نتایج جستجو برای: cerebral dysgenesis
تعداد نتایج: 184386 فیلتر نتایج به سال:
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infan...
P strains of Drosophila are distinguished from M strains by having P elements in their genomes and also by having the P cytotype, a maternally inherited condition that strongly represses P-element-induced hybrid dysgenesis. The P cytotype is associated with P elements inserted near the left telomere of the X chromosome. Repression by the telomeric P elements TP5 and TP6 is significantly enhance...
AIM To analyze the relationship between autosomal aberrations and testicular dysgenesis or spermatogenic arrest in Chinese patients and to map the corresponding regions on each autosome in regard to the recorded aberrations accompanying these distubances. METHODS One hundred and nineteen cases of aberrant karyotypes with testicular dysgenesis, azoospermia or oligozoospermia reported in five C...
Hybrid dysgenesis is a sterility syndrome resulting from the mobilization of certain transposable elements in the Drosophila germline. Particularly extreme is the hybrid dysgenesis syndrome caused by P-element DNA transposons, in which dysgenic female ovaries often contain few or no germline cells. Those offspring that are produced from dysgenic germlines exhibit high rates of de novo mutation ...
SOX9 haploinsufficiency underlies campomelic dysplasia (CD) with or without testicular dysgenesis. Current understanding of the phenotypic variability and mutation spectrum of SOX9 abnormalities remains fragmentary. Here, we report three patients with hitherto unreported SOX9 abnormalities. These patients were identified through molecular analysis of 33 patients with 46,XY disorders of sex deve...
Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically ...
The occurrence from birth of copious lacrimation on eating in some patients with Duane's syndrome suggests that both are caused by dysgenesis or a lesion in the vicinity of the abducens nucleus in the pons.
Introduction: In 1995, the World Health Organization (WHO) estimated that there were 37.1 million blind people worldwide. It has subsequently been reported that 110 million people have severely impaired vision, hence are at great risk of becoming blind. Watkins predicted an annual increase of about two million blind worldwide. This study was designed to investigate the causes of blindness and l...
The Forkhead transcription factor FOXG1 is a prerequisite for telencephalon development in mammals and an essential controlling expansion of the dorsal by promoting neuron interneuron production. Heterozygous gene mutations cause syndrome characterized severe intellectual disability, motor delay, dyskinetic movements epilepsy. Neuroimaging studies patients disclose constant features including m...
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