نتایج جستجو برای: dysgenesis
تعداد نتایج: 2586 فیلتر نتایج به سال:
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...
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...
The MR imaging findings in two patients with the clinical diagnosis of oculomotor apraxia are presented. Both cases showed dysgenesis of the cerebellar vermis, and the colliculi were fused in one patient. No supratentorial abnormalities were seen in either patient.
The patient was a 11%-month-old white female infant, whose mother was gravida III, para III. The pregnancy was entirely normal, with no virus infections or irradiation during the first trimester. The patient had edema of the dorsa of the hands and feet at birth. When she was first seen at 23 months the edema of the hands had subsided and the skin was very lax. The dorsa of the feet still exhibi...
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