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Chromosomal evolution of Suboscines: Karyotype diversity and evolutionary trends in Ovenbirds (Passeriformes, Furnariidae)
Chromosomal evolution of Suboscines: Karyotype diversity and evolutionary trends in Ovenbirds (Passeriformes, Furnariidae)
Furnariidae (Ovenbirds) is one of the most diversified families in the Passeriformes order and Suboscines suborder. Despit...
SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts
SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts
Transcription of SHOX is dependent upon the interaction of the gene with a complex array of flanking regulatory elements. ...
Effect of age and sex on gene expression-based radiation biodosimetry using mouse peripheral blood
Effect of age and sex on gene expression-based radiation biodosimetry using mouse peripheral blood
Blood-based gene expression profiles that can reconstruct radiation exposure are being developed as a practical approach t...
Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China
Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China
Fetal cystic hygroma (CH) is associated with poor prognosis and chromosomal anomalies. Recent studies have suggested that ...
Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing
Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing
Chromosomal abnormalities are a common cause of spontaneous abortions, but conventional detection methods (karyotype, FISH...
Shugoshin Regulates Cohesin, Kinetochore-Microtubule Attachments, and Chromosomal Instability
Shugoshin Regulates Cohesin, Kinetochore-Microtubule Attachments, and Chromosomal Instability
Correct regulation of cohesin at chromosome arms and centromeres and accurate kinetochore-microtubule connections are sign...
Patient with Mosaic Turner Syndrome and a Derivative X Chromosome with a Variant Triple X Diagnosis in Fetus: a Case Report
Patient with Mosaic Turner Syndrome and a Derivative X Chromosome with a Variant Triple X Diagnosis in Fetus: a Case Report
Although Turner syndrome is most often sporadic, multigenerational recurrence has been reported more often in the offsprin...
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
Neurodevelopmental syndromes due to copy number variation are well-known clinical entities. While the numerical variation ...
Transcriptional Analysis of Microsatellites in Velvetbean Caterpillar Anticarsia gemmatalis Hübner, 1818
Transcriptional Analysis of Microsatellites in Velvetbean Caterpillar Anticarsia gemmatalis Hübner, 1818
Brazil is the largest producer of soybeans in the world. The vast extent of soybean plantations across the Brazilian terri...
Improved Basic Cytogenetics Challenges Holocentricity of Butterfly Chromosomes
Improved Basic Cytogenetics Challenges Holocentricity of Butterfly Chromosomes
Mitotic chromosomes of butterflies, which look like dots or short filaments in most published data, are generally consider...
Nucleotide Sequence and Chromosome mapping of 5S Ribosomal DNA from the Dojo Loach, Misgurnus anguillicaudatus
Nucleotide Sequence and Chromosome mapping of 5S Ribosomal DNA from the Dojo Loach, Misgurnus anguillicaudatus
There are 2 genetically divergent groups in the dojo loach Misgurnus anguillicaudatus: A and B. Although most wild-type di...
Somatic variants and exon-level copy number changes in five hyperplastic-stage oral leukoplakias.
Somatic variants and exon-level copy number changes in five hyperplastic-stage oral leukoplakias.
Oral leukoplakia (OL), an oral potentially malignant disorder begins with a hyperplastic/hyperkeratotic stage at which no ...
EPILEPTIC ENCEPHALOPATHY WITH VARIANTS IN THE PHACTR1 AND AFF2 GENES: A CASE REPORT
EPILEPTIC ENCEPHALOPATHY WITH VARIANTS IN THE PHACTR1 AND AFF2 GENES: A CASE REPORT
Developmental and epileptic encephalopathy 70 (DEE70) is an epileptic encephalopathy associated with multiple neurological...
Intersexual Twins due to Tetragametic Chimerism
Intersexual Twins due to Tetragametic Chimerism
Disorders of or differences in sexual development (DSD) are defined by congenital conditions in which development of chrom...
Genotype-Phenotype Correlation of Distal 2q37 Deletions
Genotype-Phenotype Correlation of Distal 2q37 Deletions
Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (>2–9 Mb) in distal 2q37. Haplo...
B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21
B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21
Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular marker...
Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions
Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions
We report a patient presenting with neurodevelopmental disorder, cleft palate, micrognathia, relatively mild microcephaly ...
Ionizing Radiation-Induced DNA Damage Response in Primary Melanocytes and Keratinocytes of Human Skin
Ionizing Radiation-Induced DNA Damage Response in Primary Melanocytes and Keratinocytes of Human Skin
Currently, our knowledge of how different cell types in a tissue microenvironment respond to low and high linear energy tr...