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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

Post-traumatic stress disorder and subthreshold post-traumatic stress disorder in recent male asylum seekers: An expected but overlooked "European" epidemic.

  • Authors : Sacchetti E; School of Medicine, University of Brescia, Brescia, Italy.; Department of Mental Health, Spedali Civili Hospital, Brescia, Italy.

Subjects: Mental Health*; Refugees/Refugees/Refugees/*psychology ; Stress Disorders, Post-Traumatic/Stress Disorders, Post-Traumatic/Stress Disorders, Post-Traumatic/*diagnosis

  • Source: Stress and health : journal of the International Society for the Investigation of Stress [Stress Health] 2020 Feb; Vol. 36 (1), pp. 37-50. Date of Electronic Publication: 2019 Dec Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101089166 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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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Academic Journal

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

  • Authors : Strafella C; Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, Rome, 00142, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, Rome, 00133, Italy.

Subjects: Mutation*; Chromosomal Proteins, Non-Histone/Chromosomal Proteins, Non-Histone/Chromosomal Proteins, Non-Histone/*genetics ; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods

  • Source: Human molecular genetics [Hum Mol Genet] 2019 Dec 01; Vol. 28 (23), pp. 3912-3920.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

TNFAIP3 Gene Polymorphisms in Three Common Autoimmune Diseases: Systemic Lupus Erythematosus, Rheumatoid Arthritis, and Primary Sjogren Syndrome-Association with Disease Susceptibility and Clinical Phenotypes in Italian Patients.

  • Authors : Ciccacci C; UniCamillus, Saint Camillus International University of Health Sciences, Rome, Italy.; Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Italy.

Subjects: Genetic Predisposition to Disease* ; Polymorphism, Single Nucleotide*; Autoimmune Diseases/Autoimmune Diseases/Autoimmune Diseases/*diagnosis

  • Source: Journal of immunology research [J Immunol Res] 2019 Aug 27; Vol. 2019, pp. 6728694. Date of Electronic Publication: 2019 Aug 27 (Print Publication: 2019).Publisher: Hindawi Publishing Corporation Country of Publication: Egypt NLM ID: 101627166 Publication Model: eCollection Cited Medium: Internet ISSN:

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Academic Journal

STAT4 , TRAF3IP2 , IL10 , and HCP5 Polymorphisms in Sjögren's Syndrome: Association with Disease Susceptibility and Clinical Aspects.

  • Authors : Colafrancesco S; UOC Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, Italy.; Ciccacci C

Subjects: Genetic Predisposition to Disease*; Interleukin-10/Interleukin-10/Interleukin-10/*genetics ; RNA, Long Noncoding/RNA, Long Noncoding/RNA, Long Noncoding/*genetics

  • Source: Journal of immunology research [J Immunol Res] 2019 Feb 10; Vol. 2019, pp. 7682827. Date of Electronic Publication: 2019 Feb 10 (Print Publication: 2019).Publisher: Hindawi Publishing Corporation Country of Publication: Egypt NLM ID: 101627166 Publication Model: eCollection Cited Medium: Internet ISSN:

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