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Academic Journal

The role of copy number variants in the genetic architecture of common familial epilepsies.

Authors : Almanza Fuerte, Edith P. (AUTHOR); Nguyen, John (AUTHOR); Mehaffey, Michelle (AUTHOR)

Subjects: EPILEPSY; DNA copy number variations; CHROMOSOME duplication

Source: Epilepsia (Series 4). Mar2024, Vol. 65 Issue 3, p792-804. 13p.

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Academic Journal

Genetics in schizophrenia: where are we and what next?

Authors : Tiwari AK; Neurogenetics section, Neuroscience department, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Zai CC

Subjects: Genetics*; DNA Copy Number Variations/DNA Copy Number Variations/DNA Copy Number Variations/*genetics ; Schizophrenia/Schizophrenia/Schizophrenia/*diagnosis

Source: Dialogues in clinical neuroscience [Dialogues Clin Neurosci] 2010; Vol. 12 (3), pp. 289-303.Publisher: Taylor & Francis Country of Publication: England NLM ID: 101238198 Publication Model: Print Cited Medium: Print ISSN: 1294-8322

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Academic Journal

Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.

Authors : Butter, Charlotte E.; Goldie, Caitlin L.; Hall, Jessica H.

Subjects: PARENT attitudes; THEMATIC analysis; DNA copy number variationsUNITED Kingdom

Source: BMC Psychology; 3/12/2024, Vol. 12 Issue 1, p1-11, 11p

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Academic Journal

Polyhydramnios associated with rare genetic syndromes: two case reports.

Authors : Lim, C. W. C.; Lustestica, I. E.; Poon, W. B.

Subjects: POLYHYDRAMNIOS; PREMATURE labor; DNA copy number variations

Source: Journal of Medical Case Reports; 2/19/2024, Vol. 18 Issue 1, p1-6, 6p

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Academic Journal

Chromosomal Duplication Syndromes: A Case Series.

Authors : Panigrahi, Inusha¹ (AUTHOR); Shariq, Mohammed¹ (AUTHOR); Bamba, Chitra¹ (AUTHOR)

Subjects: *DNA copy number variations; *INTELLECTUAL disabilities; *SYNDROMES

Source: Neurology India. Jan/Feb2024, Vol. 72 Issue 1, p124-128. 5p.

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Academic Journal

Experience of copy number variation sequencing applied in spontaneous abortion.

Authors : Dai, Yi-Fang; Wu, Xiao-Qing; Huang, Hai-Long

Subjects: MISCARRIAGE; MATERNAL age; DNA copy number variations

Source: BMC Medical Genomics; 1/8/2024, Vol. 17 Issue 1, p1-9, 9p

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Academic Journal

Genetic and Epigenetic Characteristics in Isolated Pancreatic Metastases of Clear-Cell Renal Cell Carcinoma.

Authors : Sellner, Franz; Compérat, Eva; Klimpfinger, Martin

Subjects: RENAL cell carcinoma; DNA copy number variations; EPIGENETICS

Source: International Journal of Molecular Sciences; Nov2023, Vol. 24 Issue 22, p16292, 18p

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Academic Journal

Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study.

Authors : Martucci, M.; Novelli, M.; Scarselli, V.

Subjects: AUTISM spectrum disorders in children; ELECTROENCEPHALOGRAPHY; DNA copy number variations

Source: Clinica Terapeutica; Nov/Dec2023, Vol. 174 Issue 6, p509-517, 9p

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Academic Journal

Spontaneous cervical artery dissection: is it really a connective tissue disease? A comprehensive review.

Authors : Gunduz, Muhammed Enes; Kadirvel, Ramanathan; Kallmes, David F.

Subjects: CONNECTIVE tissue diseases; DNA copy number variations; CONNECTIVE tissues

Source: Frontiers in Neurology; 2023, p1-8, 8p

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Academic Journal

Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas.

Authors : Kaulen, Leon D.; Denisova, Evgeniya; Hinz, Felix

Subjects: SINGLE nucleotide polymorphisms; REGULATORY T cells; DNA copy number variations

Source: Acta Neuropathologica; Sep2023, Vol. 146 Issue 3, p499-514, 16p

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