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Academic Journal

Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes.

  • Authors : Latini A; Department of Biomedicine and Prevention, Genetics Section, University of Rome 'Tor Vergata', Rome, Italy. Electronic address: .; Borgiani P

Subjects: Genetic Predisposition to Disease* ; Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/genetics; Humans

  • Source: Gene [Gene] 2024 May 20; Vol. 907, pp. 148279. Date of Electronic Publication: 2024 Feb 13.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

The rs11568820 Variant in the Promoter Region of Vitamin D Receptor Gene Is Associated with Clinical Remission in Rheumatoid Arthritis Patients Receiving Tumor Necrosis Factor Inhibitors.

  • Authors : Latini A; Department of Biomedicine and Prevention, Genetics Section, University of Rome 'Tor Vergata', 00133 Rome, Italy.; De Benedittis G

Subjects: Antirheumatic Agents*/Antirheumatic Agents*/Antirheumatic Agents*/therapeutic use ; Arthritis, Rheumatoid*/Arthritis, Rheumatoid*/Arthritis, Rheumatoid*/drug therapy ; Arthritis, Rheumatoid*/Arthritis, Rheumatoid*/Arthritis, Rheumatoid*/genetics

  • Source: Genes [Genes (Basel)] 2024 Feb 12; Vol. 15 (2). Date of Electronic Publication: 2024 Feb 12.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Are Surgeons Going to Be Left Holding the Bag? Incisional Hernia Repair and Intra-Peritoneal Non-Absorbable Mesh Implant Complications.

  • Authors : Kirkpatrick AW; Regional Trauma Services, Department of Surgery, Critical Care Medicine, University of Calgary, Calgary, AB T2N 2T9, Canada.; TeleMentored Ultrasound Supported Medical Interventions (TMUSMI) Research Group, University of Calgary, Calgary, AB T3H 3W8, Canada.

  • Source: Journal of clinical medicine [J Clin Med] 2024 Feb 09; Vol. 13 (4). Date of Electronic Publication: 2024 Feb 09.Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383

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Report

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.

  • Authors : Minotti C; Medical Genetics Unit, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.; Medical Genetics Section, Depepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.

  • Source: Frontiers in genetics [Front Genet] 2024 Feb 06; Vol. 14, pp. 1315291. Date of Electronic Publication: 2024 Feb 06 (Print Publication: 2023).Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print

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Academic Journal

Longitudinal maternal hemodynamic evaluation in uncomplicated twin pregnancies according to chorionicity: physiological cardiovascular dysfunction in monochorionic twin pregnancy.

  • Authors : Farsetti D; Department of Surgical Sciences, University of Rome Tor Vergata, Rome, Italy.; Department of Obstetrics and Gynecology, Policlinico Casilino, Rome, Italy.

Subjects: Pregnancy, Twin*/Pregnancy, Twin*/Pregnancy, Twin*/physiology ; Placenta*; Pregnancy

  • Source: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Feb; Vol. 63 (2), pp.Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 9108340 Publication Model: Print Cited Medium: Internet ISSN: 1469-0705

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Academic Journal

The economic burden of pediatric growth hormone deficiency in Italy: a cost of illness study.

  • Authors : Cappa M; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Pozzobon G

  • Source: Journal of endocrinological investigation [J Endocrinol Invest] 2024 Jan 10. Date of Electronic Publication: 2024 Jan 10.Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386

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Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

  • Source: Genome medicine [Genome Med] 2024 Jan 06; Vol. 16 (1), pp. 6. Date of Electronic Publication: 2024 Jan 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

Are severity and location of facial trauma risk factors for cervical spine injuries? 10-year analysis based on the use of the AO spine injury classification and the comprehensive facial injury (CFI) score.

  • Authors : Canzi G; Maxillofacial Surgery Unit, Department of Neuroscience - Head & Neck, ASST GOM Niguarda, Milan, Italy.; De Ponti E

Subjects: Facial Injuries*/Facial Injuries*/Facial Injuries*/diagnostic imaging ; Facial Injuries*/Facial Injuries*/Facial Injuries*/epidemiology ; Facial Injuries*/Facial Injuries*/Facial Injuries*/complications

  • Source: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society [Eur Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9301980 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Low expression levels of miRNA-155 and miRNA-499a are associated with obesity in Type 2 diabetes.

  • Authors : Latini A; Department of Biomedicine & Prevention, Genetics Section, University of Rome Tor Vergata, Rome, 00133, Italy.; Benedittis G

Subjects: Circulating MicroRNA* ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/complications ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics

  • Source: Epigenomics [Epigenomics] 2024 Jan; Vol. 16 (2), pp. 85-91. Date of Electronic Publication: 2024 Jan 15.Publisher: Future Medicine Country of Publication: England NLM ID: 101519720 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The analysis of saliva as screening in patients with COVID-like symptoms.

  • Authors : Novelli G; MD, Operative Unit of Maxillo-Facial Surgery, Fondazione IRCCS San Gerardo dei Tintori, 20900, Monza, Italy, and Department of Medicine and Surgery, School of Medicine and Surgery, University of Milano Bicocca, 20900, Monza, Italy.; Moretti M

  • Source: Germs [Germs] 2023 Dec 31; Vol. 13 (4), pp. 388-391. Date of Electronic Publication: 2023 Dec 31 (Print Publication: 2023).Publisher: European Academy of HIV/AIDS and Infectious Diseases Country of Publication: Romania NLM ID: 101596099 Publication Model: eCollection Cited

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Academic Journal

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs.

Subjects: COVID-19* ; Vaccines* ; Interferon Type I*

  • Source: Science immunology [Sci Immunol] 2023 Dec 22; Vol. 8 (90), pp. eabp8966. Date of Electronic Publication: 2023 Dec 22.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101688624 Publication Model: Print-Electronic

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Academic Journal

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

  • Source: Frontiers in neurology [Front Neurol] 2023 Dec 07; Vol. 14, pp. 1296924. Date of Electronic Publication: 2023 Dec 07 (Print Publication: 2023).Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print

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Report

Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.

  • Authors : Marchionni E; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.; D'Apice MR

  • Source: Bone reports [Bone Rep] 2023 Nov 27; Vol. 19, pp. 101728. Date of Electronic Publication: 2023 Nov 27 (Print Publication: 2023).Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101646176 Publication Model: eCollection Cited Medium: Print ISSN:

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Academic Journal

ATG5 gene expression analysis supports the involvement of autophagy in microangiopathic complications of type 2 diabetes.

  • Authors : De Benedittis G; Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, 00133, Rome, Italy.; Latini A

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/complications ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/diagnosis ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics

  • Source: Nutrition, metabolism, and cardiovascular diseases : NMCD [Nutr Metab Cardiovasc Dis] 2023 Sep; Vol. 33 (9), pp. 1797-1799. Date of Electronic Publication: 2023 Jun 24.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9111474 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.

  • Authors : Graziani L; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', 00133 Rome, Italy.; Zampatti S

Subjects: Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/genetics ; Polycystic Kidney Diseases*; Humans

  • Source: Genes [Genes (Basel)] 2023 Aug 06; Vol. 14 (8). Date of Electronic Publication: 2023 Aug 06.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

COVID-19 annual update: a narrative review.

  • Authors : Biancolella M; Department of Biology, Tor Vergata University of Rome, 00133, Rome, Italy.; Colona VL

Subjects: COVID-19*/COVID-19*/COVID-19*/therapy; Humans ; SARS-CoV-2/SARS-CoV-2/SARS-CoV-2/genetics

  • Source: Human genomics [Hum Genomics] 2023 Jul 24; Vol. 17 (1), pp. 68. Date of Electronic Publication: 2023 Jul 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364

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Academic Journal

Impact of HLA Class I Antigen, Killer Inhibitory Receptor, and FCGR3A Genotypes on Breast Cancer Susceptibility and Tumor Stage.

