Results 191 to 200 of about 1,520,842 (344)

Comparison of Constitutional and Replication Stress-Induced Genome Structural Variation by SNP Array and Mate-Pair Sequencing [PDF]

open access: bronze, 2011
Martin F. Arlt   +5 more
openalex   +1 more source

Genetic Determinants of Fatty Acid Composition in Subcutaneous and Visceral Adipose Tissue

open access: yesObesity, EarlyView.
ABSTRACT Objective Fatty acids in adipose tissue are key structural and metabolic regulators of cardiometabolic health, but the genetic architecture governing depot‐specific composition in subcutaneous (SAT) and visceral adipose tissue (VAT) is not well defined.
Altayeb Ahmed   +8 more
wiley   +1 more source

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression

open access: yesThe Journal of Pathology, EarlyView.
Abstract Development of ipsilateral breast carcinoma following a diagnosis of breast ductal carcinoma in situ (DCIS) has been assumed to represent recurrence of the primary tumour. However, this may not always be the case, and it is important to determine how often such recurrences represent new tumours.
Tanjina Kader   +32 more
wiley   +1 more source

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping

open access: bronze, 2008
Frank Jacobi   +7 more
openalex   +2 more sources

SNP array–based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes [PDF]

open access: bronze, 2011
Manuel Afable   +8 more
openalex   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin   +11 more
wiley   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang   +21 more
wiley   +1 more source

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