Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
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DOI: 10.1001/jamanetworkopen.2019.20415
Abstract: This cohort study assesses whether copy number variations are associated with specific phenotypes in patients with germline PTEN mutations. read more here.
Keywords: copy number; number variation; patients germline; pten mutations ... See more keywords
Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma
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DOI: 10.1001/jamaophthalmol.2017.4097
Abstract: Importance Retinoblastoma (Rb) is one of the first tumors to have a known genetic etiology. However, because biopsy of this tumor is contraindicated, it has not been possible to define the effects of secondary genetic… read more here.
Keywords: copy number; dna; aqueous humor; tumor derived ... See more keywords
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples
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DOI: 10.1001/jamapsychiatry.2018.0039
Abstract: Importance; Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because… read more here.
Keywords: copy number; study; effect; cnvs ... See more keywords
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
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DOI: 10.1001/jamapsychiatry.2020.2159
Abstract: This cohort study evaluates the suitability of including pathogenic copy number variants associated with neuropsychiatric disorders in population screening by determining their prevalence and penetrance and exploring the personal utility of disclosing results. read more here.
Keywords: neuropsychiatric copy; number variants; copy number; identification neuropsychiatric ... See more keywords
Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders.
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DOI: 10.1001/jamapsychiatry.2021.3392
Abstract: Importance Although the association between several recurrent genomic copy number variants (CNVs) and mental disorders has been studied for more than a decade, unbiased, population-based estimates of the prevalence, disease risks and trajectories, fertility, and… read more here.
Keywords: copy number; risk; disorder; case ... See more keywords
Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Human Biology"
DOI: 10.1002/ajhb.23192
Abstract: Genetic variation of the fat mass and obesity associated gene (FTO) has been identified as a risk factor for obesity and obesity traits. Distribution of FTO single nutleotide polymorphisms (SNPs) rs1421085T>C, rs9939609T>A, rs8057044G>A and copy… read more here.
Keywords: obesity overweight; copy number; variation; obesity ... See more keywords
Atypical neural variability in carriers of 16p11.2 copy number variants
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DOI: 10.1002/aur.2166
Abstract: Copy number variations (CNVs) at the 16p11.2 chromosomal region are associated with myriad clinical features including intellectual disability and autism spectrum disorder. The aim of this study is to determine whether 16p11.2 deletion (DEL) and… read more here.
Keywords: copy number; neural variability; power; variability ... See more keywords
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
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DOI: 10.1002/bdr2.1042
Abstract: BACKGROUND The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R),… read more here.
Keywords: copy number; vacterl like; vacterl vater; vater vacterl ... See more keywords
Chromosome copy number variants in fetuses with syndromic malformations
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DOI: 10.1002/bdr2.1054
Abstract: Chromosome copy number variants (CNVs; gains and losses of DNA sequences >1 kb) are wide‐spread throughout the genome of healthy individuals. Laboratory studies show that a subset of CNVs are pathogenic, and not only can be… read more here.
Keywords: copy number; syndromic malformations; fetuses syndromic; chromosome copy ... See more keywords
Copy number variation analysis of m6 A regulators identified METTL3 as a prognostic and immune-related biomarker in bladder cancer.
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DOI: 10.1002/cam4.3981
Abstract: PURPOSE Growing evidence has demonstrated an indispensable role for N6 -methyladenosine (m6 A) in human diseases, but the copy number variations (CNVs) of m6 A regulatory genes in bladder cancer (BLCA) remains largely unknown. METHODS… read more here.
Keywords: cancer; regulatory genes; copy number; bladder cancer ... See more keywords
Genome‐wide analysis of colorectal cancer based on gene‐based somatic copy number alterations during neoplastic progression within the same tumor
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DOI: 10.1002/cam4.5117
Abstract: The objective of this study was to elucidate the association between neoplastic progression and somatic copy number alterations (SCNAs) occurring within the same colorectal cancer (CRC) tumor. read more here.
Keywords: number alterations; somatic copy; neoplastic progression; colorectal cancer ... See more keywords