نتایج جستجو برای: globe dysgenesis
تعداد نتایج: 33196 فیلتر نتایج به سال:
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...
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly of female genital tract where there hypoplasia uterus and upper two- thirds vagina. Patients with MRHK present normal development secondary sexual characteristics due to ovarian function. We report 2 cases who presented absent ovaries confirmed on imaging. Both our MRKH had short stature underdeveloped characteristics. It ex...
To implement adaptive replication strategies for Web documents, we have developed a wide area resource management system. This system allows servers to be managed on a local and global level. On a local level the system manages information about the resources and services provided by the servers, while on a global level the system allows servers to be searched for, added to, and removed from th...
A n 83-year-old man with Type 2 diabetes mellitus, systemic hypertension, atrial fibrillation, and successfully treated prostate carcinoma (6 years prior to presentation) complained of progressive painful loss of vision in his left eye for 2 weeks. Examination revealed visual acuity of 20/20 in the right eye and no light perception in the left eye. The left pupil was amaurotic, and there was mi...
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