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Academic Journal

Population structure and identification of genomic regions associated with productive traits in five Italian beef cattle breeds.

  • Authors : Colombi D; Department of Agricultural, Food and Environmental Sciences (DSA3), University of Perugia, Borgo XX Giugno 74, 06121, Perugia, Italy.; Rovelli G

Subjects: Genome-Wide Association Study* ; Genomics*; Cattle/Cattle/Cattle/genetics

  • Source: Scientific reports [Sci Rep] 2024 Apr 12; Vol. 14 (1), pp. 8529. Date of Electronic Publication: 2024 Apr 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

  • Authors : Strafella C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy.; Colantoni L

Subjects: Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/diagnosis ; Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/genetics; Humans Facioscapulohumeral muscular dystrophy 1a

  • Source: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 335-339. Date of Electronic Publication: 2023 Dec 02.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast.

  • Authors : Cremonini A; Anatomic Pathology Section, Department of Oncology, Bellaria Hospital, AUSL Bologna, Via Altura 3, 40139, Bologna, Italy.; Saragoni L

Subjects: Chromosomes, Human, X* ; DNA Copy Number Variations* ; Gene Dosage*

  • Source: Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 Aug; Vol. 479 (2), pp. 345-354. Date of Electronic Publication: 2021 Feb 03.Publisher: Springer International Country of Publication: Germany NLM ID: 9423843 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Y-chromosome variability and genetic history of Commons from Northern Italy.

  • Authors : Sarno S; Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.; Boscolo Agostini R

Subjects: Chromosomes, Human, Y*/Chromosomes, Human, Y*/Chromosomes, Human, Y*/genetics ; Genetic Drift*; Genetic Variation/Genetic Variation/Genetic Variation/genetics

  • Source: American journal of physical anthropology [Am J Phys Anthropol] 2021 Jul; Vol. 175 (3), pp. 665-679. Date of Electronic Publication: 2021 May 10.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 0400654 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The Italian registry for patients with Prader-Willi syndrome.

  • Authors : Salvatore M; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy. .; Torreri P

Subjects: Prader-Willi Syndrome*/Prader-Willi Syndrome*/Prader-Willi Syndrome*/genetics ; Prader-Willi Syndrome*/Prader-Willi Syndrome*/Prader-Willi Syndrome*/diagnosis; Adolescent

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Feb 15; Vol. 18 (1), pp. 28. Date of Electronic Publication: 2023 Feb 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Y-chromosome and Surname Analyses for Reconstructing Past Population Structures: The Sardinian Population as a Test Case.

  • Authors : Grugni V; Dipartimento di Biologia e Biotecnologie 'L. Spallanzani', Università di Pavia, 27100 Pavia, Italy.; Raveane A

Subjects: Genetics, Population*; Chromosomes, Human, Y/Chromosomes, Human, Y/Chromosomes, Human, Y/*genetics; Chromosomes, Human, Y/Chromosomes, Human, Y/Chromosomes, Human, Y/classification

  • Source: International journal of molecular sciences [Int J Mol Sci] 2019 Nov 16; Vol. 20 (22). Date of Electronic Publication: 2019 Nov 16.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Skin picking disorder in 97 Italian and Spanish Cri du chat patients.

  • Authors : Spunton M; SOC Pediatria, Ospedale Castelli, Verbania, Italy.; Guala A

Subjects: Chromosome Deletion* ; Chromosomes, Human, Pair 5*; Cri-du-Chat Syndrome/Cri-du-Chat Syndrome/Cri-du-Chat Syndrome/*diagnosis

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1525-1530. Date of Electronic Publication: 2019 Jun 12.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

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

  • Authors : Bonati MT; Istituto Auxologico Italiano, IRCCS, Clinic of Medical Genetics, Piazzale Brescia 20, 20149, Milan, Italy. .; Castronovo C

Subjects: Chromosome Duplication* ; Chromosomes, Human, Pair 9*; Histone-Lysine N-Methyltransferase/Histone-Lysine N-Methyltransferase/Histone-Lysine N-Methyltransferase/*genetics

  • Source: Neurogenetics [Neurogenetics] 2019 Aug; Vol. 20 (3), pp. 145-154. Date of Electronic Publication: 2019 Jun 17.Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Estimating Y-Str Mutation Rates and Tmrca Through Deep-Rooting Italian Pedigrees.

  • Authors : Boattini A; Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, 40126, Bologna, Italy. .; Sarno S

Subjects: Chromosomes, Human, Y* ; Mutation Rate*; Microsatellite Repeats/Microsatellite Repeats/Microsatellite Repeats/*genetics

  • Source: Scientific reports [Sci Rep] 2019 Jun 21; Vol. 9 (1), pp. 9032. Date of Electronic Publication: 2019 Jun 21.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Existence of a genetic risk factor on chromosome 5q in Italian coeliac disease families.

  • Authors : Greco L; Dept. of Pediatrics, University of Naples Federico II, Italy. ; Babron MC

Subjects: Chromosomes, Human, Pair 5*; Celiac Disease/Celiac Disease/Celiac Disease/*genetics; Celiac Disease/Celiac Disease/Celiac Disease/ethnology

  • Source: Annals of human genetics [Ann Hum Genet] 2001 Jan; Vol. 65 (Pt 1), pp. 35-41.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print Cited Medium: Print ISSN: 0003-4800 (Print)

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