11 Complete molecular analysis of the CFTR gene in congenital absence of the vas deferens
نویسندگان
چکیده
منابع مشابه
CFTR Mutations in Congenital Absence of Vas Deferens
A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...
متن کاملMutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.
BACKGROUND Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown. METHODS We investigated 51 Turkish males who had been diagnosed with CBAVD at the Hacettepe Universi...
متن کاملStructural analysis of CFTR gene in congenital bilateral absence of vas deferens.
Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G ...
متن کامل[Congenital unilateral absence of the vas deferens].
A 10-year-old boy with cystic fibrosis (CF) (DeltaF508/G551D mutation) underwent an uneventful elective interval laparoscopic appendectomy. During routine laparoscopic inspection of the abdomen and groins, congenital bilateral absence of the vas deferens was noted. Pictures of the patient's internal inguinal ring noted at time of laparoscopy are presented and compared with a similar-aged patien...
متن کاملthe analysis of the role of the speech acts theory in translating and dubbing hollywood films
از محوری ترین اثراتی که یک فیلم سینمایی ایجاد می کند دیالوگ هایی است که هنرپیش گان فیلم میگویند. به زعم یک فیلم ساز, یک شیوه متأثر نمودن مخاطب از اثر منظوره نیروی گفتارهای گوینده, مثل نیروی عاطفی, ترس آور, غم انگیز, هیجان انگیز و غیره, است. این مطالعه به بررسی این مسأله مبادرت کرده است که آیا نیروی فراگفتاری هنرپیش گان به مثابه ی اعمال گفتاری در پنج فیلم هالیوودی در نسخه های دوبله شده باز تولید...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2006
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(06)80012-3