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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	Sequence diversity and chromosomal distribution of "young" Alu repeats.
Academic Article	Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats.
Academic Article	African origin of human-specific polymorphic Alu insertions.
Academic Article	The role and amplification of the HS Alu subfamily founder gene.
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 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
Academic Article	Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).
Academic Article	Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint.
Academic Article	Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).
Academic Article	cDNAs derived from primary and small cytoplasmic Alu (scAlu) transcripts.
Academic Article	A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.
Academic Article	Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.
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	Detailed analysis of 22q11.2 with a high density MLPA probe set.
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	Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
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	Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
Academic Article	A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
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	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Academic Article	A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
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	Rare structural variation of synapse and neurotransmission genes in autism.
Academic Article	Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies.
Academic Article	Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
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	Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
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	Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development.
Academic Article	Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
Academic Article	Cis-acting influences on Alu RNA levels.
Academic Article	Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.
Academic Article	Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
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	Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.
Academic Article	High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Academic Article	Structure and variability of recently inserted Alu family members.
Academic Article	High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.
Academic Article	Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
Academic Article	Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.
Academic Article	Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
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	Microduplications of 16p11.2 are associated with schizophrenia.
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.
Academic Article	Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
Academic Article	Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Concept	Humans
Concept	Chromosomes, Human, Pair 18
Concept	Chromosomes, Human, Pair 15
Concept	Chromosomes, Human, Pair 16
Concept	Chromosomes, Human, Pair 17
Concept	Chromosomes, Human, Pair 11
Concept	Chromosomes, Human, 21-22 and Y
Concept	Chromosomes, Human, Pair 1
Concept	Genome, Human
Concept	Chromosomes, Human, Pair 3
Concept	Chromosomes, Human, Pair 20
Concept	Chromosomes, Human, Pair 4
Concept	Chromosomes, Human, Pair 21
Concept	Chromosomes, Human, Pair 8
Concept	Chromosomes, Human, Pair 10
Concept	Chromosomes, Human, Pair 7
Concept	Chromosomes, Human, Pair 6
Concept	Chromosomes, Human, Pair 13
Concept	Chromosomes, Human, Pair 22
Academic Article	An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Academic Article	Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
Academic Article	Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Academic Article	An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Academic Article	Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Academic Article	Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Academic Article	Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Academic Article	Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Academic Article	The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?
Academic Article	X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
Grant	Next Generation Mapping of Complex Genomic Regions involved in Recurrent Structural Variations
Grant	Copy Number Alterations in Genomic Disorders
Grant	Genomewide Copy Number Variation Analysis and Association with Facial Shape Variation
Grant	Evolution of Chromosome-specific Low Copy Repeats
Academic Article	Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Academic Article	Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
Academic Article	The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Academic Article	Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish.
Academic Article	Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
Academic Article	22q11.2 Low Copy Repeats Expanded in the Human Lineage.
Academic Article	Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
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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Humans