نتایج جستجو برای: microdeletion
تعداد نتایج: 1516 فیلتر نتایج به سال:
In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the ...
BACKGROUND Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new tech...
The proximal 15q11-q13 region contains 5 breakpoints (BP1-BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays,...
background: the aim of this study was to determine the incidence of azf (azoospermia factor) microdeletions of the y chromosome in infertile turkish male patients and intracytoplasmic sperm injection (icsi) outcome of these patients. objective: this study was undertaken in order to evaluate the outcome of intracytoplasmic sperm injection (icsi) in infertil man with azf microdeletions materials ...
Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries. Here we report a sensitive, rapid, and affordable detection method that we have called Microdeletion/Microduplication Quantitative Fluorescent PCR (MQF-PCR). Our procedure is based on the finding of genomic regions with ...
Objective microdeletions of Yq chromosome are the most frequent molecular genetics etiology for the male infertility which usually spans AZFa (azoo spermia factor a), AZFb and AZFc regions. Microdeletions are mostly seen in AZFc region and usually cover genes actively involved in spermatogenesis. Partial AZFc microdeletion may also happen with various spans namely gr/gr, b2/b3 and b1/b3. It is ...
BACKGROUND Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits and complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a microdeletion in an affected sibling pair. METHODS The DOCK4 microdeletion on 7q31.1 was further characterized in this family using QuantiSNP a...
Specific genetic marker based molecular study of the azfa & azfd region microdeletion in infertile cases of northeast india. a b c d e Introduction: The first cases of Y chromosome microdeletions and male infertility were reported in 1992 and many case series have subsequently been reported from various parts of the world. A very few studies have been done involving the patients of NorthEast In...
Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping...
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