نتایج جستجو برای: autosomal recessive trait

تعداد نتایج: 117581  

ژورنال: پژوهش در پزشکی 2012
نوری رحمت‌آبادی, نگار, کاظمی, زهره ,

Abstract Background: Harlequin ichthyosis is a fatal and extremely rare disorder it is an inborn error of epidermal keratinisation with autosomal recessive inheritance. In most cases, neonates die within a few days after birth. Case presentation: We describe a male term infant born from a 32 years old woman with odd looking, clown like face. The skin was composed of rigid fixed plaques sep...

Journal: :Journal of pediatric ophthalmology and strabismus 2013
Purva Bende Krupa Natarajan Thennarasu Marudhamuthu Jagadeesan Madhavan

PURPOSE To predict the progression to legal blindness in patients with isolated inherited retinitis pigmentosa. METHODS This retrospective study evaluated patients with isolated inherited retinitis pigmentosa for age at onset, duration of the disease, and best-corrected visual acuity in an Asian Indian cohort. The Mann–Whitney U test was used to analyze the variables. RESULTS Of 134 patient...

Journal: :The Journal of heredity 1997
M H Thorne F W Nicholas C Moran B L Sheldon

We investigated the pattern of inheritance of maternal meiotic errors responsible for a high frequency of triploid progeny in a selected line of chickens. For the genetic analysis, F1 and backcross populations were produced from crosses between normal diploid individuals of the triploidy line and a control line. Triploid embryos were produced by 35% and 67% of reciprocal F1 females and by 24% a...

Journal: :مجله دانشگاه علوم پزشکی شهید صدوقی یزد 0
مهدی مغنی باشی m moghannibashi حسین خدایی h khodaie مرتضی سیفتی m seifati محمود میراب m mirab کیمیا کهریزی k kahrizi یاسر ریاض الحسینی y riazzalhoseini عاطفه دهقانی

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...

Journal: :iranian journal of public health 0
marjan masoudi najmeh ahangari ali akbar poursadegh zonouzi ahmad poursadegh zonouzi *azim nejatizadeh

background: autosomal recessive non-syndromic hearing loss (arnshl) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. so far, more than seventy various dfnb loci have been mapped for arnshl by linkage analysis. the contribution of three common dfnb loci including dfnb3, dfnb9, dfnb21 and gap junction beta-2 (gjb2) gene mutations in arnshl was in...

Journal: :Journal of the Royal Society of Medicine 1983

Journal: :Indian Journal of Ophthalmology 2020

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