نتایج جستجو برای: igvh mutation

تعداد نتایج: 291497  

Journal: :Haematologica 2005
Marco Montillo Terry Hamblin Michael Hallek Emili Montserrat Enrica Morra

BACKGROUND AND OBJECTIVES Many years ago it was established that prompt treatment of early stage chronic lymphocytic leukemia (CLL), the stage at which almost two-thirds of CLL patients present, has no benefit over a management of watching and waiting, then treating progression. However, this fact was based on series treated ineffectually with chlorambucil, which were not stratified according t...

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi-fakhim department of pediatric otorhinolaryngology, children’s hospital, tabriz university of medical sciences, tabriz, iran. mehrdad asghari estiar department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran. parizad varghaei faculty of medicine, tabriz university of medical sciences, tabriz, iran mahdi alizadeh sharafi tabriz genetic analysis center (tgac), tabriz university of medical sciences, tabriz, iran. masoud sakhinia faculty of medicine, university of liverpool, liverpool, united kingdom. ebrahim sakhinia tuberculosis and lung disease research center, tabriz university of medical sciences, tabriz, iran.

introduction: cleft lips and cleft palates are common congenital abnormalities in children. various chromosomal loci have been suggested to be responsible the development of these abnormalities. the present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [mthfr] a1298c and c677t) that might contribute into the etiology of the...

Hassan Dastsooz, Majid Fardaei, Nazanin Vahedi

Objective(s):  Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...

2013
Aleksandra Butrym Miroslaw Majewski Justyna Dzietczenia Kazimierz Kuliczkowski Grzegorz Mazur

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults in Western countries. It is characterized by heterogeneous clinical course of the disease and new prognostic factors are still needed. CD74 plays an important role in signal transduction in B cell proliferation and survival pathway. CD74 expression has been shown in solid tumors and has been connected with poor prognosis a...

2002
Sarka Ruzickova Axel Pruss Marcus Odendahl Karsten Wolbart Gerd-Rüdiger Burmester Jürgen Scholze Thomas Dörner

Autoimmune phenomena may precede or accompany lymphoid malignancies, especially B-chronic lymphocytic leukemia (BCLL). We report a patient with a 7-year history of primary (idiopathic) cold agglutinin (CA) disease in whom B-CLL subsequently developed. Immunophenotyping and single-cell reverse transcription– polymerase chain reaction (RT-PCR) were applied to investigate the origin and diversific...

Journal: :Oncology 2012
Nitin Jain Susan O'Brien

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults in the United States, with more than 16,000 people expected to be diagnosed with CLL in 2012. Most patients with CLL do not require treatment at diagnosis. Various genetic/molecular markers to help with prognostication have been established and validated and are routinely used in clinical practice.[1] These include β2-micr...

Journal: :iranian journal of public health 0
yu-feng wen school of public health, wan nan medical college, wuhu, china. chao jiang school of public health, wan nan medical college, wuhu, china. xian-feng cheng school of public health, wan nan medical college, wuhu, china. zhi-ping zhang centre for disease prevention and control of anqing city, anqing, china. bai-feng chen school of public health, wan nan medical college, wuhu, china. yu zhu school of public health, wan nan medical college, wuhu, china.

the miru-vntr polymorphism and katg463 mutation are used to genotype the mycobacterium tuberculosis, but the correlation between them and inh-resistance were unknown. this study was aimed to explore whether etre polymorphism and katg463 mutation could predict the inh-resistance, and the relationship between etre polymorphism and katg463 mutation.the etre, katg463 mutation and drug resistance in...

Journal: :international journal of reproductive biomedicine 0
zohreh hojati somaye heidari majid motovali-bashi

background: about 10% of infertilities with obstructive azoospermia are congenital and caused by cf gene mutations. m469i mutation was observed for the first time in taiwanese patients. this mutation not only causes cf, but also may be the origin of infertility too. objective: in this study, we aimed in designing a rapid, reliable rflp-pcr procedure for detection of m469i mutation. the correlat...

آبسواران, ابوالفضل, اسماعیلی, محسن, جبارپور بنیادی, مرتضی, لطفلیزاده, نادر, یونس پور, رضا,

Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...

Journal: :iranian journal of public health 0
samaneh hajihoseini genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. majid motovali-bashi genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. mohammad amin honardoost molecular and cellular division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. nader alerasool genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran.

β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...

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