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Academic Journal

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

  • Authors : Andrews A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Maharaj A

Subjects: Body Height* ; Comparative Genomic Hybridization* ; DNA Copy Number Variations*

  • Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Oct 21; Vol. 106 (11), pp. e4716-e4733.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome.

  • Authors : Ye M; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.

Subjects: Body Mass Index* ; DNA Copy Number Variations* ; Sequence Deletion*

  • Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Jul 08; Vol. 12, pp. 675581. Date of Electronic Publication: 2021 Jul 08 (Print Publication: 2021).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print

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Academic Journal

Mitochondrial DNA copy number and trimethylamine levels in the blood: New insights on cardiovascular disease biomarkers.

  • Authors : Bordoni L; Unit of Molecular Biology and Nutrigenomics, School of Pharmacy, University of Camerino, Camerino, Italy.; Petracci I

Subjects: DNA Copy Number Variations*; Biomarkers/Biomarkers/Biomarkers/*blood ; Cardiovascular Diseases/Cardiovascular Diseases/Cardiovascular Diseases/*diagnosis

  • Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2021 Jul; Vol. 35 (7), pp. e21694.Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited

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Academic Journal

Analysis of Genetic Variants Associated with Levels of Immune Modulating Proteins for Impact on Alzheimer's Disease Risk Reveal a Potential Role for SIGLEC14.

  • Authors : Shaw BC; Department of Physiology, University of Kentucky, Lexington, KY 40506, USA.; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY 40506, USA.

Subjects: DNA Copy Number Variations* ; Genome-Wide Association Study* ; Polymorphism, Single Nucleotide*

  • Source: Genes [Genes (Basel)] 2021 Jun 30; Vol. 12 (7). Date of Electronic Publication: 2021 Jun 30.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Mitochondrial DNA Copy Number in Human Blastocyst: A Novel Biomarker for the Prediction of Implantation Potential.

  • Authors : Du S; Reproductive Center, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fu Zhou City, China.; Huang Z

Subjects: DNA Copy Number Variations* ; Embryo Implantation* ; Maternal Age*

  • Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2021 May; Vol. 23 (5), pp. 637-642. Date of Electronic Publication: 2021 Mar 01.Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.

  • Authors : Berberich AJ; Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address: .; Wang J

Subjects: DNA Copy Number Variations* ; Gene Deletion* ; Mutation*Mason-Type Diabetes

  • Source: Canadian journal of diabetes [Can J Diabetes] 2021 Feb; Vol. 45 (1), pp. 71-77. Date of Electronic Publication: 2020 Jun 08.Publisher: Canadian Diabetes Association Country of Publication: Canada NLM ID: 101148810 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Subjects: DNA Copy Number Variations* ; Mutation*; Biomarkers/Biomarkers/Biomarkers/*blood

  • Source: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2021 Jan 25; Vol. Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

APOE4 Copy Number-Dependent Proteomic Changes in the Cerebrospinal Fluid.

Subjects: Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/cerebrospinal fluid ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/genetics ; DNA Copy Number Variations*

  • Source: Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2021; Vol. 79 (2), pp. 511-530.Publisher: IOS Press Country of Publication: Netherlands NLM ID: 9814863 Publication Model: Print Cited Medium: Internet ISSN: 1875-8908

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Academic Journal

Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.

  • Authors : Chasseloup F; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.; Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Institut Cochin, INSERM U1016 CNRS 8104 Paris Descartes University, Paris, France.

Subjects: DNA Copy Number Variations* ; Germ-Line Mutation*; Biomarkers/Biomarkers/Biomarkers/*analysis Multiple Endocrine Neoplasia, Type IV

  • Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2020 Jun 01; Vol. 105 (6).Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Essential amino acid metabolism-related molecular classification in triple-negative breast cancer.

  • Authors : Zhao Y; Department of Breast, Affiliated Cancer Hospital of Zhengzhou University & Henan Cancer Hospital, Zhengzhou, 450000, China.; Pu C

Subjects: Biomarkers*; Amino Acids, Essential/Amino Acids, Essential/Amino Acids, Essential/*metabolism ; Triple Negative Breast Neoplasms/Triple Negative Breast Neoplasms/Triple Negative Breast Neoplasms/*metabolism

  • Source: Epigenomics [Epigenomics] 2021 Aug; Vol. 13 (16), pp. 1247-1268. Date of Electronic Publication: 2021 Aug 27.Publisher: Future Medicine Country of Publication: England NLM ID: 101519720 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  284 results for ""DNA copy number variations""