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Search Results to Tamim H Shaikh

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One or more keywords matched the following items that are connected to Shaikh, Tamim

Item TypeName
Academic Article Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3.
Academic Article A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.
Academic Article Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
Academic Article Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Academic Article Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene.
Academic Article SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
Academic Article Copy number variation at 1q21.1 associated with neuroblastoma.
Academic Article A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.
Academic Article Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Academic Article The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.
Academic Article A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).
Academic Article A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.
Academic Article Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
Academic Article The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Academic Article High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.
Academic Article A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
Academic Article Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.
Academic Article Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Academic Article Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.
Academic Article Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Concept In Situ Hybridization, Fluorescence
Academic Article The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

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  • In Situ Hybridization

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