نتایج جستجو برای: yq deletions
تعداد نتایج: 19460 فیلتر نتایج به سال:
Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. To more firmly establish the full ph...
The pneumococcal recombinant plasmid pLS70, which contains two strong promoters for transcription of the malM and malX genes, is unstable when transferred to Bacillus subtilis, and it gives rise to deleted derivatives. Analysis of proteins produced by the deleted plasmids and restriction mapping of 29 different deletions showed that stabilization in B. subtilis was accompanied by deletions affe...
Individuals with the 18q- syndrome have variable deletions from the long arm of chromosome 18. They also exhibit a highly variable phenotype. To correlate genotype with phenotype accurately, extensive molecular and phenotypic analyses are needed on each affected individual. As a part of this analysis, we have determined the parental origin of the deleted chromosome in 34 individuals with the 18...
INTRODUCTION Central Asian Strain 1 (CAS1) is the predominant Mycobacterium tuberculosis genotype in Pakistan. The occurrence of deletions in regions of differences (RDs) among CAS1 and other predominant genogroups in the country were investigated. METHODOLOGY Using stratified random sampling, 235 M. tuberculosis (185 pulmonary; 50 extrapulmonary) strains were selected from 926 previously spo...
Microdeletions at exon 19 are the most frequent genetic alterations affecting the Epidermal Growth Factor Receptor (EGFR) gene in non-small cell lung cancer (NSCLC) and they are strongly associated with response to treatment with tyrosine kinase inhibitors. A series of 116 NSCLC DNA samples investigated by Sanger Sequencing (SS), including 106 samples carrying exon 19 EGFR deletions and 10 with...
Let σ be a permutation on [n] = {1, 2, . . . , n} which can be written in two-line notation, and let φ : [n] → S be a bijection. Construct τ (resp. β) by replacing the elements in σ as dictated by φ and then deleting up to d elements in the top (resp. bottom) line and contracting the result, making sure no symbol is deleted in both lines. The permutation σ is d-resilient if τ and β always uniqu...
In the classical union nd problem we maintain a partition of a universe of n elements into disjoint sets subject to the operations union and nd The operation union A B C replaces sets A and B in the partition by their union given the name C The operation find x returns the name of the set containing the element x In this paper we revisit the union nd problem in a context where the underlying pa...
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23...
Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are clinically and genetically heterogeneous disorders caused by a deficiency of gonadotrophin-releasing hormone (GnRH). Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS. Nearly all mutations are point mutations identified by traditional PCR-based DNA sequencing. The relatively n...
The cover image is based on the Original Article Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements patients from 71 families by W. Marston Linehan et al., https://doi.org/10.1002/humu.24194.
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