نتایج جستجو برای: genetic abnormalities
تعداد نتایج: 704179 فیلتر نتایج به سال:
BACKGROUND Somatic genetic CDKN2A, TP53, and DNA content abnormalities are common in many human cancers and their precursors, including esophageal adenocarcinoma (EA) and Barrett's esophagus (BE), conditions for which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) have been proposed as possible chemopreventive agents; however, little is known about the ability of a biomarker pa...
humanembryo is the honorable extant. according to islamic sources such as: quran, tradition, ijma and wisdom,destroyingembryosasthe first verdict is prohibited.in this research, was conducted with descriptiveand analyticalmethods this question wasstudied thatif genetic abnormalitiesexist in the fetusso that medicallyto live pregnant impossibl eafter the birth and cause threatenfor live of mothe...
purpose: surgeons performing an ilioinguinal exposure for acetabular fracture surgery need to be aware of aberrant findings such as inguinal hernias and spermatic cord lesions. the purpose of this study is to report these occurrences in a clinical series of adult males undergoing acetabular fracture fixation and a series of adult male cadavers. the secondary aim is to characterize these abnorma...
background and aims: congenital anomalies are as the major causes of stillbirths, neonatal death, disability and childhood health problems all over the world. the aim of this study was to determine the incidence and pattern of congenital anomalies in newborn during the first 24 hours of life in shahid-madani hospital, azarshahr, tabriz, during two periods 2002-2003 and 2012-2013 years. methods:...
Background: Netherton syndrome is a rare autosomal recessive disorder consisting of ichthyosiform dermatosis, hair shaft abnormalities and an atopic diathesis that presents as widespread erythematous skin. The aim of these reports is emphasis on the importance of the examination of hair as a diagnose route. Case presentation: Case 1: A 6 months old boy with respiratory distress and severe eryth...
PURPOSE To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. MATERIALS AND METHODS Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine....
Rubinstein Taybi syndrome is a rare genetic abnormality that includes such features as facial abnormalities, broad thumbs on the hands and feet, small stature, and developmental delay (including fine and gross motor, communication, problem solving, personal-social delays). This case report represents a 12 months old male baby, was referred for his Developmental Delay, and after investigations a...
Because autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic abnormalities seen in today's medical practice, many internists will likely treat patients affected by this condition. Genetic abnormalities have been increasingly recognized, and the pathophysiology of the disease is beginning to be unraveled. Because of advances in imaging technology, surrogate mark...
Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological pheno...
OBJECTIVE About 15% of clinically recognized pregnancies result in spontaneous abortion in the first trimester and the vast majority of these are the result of chromosome abnormalities. Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of the abortions have an abnormal karyotype. In this study we aimed to report the single centre exper...
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