نتایج جستجو برای: nonsyndromic
تعداد نتایج: 1750 فیلتر نتایج به سال:
Cleft lip with or without palate (CL±P) is common congenital anomalies in humans. Experimental evidence has demonstrated that bone morphogenetic protein 4 gene (Bmp4) is involved in the etiology of CL±P in animal models. The nonsynonymous polymorphism rs17563 T>C (p.V152A) in the BMP4 gene has been associated to the risk of nonsyndromic CL±P in Chinese population and microforms from different e...
OBJECTIVES/HYPOTHESIS To investigate the utility of a brain magnetic resonance imaging (MRI) in children with sleep-disordered breathing (SDB), classified as isolated obstructive sleep apnea (OSA) in the absence of adenotonsillar hypertrophy, persistent OSA following adenotonsillectomy, isolated central sleep apnea (CSA) of unclear etiology, OSA with coexisting CSA of unclear etiology, or unexp...
Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with ...
Many mechanisms underlying normal and abnormal craniofacial embryogenesis are well understood. The genetic factors that provoke abnormal development and result in orofacial clefts are not clear, but much progress has occurred in our understanding. Genes or chromosomal rearrangements on many chromosomes can lead to syndromes that include orofacial clefts. This diversity in the mechanisms that ca...
Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.
Birth defects are a leading cause of infant morbidity and mortality worldwide. The vast majority of birth defects are nonsyndromic, and although their etiologies remain mostly unknown, evidence supports the hypothesis that they result from the complex interaction of genetic, epigenetic, environmental, and lifestyle factors. Since our last review published in 2002 describing the basic tools of g...
OBJECTIVE The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China. METHODS We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then ...
BACKGROUND Although the prevalence of oral clefts in China is among the highest in countries worldwide, little is known about its descriptive epidemiology. METHODS Data used in this study were collected from 1996 to 2005 using the nationwide hospital-based registry, the Chinese Birth Defects Monitoring Network. A total of 4,891,472 newborns (live or still births with 28 weeks of gestation or ...
AIM The aims of this report are to present a case of nonsyndromic multiple supernumerary teeth and a discussion of the value of three-dimensional computerized tomography (3D CT) for precise radiographic imaging of the anomaly. BACKGROUND Multiple supernumerary teeth without any associated syndromes are very rare. Exact radiographic presentations with an associated diagnosis of nonsyndromic mu...
OBJECTIVE Craniosynostosis is a premature fusion of 1 or more cranial sutures. It may occur with additional morphological abnormalities (syndromic) or in isolation. Studies suggest that dysregulation of normal cell proliferation, differentiation, and migration has a role in isolated or nonsyndromic craniosynostosis but the molecular mechanisms remain unknown. The aim of this research is to iden...
INTRODUCTION Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss. OBJECTIVE The purpose of our study was to investigate the incidence of these mitochondrial DNA mutations in such population. ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید