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Academic Journal

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

  • Authors : Orso M; C.R.E.A. Sanità (Centre for Applied Economic Research in Healthcare), Rome, Italy.; Polistena B

Subjects: Human Growth Hormone*/Human Growth Hormone*/Human Growth Hormone*/deficiency ; Human Growth Hormone*/Human Growth Hormone*/Human Growth Hormone*/economics ; Human Growth Hormone*/Human Growth Hormone*/Human Growth Hormone*/therapeutic use

  • Source: PloS one [PLoS One] 2022 Feb 25; Vol. 17 (2), pp. e0264403. Date of Electronic Publication: 2022 Feb 25 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations.

  • Authors : Mbarek H; Qatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha P.O. Box 5825, Qatar.; Cocca M

Subjects: COVID-19/COVID-19/COVID-19/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics ; Host Microbial Interactions/Host Microbial Interactions/Host Microbial Interactions/*genetics

  • Source: Genes [Genes (Basel)] 2021 Nov 22; Vol. 12 (11). Date of Electronic Publication: 2021 Nov 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Editorial & Opinion

Impact of the COVID-19 pandemic on surgery for thyroid cancer in Italy: nationwide retrospective study.

Subjects: Pandemics* ; Thyroidectomy*; COVID-19/COVID-19/COVID-19/*epidemiology

  • Source: The British journal of surgery [Br J Surg] 2021 Apr 30; Vol. 108 (4), pp. e166-e167.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372553 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients.

  • Authors : Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Andreani M

Subjects: Genetic Predisposition to Disease* ; Haplotypes*; Betacoronavirus/Betacoronavirus/Betacoronavirus/*isolation & purification

  • Source: HLA [HLA] 2020 Nov; Vol. 96 (5), pp. 610-614. Date of Electronic Publication: 2020 Sep 03.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

  • Authors : Salvatore M; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy. .; Polizzi A

Subjects: Registries*; Community Networks/Community Networks/Community Networks/*organization & administration ; Rare Diseases/Rare Diseases/Rare Diseases/*diagnosis

  • Source: Italian journal of pediatrics [Ital J Pediatr] 2020 Sep 14; Vol. 46 (1), pp. 130. Date of Electronic Publication: 2020 Sep 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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Academic Journal

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.

  • Authors : Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Biancolella M

Subjects: Pandemics*; Betacoronavirus/Betacoronavirus/Betacoronavirus/*genetics ; Coronavirus Infections/Coronavirus Infections/Coronavirus Infections/*genetics

  • Source: Human genomics [Hum Genomics] 2020 Sep 11; Vol. 14 (1), pp. 29. Date of Electronic Publication: 2020 Sep 11.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

Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications.

  • Authors : Strafella C; Medical Genetics Laboratory, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy.; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.

Subjects: Genetic Variation*; Coronavirus Infections/Coronavirus Infections/Coronavirus Infections/*pathology ; Nervous System Diseases/Nervous System Diseases/Nervous System Diseases/*complications

  • Source: Genes [Genes (Basel)] 2020 Jul 03; Vol. 11 (7). Date of Electronic Publication: 2020 Jul 03.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

RNAseq-Based Prioritization Revealed COL6A5 , COL8A1 , COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.

  • Authors : Caputo V; Medical Genetics Laboratory, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy.; Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, 00179 Rome, Italy.

Subjects: Collagen Type VI/Collagen Type VI/Collagen Type VI/*metabolism ; Collagen Type VIII/Collagen Type VIII/Collagen Type VIII/*metabolism ; Collagen Type X/Collagen Type X/Collagen Type X/*metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 Apr 15; Vol. 21 (8). Date of Electronic Publication: 2020 Apr 15.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.

  • Authors : Fontana L; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.; Santoro M

Subjects: Myotonic Dystrophy*/Myotonic Dystrophy*/Myotonic Dystrophy*/diagnosis ; Myotonic Dystrophy*/Myotonic Dystrophy*/Myotonic Dystrophy*/genetics ; Myotonic Dystrophy*/Myotonic Dystrophy*/Myotonic Dystrophy*/physiopathology

  • Source: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2020 Mar 01; Vol. 39 (1), pp. 13-18. Date of Electronic Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: eCollection Cited Medium:

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Academic Journal

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

  • Authors : Mannucci L; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy. Electronic address: .; Luciano S

Subjects: DNA Mutational Analysis*; Fibrillin-1/Fibrillin-1/Fibrillin-1/*genetics ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2020 Feb; Vol. 501, pp. 154-164. Date of Electronic Publication: 2019 Nov 12.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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