia and Hrabar, Adrian and Ingaramo, Adrián and Krynski, Mario and Lagrutta, Mariana and Lanchiotti, Paulina and Matias, Re and Pruyas, Lorena and Ricotti, Carola and Rodriguez, Carolina and Romero Vidomlansky, Mariano and Ronderos, Ricardo and Sadowski, Ana Laura and Sala, Jorgelina and Sernia, Virginia and Sicer, Maximiliano and Smith, Tomas and Stival, Jorge and Vallejos, Julio and Virgillito, Luciana and Vogel, Daniel and Zucchiatti, Noemi and Colquhoun, David and Davis, Timothy and Fourlanos, Spiros and Jeffries, William and Lo, Clement and Makepeace, Ashley and Marope, Dolly and Pillai, Satish and Reutens, Anne and Sheikh, Abdul and Smith, Greg and Castro, Denise Ludovico da Costa de and Correa da Cruz, Ivan and Costa, Midiã and Cunha, Sidney and de Carvalho Camara Bona, Renata and Eliaschewitz, Freddy and França, Cesar and Genestreti, Paulo Roberto and Grossman, Michele Elka and Hernandes, Mauro and Horta, Ana and Manenti, Euler Roberto and Marques, Mariana and Mothé, Flávia and Moura, Philip and Moura Jorge, José Carlos and Nakashima, Carlos and Nakazone, Marcelo and Napoli, Thiago and Pizzato, Patricia and Reis, Heleno and Ribas Fortes, Jose and Rossi dos Santos, Fabio and Santos, Thiago and Teireira, M and Dimitrov, Georgi and Dimova, Kameliya and Dragoychev, Tsvetan and Grigorova, Valentina and Ivanov, Ivaylo and Kurktschiev, Dimo and Miletieva, Milena and ... and REWIND Investigators
The Lancet (British edition), ISSN 0140-6736, 07/2019, Volume 394, Issue 10193, pp. 131 - 138
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Hypoglycemic Agents - therapeutic use | Double-Blind Method | Humans | Middle Aged | Recombinant Fusion Proteins - therapeutic use | Male | Albuminuria - prevention & control | Creatinine - urine | Glomerular Filtration Rate - drug effects | Female | Aged | Glucagon-Like Peptides - therapeutic use | Immunoglobulin Fc Fragments - therapeutic use | Diabetes Mellitus, Type 2 - drug therapy | Diabetic Nephropathies - prevention & control | Glucagon-Like Peptides - analogs & derivatives | Myocardial infarction | Therapy | Peptides | Glucagon | Cardiovascular disease | Evidence-based medicine | Risk factors | Incidence | Randomization | Hemoglobin | Blood pressure | Diabetes mellitus (non-insulin dependent) | Glucagon-like peptide 1 | Urine | Creatinine | Cerebral infarction | Stroke | Kidneys | Epidermal growth factor receptors | Diabetes mellitus | Health risks | Risk analysis | Disease control | Agonists | Microvasculature | Diabetes | Kidney diseases | Renal replacement therapy | Gastrointestinal surgery | Cardiovascular diseases | Health risk assessment | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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10. Full Text Endocarditis in patients with ascending aortic prosthetic graft: a case series from a national multicentre registry
by Ramos, Antonio and Ramos, Antonio and García-Montero, Carlos and García-Montero, Carlos and Moreno, Alfonso and Moreno, Alfonso and Muñoz, Patricia and Muñoz, Patricia and Ruiz-Morales, Josefa and Ruiz-Morales, Josefa and Sánchez-Espín, Gemma and Sánchez-Espín, Gemma and Porras, Carlos and Porras, Carlos and Sousa, Dolores and Sousa, Dolores and Castelo, Laura and Castelo, Laura and Fariñas, María del Carmen and Del Carmen Fariñas, María and Gutiérrez, Francisco and Gutiérrez, Francisco and Reguera, José María and Reguera, José María and Plata, Antonio and Plata, Antonio and Bouza, Emilio and Bouza, Emilio and Antorrena, Isabel and Antorrena, Isabel and de Alarcón, Arístides and de Alarcón, Arístides and Pericás, José Manuel and Pericás, José Manuel and Gurguí, Mercedes and Gurguí, Mercedes and Rodríguez-Abella, Hugo and Rodríguez-Abella, Hugo and Goenaga, Miguel ángel and Ángel Goenaga, Miguel and Antonio Oteo, José and Oteo, José Antonio and García-Pavía, Pablo and García-Pavía, Pablo
European journal of cardio-thoracic surgery, ISSN 1010-7940, 2016, Volume 50, Issue 6, pp. 1149 - 1157
Endocarditis | Vascular grafting | Aorta | Thoracic | Propionibacterium acnes | Aorta, Thoracic | Staphylococcus aureus | Cardiac & Cardiovascular Systems | Respiratory System | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Surgery | Science & Technology | Vascular Grafting - methods | Endocarditis, Bacterial - etiology | Humans | Middle Aged | Vascular Grafting - adverse effects | Male | Blood Vessel Prosthesis | Endocarditis, Bacterial - epidemiology | Staphylococcal Infections - epidemiology | Blood Vessel Prosthesis Implantation - adverse effects | Aorta - surgery | Blood Vessel Prosthesis Implantation - methods | Endocarditis, Bacterial - microbiology | Female | Registries | Aged | Staphylococcal Infections - etiology | Index Medicus
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