نتایج جستجو برای: nonsyndromic
تعداد نتایج: 1750 فیلتر نتایج به سال:
Purpose To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC. Methods Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confir...
BACKGROUND Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants in IRF6 in orofacial clefts cohorts f...
OBJECTIVE Genetic syndromes occur in more than 20% of patients with conotruncal heart defects. We investigated the impact of genetic syndromes on the surgical outcome of conotruncal anomalies in infancy. METHODS This retrospective study reviews the outcome of 787 patients (median age 6.3 months) who underwent primary (598) or staged (189) repair of a conotruncal defect between 1992 and 2007. ...
Dentigeröz kistler; radiküler kistlerden sonra çenelerin en sık görülen odontojenik kistleridir. Özellikle mandibular 3. molar dişler ile ilişkilidir. kistler sıklıkla semptomsuz seyreder ve rutin radyografik tetkiklerde teşhis edilebilmektedirler. Radyografik olarak gömük ilişkilidir iyi, sklerotik sınırları olan radyolüsent bir görüntü vermektedirler. Bilateral multipl dentigeröz nadir görülü...
PURPOSE Nonsyndromic retinitis pigmentosa (RP) is the most common inherited retinal degeneration, and prevalence of the disease has been reported in populations of American and European origin with a relatively low consanguinity rate. Our aim was to determine the prevalence of nonsyndromic RP in the Jerusalem region, which has a population of about 1 million individuals with a high rate of cons...
Commentary The study by Berg et al. presents the risk and risk factors for complete remission in children without electroclinical syndromes, developmental encephalopathies, and potential electroclinical syndromes that could not be well classified who were observed for at least 10 years. Such nonsyndromic epilepsy represents almost 60% of childhood-onset epilepsy. Taking this interesting approac...
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