Results 21 to 30 of about 3,549,870 (295)
BMC Pregnancy and Childbirth, 2022 Background Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period.
Xinyue Meng, Lili Jiang
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Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]
, 2020 Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena +6 more
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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]
, 2018 Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T +7 more
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Copy Number Variation and Osteoporosis
Current Osteoporosis Reports, 2023 Abstract Purpose of Review The purpose of this review is to summarize recent findings on copy number variations and susceptibility to osteoporosis. Recent Findings Osteoporosis is highly influenced by genetic factors, including copy number variations (CNVs).
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Human gene copy number spectra analysis in congenital heart malformations [PDF]
, 2012 The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P. +13 more
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Copy Number Variation Disorders [PDF]
Current Genetic Medicine Reports, 2017 Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively ...
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Copy Number Variants in Epileptic Encephalopathy
Pediatric Neurology Briefs, 2012 An international group of investigators at University of Washington, Seattle, USA, and various centers in Australia, New Zealand, Canada, and Israel evaluated 315 patients with epileptic encephalopathies for rare copy number variants (CNVs) using a whole-
J Gordon Millichap
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Extensive Copy-Number Variation of Young Genes across Stickleback Populations [PDF]
, 2014 MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1).
A Abyzov +101 more
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Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]
, 2016 Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D. +11 more
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aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations. [PDF]
PLoS ONE, 2017 Copy number variations (CNV) include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH) events which do not induce any net change in the copy number and are often associated with ...
Victor Renault +8 more
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