0000000000466423

AUTHOR

F Testa

showing 2 related works from this author

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

2005

Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C --> T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and…

Retinal degenerationDNA Mutational Analysismedicine.disease_causeGene FrequencyPrevalenceAge of OnsetSPLICING-FACTOR GENESChildGenetics (clinical)Genes DominantGeneticsMutationeducation.field_of_studyRNA-Binding ProteinsMiddle AgedDNA-Binding ProteinsBasic-Leucine Zipper Transcription FactorsItalyChild PreschoolMESSENGER-RNAMicrotubule-Associated ProteinsRetinitis PigmentosaFORMAdultRhodopsinmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesAdolescentPopulationRHODOPSIN GENEBiologyMolecular geneticsRetinitis pigmentosaGeneticsmedicineHumansFamilyEye ProteinseducationGeneAllele frequencyHomeodomain ProteinsMUTATIONSmedicine.diseaseeye diseasesMutationTrans-ActivatorsMutation testingOnline Mutation ReportCarrier Proteins
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Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic

2021

Association of Surgeons in Training Surgical Summit, online, 17 Oct 2020 - 17 Oct 2020 2021 Virtual Annual Meeting / Surgical Research Society, online, 24 Mar 2021 - 25 Mar 2021, National Research Collaborative Meeting, online, 10 Dec 2020 - 10 Dec 2020, Royal Australasian College of Surgeons Annual Academic Surgery Conference, online, 5 Nov 2020 - 5 Nov 2020; The British journal of surgery : BJS 108(12), 1448-1464 (2021). doi:10.1093/bjs/znab336

MaleRespiration Artificial/statistics & numerical dataSettore MED/18 - CHIRURGIA GENERALEeducation-Sciences du Vivant [q-bio]/Médecine humaine et pathologieAbdominal NeoplasmPostoperative Complications/mortalityNOsurgeryCohort Studies03 medical and health sciencesCOVID-19; death; SARS-CoV-2; surgery0302 clinical medicinePostoperative ComplicationsdeathHumans030212 general & internal medicinePandemicsAbdominal Neoplasms/surgeryAgedLS7_4COVID-19/mortalityRespiratory Distress SyndromePandemicSARS-CoV-2Respirationsurgical procedures operativemortalitysurgery specialtypandemicspulmonary complicationssars-cov-2covid-19coronavirus pandemicCOVID-19Middle Aged3126 Surgery anesthesiology intensive care radiologyRespiration Artificialsurgical proceduresoperativemortalitysurgery specialtypandemicspulmonary complicationssars-cov-2covid-19coronavirus pandemicAbdominal Neoplasms; Aged; COVID-19; Cohort Studies; Female; Humans; Male; Middle Aged; Pandemics; Postoperative Complications; Respiration Artificial; Respiratory Distress Syndrome; Elective Surgical ProceduresElective Surgical Procedures030220 oncology & carcinogenesisAbdominal NeoplasmsArtificialFemalePostoperative ComplicationCohort Studie[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyRespiratory Distress Syndrome/mortalityHuman
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