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Telomere Length and Mitochondrial DNA Copy Number Variations in Patients with Obesity: Effect of Diet-Induced Weight Loss-A Pilot Study.

• Authors : Cancello R; Obesity Unit and Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, 20121 Milano, Italy.; Rey F

Subjects: DNA Copy Number Variations* ; Telomere*/Telomere*/Telomere*/genetics; Humans

• Source: Nutrients [Nutrients] 2022 Oct 14; Vol. 14 (20). Date of Electronic Publication: 2022 Oct 14.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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sciCNV: high-throughput paired profiling of transcriptomes and DNA copy number variations at single-cell resolution.

• Authors : Mahdipour-Shirayeh, Ali¹ (AUTHOR); Erdmann, Natalie¹ (AUTHOR); Leung-Hagesteijn, Chungyee² (AUTHOR)

• Source: Briefings in Bioinformatics. Jan2022, Vol. 23 Issue 1, p1-15. 15p.

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CNVDeep: deep association of copy number variants with neurocognitive disorders.

• Authors : Rahaie, Zahra¹ (AUTHOR); Rabiee, Hamid R.¹ (AUTHOR) ; Alinejad-Rokny, Hamid² (AUTHOR)

• Source: BMC Bioinformatics. 8/29/2024, Vol. 25 Issue 1, p1-25. 25p.

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Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

• Authors : Zouaghi, Yassine^1,2 (AUTHOR); Choudhary, Anbreen Mazhar^3,4 (AUTHOR); Irshad, Saba³ (AUTHOR)

• Source: BMC Genomics. 8/14/2024, Vol. 25 Issue 1, p1-9. 9p.

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De novo genome assembly of white clover (Trifolium repens L.) reveals the role of copy number variation in rapid environmental adaptation.

• Authors : Kuo, Wen-Hsi¹ (AUTHOR); Wright, Sara J.^1,2 (AUTHOR); Small, Linda L.¹ (AUTHOR)

• Source: BMC Biology. 8/7/2024, Vol. 22 Issue 1, p1-18. 18p.

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Single nucleotide and copy number variants of cancer driver genes inform drug response in multiple cancers.

• Authors : Wang, Zeyuan¹ (AUTHOR); Gu, Hong¹ (AUTHOR); Qin, Pan¹ (AUTHOR)

Subjects: *SINGLE nucleotide polymorphisms; *DNA copy number variations; *CANCER genes

• Source: PLoS ONE. 7/31/2024, Vol. 19 Issue 7, p1-20. 20p.

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Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.

• Authors : Parsaei, Mohammadamin^1,2 (AUTHOR); Dashtkoohi, Mohadese³ (AUTHOR); Salmani, Tayyeb Ali⁴ (AUTHOR)

• Source: BMC Pregnancy & Childbirth. 7/11/2024, Vol. 24 Issue 1, p1-12. 12p.

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Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center.

• Authors : Yan S; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, 510620, China.; Yu Q

Subjects: Cleft Lip*/Cleft Lip*/Cleft Lip*/genetics ; Cleft Lip*/Cleft Lip*/Cleft Lip*/diagnostic imaging ; DNA Copy Number Variations*

• Source: Italian journal of pediatrics [Ital J Pediatr] 2024 Aug 21; Vol. 50 (1), pp. 152. Date of Electronic Publication: 2024 Aug 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.

• Authors : Di Iorio E; Department of Molecular Medicine, University of Padova, 35121, Padova, Italy.; Clinical Genetics Unit, Azienda Ospedaliero Universitaria di Padova, 35121, Padova, Italy.

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Pedigree* ; Eye Proteins*/Eye Proteins*/Eye Proteins*/genetics

• Source: Scientific reports [Sci Rep] 2024 Aug 10; Vol. 14 (1), pp. 18580. Date of Electronic Publication: 2024 Aug 10.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Comprehensive analysis of flavohemoprotein copy number variation in Giardia intestinalis: exploring links to metronidazole resistance.

• Authors : Korenková V; Institute of Immunology and Microbiology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic. .; Weisz F

Subjects: Giardia lamblia*/Giardia lamblia*/Giardia lamblia*/genetics ; Giardia lamblia*/Giardia lamblia*/Giardia lamblia*/drug effects ; DNA Copy Number Variations*

• Source: Parasites & vectors [Parasit Vectors] 2024 Aug 10; Vol. 17 (1), pp. 336. Date of Electronic Publication: 2024 Aug 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101462774 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-3305

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