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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...
A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings
A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings
Complex chromosomal rearrangements (CCRs) have been described as alterations between two or more chromosomes with at least...
Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals
Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals
Abortion is a common pregnancy complication. Fetuses with several types of chromosomal abnormalities are aborted during th...
Cytogenetic analysis of the fungus-farming ant Cyphomyrmex rimosus (Spinola, 1851) (Formicidae: Myrmicinae: Attini) highlights karyotypic variation
Cytogenetic analysis of the fungus-farming ant Cyphomyrmex rimosus (Spinola, 1851) (Formicidae: Myrmicinae: Attini) highlights karyotypic variation
The fungus-farming ant genus Cyphomyrmex (subtribe Attina, clade Neoattina) comprises 23 described species that are widely...
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...
Cytogenetic Abnormalities in Multiple Myeloma: Incidence, prognostic significance and geographic heterogeneity in Indian and western population.
Cytogenetic Abnormalities in Multiple Myeloma: Incidence, prognostic significance and geographic heterogeneity in Indian and western population.
Multiple Myeloma(MM) is genetically complex and heterogeneous neoplasm in which cytogenetics is major genetic factor which...
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 ...
Molecular and Chromosomal Evolution of DsTc1_5 and DsPogo_8 Elements (Tc1-Mariner) in Species of the Dichotomius Genus (Coleoptera: Scarabaeidae): Contributions to the Speciation Process
Molecular and Chromosomal Evolution of DsTc1_5 and DsPogo_8 Elements (Tc1-Mariner) in Species of the Dichotomius Genus (Coleoptera: Scarabaeidae): Contributions to the Speciation Process
In <i>Dichotomius</i> genus, transposable elements (TE) have been related to chromosome remodeling, genomic ev...
Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases
Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases
Acute promyelocytic leukemia (APL) is characterized by the chromosomal translocation t(15;17)(q24;q21), raising two hybrid...
Confirmation of Natural Hybridization between Kengyilia (StStYYPP) and Campeiostachys (StStYYHH) (Triticeae: Poaceae) Based on Morphological and Molecular Cytogenetic Analyses
Confirmation of Natural Hybridization between Kengyilia (StStYYPP) and Campeiostachys (StStYYHH) (Triticeae: Poaceae) Based on Morphological and Molecular Cytogenetic Analyses
Natural hybridization has been frequently observed in Triticeae; however, few studies have investigated the origin of natu...
Fourth Report on Chicken Genes and Chromosomes 2022
Fourth Report on Chicken Genes and Chromosomes 2022
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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 ...
Molecular Cytogenetic Characterization of C-Band-Positive Heterochromatin of the Greater Long-Tailed Hamster (Tscherskia triton, Cricetinae)
Molecular Cytogenetic Characterization of C-Band-Positive Heterochromatin of the Greater Long-Tailed Hamster (Tscherskia triton, Cricetinae)
The greater long-tailed hamster (<i>Tscherskia triton</i>, Cricetinae) has a unique karyotype (2n = 28), conta...
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...
Identification of key genes from the visceral adipose tissues of overweight/obese adults with hypertension through transcriptome sequencing
Identification of key genes from the visceral adipose tissues of overweight/obese adults with hypertension through transcriptome sequencing
Overweight and obese (OW/OB) adults are at increased risk of hypertension due to visceral adipose tissue (VAT) inflammatio...
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...
Comparative Studies of Karyotypes in the Cervidae Family
Comparative Studies of Karyotypes in the Cervidae Family
The family Cervidae is the second most diverse family in the infraorder Pecora and is characterized by a striking variabil...
scRepli-Seq: A Powerful Tool to Study Replication Timing and Genome Instability
scRepli-Seq: A Powerful Tool to Study Replication Timing and Genome Instability
Advances in “omics” technology have made it possible to study a wide range of cellular phenomena at the single-cell level....
Tracking Chromosomal Origins in the Northern Italy System of Metacentric Races of the House Mouse
Tracking Chromosomal Origins in the Northern Italy System of Metacentric Races of the House Mouse
The Western European house mouse is chromosomally diverse, with diploid karyotypes ranging from the standard 40 telocentri...
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