  • Authors : Canossi A; C.N.R. Institute of Translational Pharmacology (IFT), Biomedicine.; Aureli A

  • Source: Current molecular medicine [Curr Mol Med] 2023 Jul 17. Date of Electronic Publication: 2023 Jul 17.Publisher: Bentham Science Publishers Country of Publication: Netherlands NLM ID: 101093076 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

COVID-19: S-Peptide RBD 484-508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients.

  • Authors : Murdocca M; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy.; Citro G

Subjects: COVID-19*; Humans ; T-Lymphocytes

  • Source: Viruses [Viruses] 2023 Jun 22; Vol. 15 (7). Date of Electronic Publication: 2023 Jun 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101509722 Publication Model: Electronic Cited Medium: Internet ISSN: 1999-4915

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Academic Journal

Genetics: A Starting Point for the Prevention and the Treatment of Obesity.

  • Authors : Novelli G; Department of Biomedicine and Prevention, Medical School, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.; Italian Barometer Diabetes Observatory Foundation, IBDO, 00186 Rome, Italy.

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/prevention & control; Adult

  • Source: Nutrients [Nutrients] 2023 Jun 17; Vol. 15 (12). Date of Electronic Publication: 2023 Jun 17.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array.

  • Authors : Visconti VV; Department of Biomedicine and Prevention, Genetics Unit, University of Rome 'Tor Vergata', Via Montpellier 1, 00133 Rome, Italy.; Macrì E

Subjects: Myotonic Dystrophy*/Myotonic Dystrophy*/Myotonic Dystrophy*/genetics; Humans ; Alleles

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jun 14; Vol. 24 (12). Date of Electronic Publication: 2023 Jun 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Report

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.

  • Authors : Graziani L; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy.; Cinnirella G

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/diagnosis ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/pathology Fryns-Aftimos Syndrome; Nonsyndromic sensorineural hearing loss

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1565-1569. Date of Electronic Publication: 2023 Feb 21.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Expression profile of HERVs and inflammatory mediators detected in nasal mucosa as a predictive biomarker of COVID-19 severity.

  • Authors : Petrone V; Department of Experimental Medicine, University of Rome Tor Vergata, Rome, Italy.; Fanelli M

  • Source: Frontiers in microbiology [Front Microbiol] 2023 May 22; Vol. 14, pp. 1155624. Date of Electronic Publication: 2023 May 22 (Print Publication: 2023).Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101548977 Publication Model: eCollection Cited Medium: Print

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Academic Journal

PCSK3 Overexpression in Sjögren's Syndrome Patients May Be Regulated by rs4932178 SNP in Its Promoter Region and Correlates with IFN-γ Gene Expression.

  • Authors : Latini A; Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, 00133 Rome, Italy.; De Benedittis G

Subjects: Furin*/Furin*/Furin*/genetics ; Sjogren's Syndrome*; Humans

  • Source: Genes [Genes (Basel)] 2023 Apr 26; Vol. 14 (5). Date of Electronic Publication: 2023 Apr 26.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Synthesis, molecular docking and antibacterial activity of an oxadiazole-based lipoteichoic acid inhibitor and its metabolites.

  • Authors : Serpi M; School of Chemistry, Cardiff University, Main Building, Park Place, Cardiff, Wales CF10 3AT, United Kingdom.; Pertusati F

  • Source: Journal of molecular structure [J Mol Struct] 2023 Apr 15; Vol. 1278, pp. None.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0141747 Publication Model: Print Cited Medium: Print ISSN: 0022-2860 (Print)

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Academic Journal

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Subjects: COVID-19* ; Interferon Type I*; Humans

  • Source: Genome medicine [Genome Med] 2023 Apr 05; Vol. 15 (1), pp. 22. Date of Electronic Publication: 2023 Apr 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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