نتایج جستجو برای: large deletions
تعداد نتایج: 1045700 فیلتر نتایج به سال:
It is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the Y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (AZF) in Yq 11.23. However, it is not known whether Yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (o...
Linear energy transfer (LET) is an important parameter for ion beam mutagenesis. We irradiated rice seeds with carbon ions (LET: 23, 30, 50, or 57 keV µm−1), neon 63 70 argon 290 µm−1). subsequently isolated 56 mutants and analyzed the mutations in responsible genes mutant phenotypes to evaluate effects of different LETs rice. Mutations were classified as single nucleotide variants, small delet...
UNLABELLED Protein S deficiency is an autosomal dominant disorder that results from mutations in the PROS1 gene. Conventional mutation detection techniques fail to detect a pathogenic PROS1 mutation in approximately 50% of cases. The present study investigates whether large deletions of PROS1 are found in families where mutations in the PROS1 gene have not been found despite sequencing. For thi...
In recent years, the majority of additions to and deletions from S&P 500 index have been stocks that were previously or subsequently included in 400 index. The announcement returns these changes opposite what has documented for all an extensive literature. During 2016–2020, such ‘upward additions’ resulted average excess return -2.48% over a three-day period while ‘downward deletions’ +1.37%. W...
Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...
Purpose Familial exudative vitreoretinopathy (FEVR) is a rare, hereditary visual disorder. The gene TSPAN12 is associated with autosomal dominant inheritance of FEVR. The prevalence and impact of large deletions/duplications of TSPAN12 on FEVR patients is unknown. To glean better insight of TSPAN12 on FEVR pathology, herein, we describe three FEVR patients with TSPAN12 deletions. Methods Thir...
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