0000000000599260

AUTHOR

João Silva

showing 2 related works from this author

Multiple Myeloma Treatment in Real-world Clinical Practice: Results of a Prospective, Multinational, Noninterventional Study.

2018

© 2018 The Authors.

MaleCancer ResearchBoronic Acid[SDV]Life Sciences [q-bio]bortezomib ; global ; observational study ; routine practice ; stem cell transplantationSalvage therapyPractice PatternsDexamethasoneBortezomibRoutine practice0302 clinical medicineBortezomib; Global; Observational study; Routine practice; Stem cell transplantationhemic and lymphatic diseasesObservational studyAntineoplastic Combined Chemotherapy Protocols80 and overProspective StudiesPractice Patterns Physicians'Prospective cohort studyLenalidomideComputingMilieux_MISCELLANEOUSMultiple myelomaAged 80 and overBortezomibStem cell transplantationGlobalHematologyMiddle AgedBoronic Acids3. Good healthThalidomideSurvival RateTreatment OutcomeLocalOncology030220 oncology & carcinogenesisBortezomib; Global; Observational study; Routine practice; Stem cell transplantation; Hematology; Oncology; Cancer ResearchFemaleMultiple MyelomaBortezomib; Global; Observational study; Routine practice; Stem cell transplantation; Adult; Aged; Aged 80 and over; Antineoplastic Combined Chemotherapy Protocols; Boronic Acids; Bortezomib; Dexamethasone; Female; Follow-Up Studies; Humans; Lenalidomide; Male; Middle Aged; Multiple Myeloma; Neoplasm Recurrence Local; Prospective Studies; Survival Rate; Thalidomide; Treatment Outcome; Practice Patterns Physicians'; Salvage Therapymedicine.drugHumanAdultmedicine.medical_specialty/NOFollow-Up Studie03 medical and health sciencesInternal medicinemedicineHumansSurvival rateLenalidomideAgedSalvage TherapyPhysicians'Antineoplastic Combined Chemotherapy Protocolbusiness.industrySettore MED/15medicine.diseaseTransplantationThalidomideSettore MED/15 - MALATTIE DEL SANGUEProspective StudieNeoplasm RecurrenceNeoplasm Recurrence Localbusiness030215 immunologyFollow-Up StudiesClinical lymphoma, myelomaleukemia
researchProduct

Redefining the MED13L syndrome

2015

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…

MaleAdolescentHeart malformationTransposition of Great VesselsRNA polymerase IIBioinformaticsArticleMediatorIntellectual DisabilityIntellectual disabilityGeneticsmedicineTranscriptional regulationHumansAbnormalities MultipleChildTranscription factorGenetics (clinical)GeneticsScience & TechnologyMediator ComplexbiologyMuscular hypotoniaSyndromemedicine.diseasePhenotypeChild PreschoolMutationbiology.proteinMuscle HypotoniaFemaleNeurocognitiveEuropean Journal of Human Genetics
researchProduct