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Academic Journal

First Survey of SNPs in TMEM154 , TLR9 , MYD88 and CCR5 Genes in Sheep Reared in Italy and Their Association with Resistance to SRLVs Infection.

  • Authors : Arcangeli C; Istituto Zooprofilattico Sperimentale dell'Umbria e delle Marche-Togo Rosati (IZSUM), Via Salvemini 1, 06126 Perugia, Italy.; Dipartimento di Medicina Veterinaria, Università degli Studi di Perugia, Via San Costanzo 4, 06126 Perugia, Italy.

Subjects: Polymorphism, Single Nucleotide*; Disease Resistance/Disease Resistance/Disease Resistance/*genetics ; Lentivirus/Lentivirus/Lentivirus/*genetics

  • Source: Viruses [Viruses] 2021 Jul 01; Vol. 13 (7). Date of Electronic Publication: 2021 Jul 01.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101509722 Publication Model: Electronic Cited Medium: Internet ISSN: 1999-4915

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Two Italian Patients with ELOVL4 -Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

  • Authors : Diociaiuti A; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Subjects: Mutation*; Eye Proteins/Eye Proteins/Eye Proteins/*genetics ; Ichthyosis/Ichthyosis/Ichthyosis/*genetics

  • Source: Genes [Genes (Basel)] 2021 Feb 26; Vol. 12 (3). Date of Electronic Publication: 2021 Feb 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

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

  • Authors : Nardella G; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

Subjects: Sequence Deletion*; Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/*genetics ; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics

  • Source: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 1885-1900. Date of Electronic Publication: 2018 Sep 24.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children.

  • Authors : Zusi C; Pediatric Diabetes and Metabolic Disorders Unit, Department of Surgery, Dentistry, Pediatrics and Gynaecology, University Hospital of Verona, Verona, Italy; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University Hospital of Verona, Verona, Italy.

Subjects: Polymorphism, Single Nucleotide*; Acyltransferases/Acyltransferases/Acyltransferases/*genetics ; Liver Cirrhosis/Liver Cirrhosis/Liver Cirrhosis/*genetics

  • Source: Nutrition, metabolism, and cardiovascular diseases : NMCD [Nutr Metab Cardiovasc Dis] 2021 May 06; Vol. 31 (5), pp. 1548-1555. Date of Electronic Publication: 2021 Feb 04.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9111474 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.

  • Authors : Balagura G; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy. Electronic address: .

Subjects: Dystonia/Dystonia/Dystonia/*genetics ; Epilepsy/Epilepsy/Epilepsy/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics Familial paroxysmal dystonia

  • Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2020 Sep; Vol. 28, pp. 193-197. Date of Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130

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Academic Journal

An Update of the Evolving Epidemic of blaKPC Carrying Klebsiella pneumoniae in Sicily, Italy, 2014: Emergence of Multiple Non-ST258 Clones.

Subjects: Disease Outbreaks*; Bacterial Proteins/Bacterial Proteins/Bacterial Proteins/*genetics ; Klebsiella Infections/Klebsiella Infections/Klebsiella Infections/*epidemiology

  • Source: PloS one [PLoS One] 2015 Jul 15; Vol. 10 (7), pp. e0132936. Date of Electronic Publication: 2015 Jul 15 (Print Publication: 2015).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

Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population.

  • Authors : Angioni S; Department of Surgical Science, University of Cagliari, Cittadella Universitaria Blocco I, Asse Didattico Medicna P2, Monserrato, 09042 Cagliari, Italy.; D'Alterio MN

Subjects: Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics ; Endometriosis/Endometriosis/Endometriosis/*genetics ; Follicle Stimulating Hormone, beta Subunit/Follicle Stimulating Hormone, beta Subunit/Follicle Stimulating Hormone, beta Subunit/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 Mar 04; Vol. 21 (5). Date of Electronic Publication: 2020 Mar 04.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.

  • Authors : Rigoli L; Department of Human Pathology, University of Messina, Messina, Italy.; Aloi C

Subjects: Mutation, Missense*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Wolfram Syndrome/Wolfram Syndrome/Wolfram Syndrome/*genetics

  • Source: Pediatric research [Pediatr Res] 2020 Feb; Vol. 87 (3), pp. 456-462. Date of Electronic Publication: 2019 Jul 02.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.

  • Authors : Corrado L; Department of Health Sciences, University of Eastern Piedmont (UPO), Novara, Italy. .; Brunetti M

Subjects: Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; C9orf72 Protein/C9orf72 Protein/C9orf72 Protein/*genetics ; Genes, Modifier/Genes, Modifier/Genes, Modifier/*genetics

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Dec; Vol. 40 (12), pp. 2537-2540. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited

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Academic Journal

Contribution of a genetic risk score to clinical prediction of hepatic steatosis in obese children and adolescents.

  • Authors : Zusi C; Pediatric Diabetes and Metabolic Disorders Unit, Department of Surgery, Dentistry, Pediatrics and Gynaecology, University Hospital of Verona, Verona, Italy; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University Hospital of Verona, Verona, Italy.

Subjects: Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics ; Lipase/Lipase/Lipase/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver [Dig Liver Dis] 2019 Nov; Vol. 51 (11), Publisher: Elsevier Country of Publication: Netherlands NLM ID: 100958385 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  460 results for ""MEMBRANE proteins""