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Search Results to Tamim H Shaikh

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Shaikh, Tamim

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

Item Type	Name
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	Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).
Academic Article	Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.
Academic Article	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Academic Article	Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
Academic Article	Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
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	A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.
Academic Article	Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.
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	Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
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	CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
Academic Article	Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.
Concept	Comparative Genomic Hybridization
Concept	Genomic Instability
Concept	Genomics
Concept	Genomic Structural Variation
Concept	Segmental Duplications, Genomic
Concept	Mosaicism
Grant	Next Generation Mapping of Complex Genomic Regions involved in Recurrent Structural Variations
Grant	Copy Number Alterations in Genomic Disorders
Grant	Evolution of Chromosome-specific Low Copy Repeats
Academic Article	Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
Academic Article	Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
Academic Article	Genome-wide copy number variations in a large cohort of bantu African children.
Academic Article	High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.

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Genomic
Mosaicism