Results 151 to 160 of about 99,978 (325)

Mitotic antipairing of homologous and sex chromosomes via spatial restriction of two haploid sets. [PDF]

open access: yes, 2018
Pairing homologous chromosomes is required for recombination. However, in nonmeiotic stages it can lead to detrimental consequences, such as allelic misregulation and genome instability, and is rare in human somatic cells.
Hua, Lisa L, Mikawa, Takashi
core   +1 more source

Sperm Telomere Interactions Are Impaired in Testicular Cancer Before and After Adjuvant Therapy

open access: yesAndrology, EarlyView.
ABSTRACT Background No study has yet explored telomere length or interaction in sperm nuclei of testicular cancer (TC) patients exposed to chemotherapy or radiotherapy. However, sperm telomere dynamics have emerged as a potential marker in male infertility.
Benoit Berby   +10 more
wiley   +1 more source

False Positive or False Negative-An Interesting Case in Prenatal Diagnostic Laboratory. [PDF]

open access: yesJ Clin Lab Anal
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Zhang P   +5 more
europepmc   +2 more sources

Unconventional kinetochore kinases KKT2 and KKT3 have unique centromere localization domains [PDF]

open access: gold, 2019
Gabriele Marcianò   +3 more
openalex   +1 more source

Centromere-Specifying Nucleosomes Persist in Aging Mouse Oocytes in the Absence of Nascent Assembly

open access: green, 2023
Arunika Das   +5 more
openalex   +1 more source

Immunohistochemistry as a tool for identifying EGFR amplification in CNS tumors

open access: yesBrain Pathology, EarlyView.
EGFR gene amplification constitutes a diagnostic hallmark for glioblastoma, IDH‐wildtype (GB, IDH‐WT). Herein, we demonstrated that EGFR IHC is a highly specific and sensitive biomarker for identifying EGFR amplification and should be part of the neuropathologist's routine panel of antibodies.
Arnault Tauziède‐Espariat   +12 more
wiley   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

open access: yesClinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson   +22 more
wiley   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

open access: yesClinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata   +3 more
wiley   +1 more source

Hsk1- and SCFPof3-Dependent Proteolysis of S. pombe Ams2 Ensures Histone Homeostasis and Centromere Function

open access: green, 2010
Yuko Takayama   +7 more
openalex   +1 more source

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