about
Low levels of genetic divergence across geographically and linguistically diverse populations from IndiaThe gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patientsThe GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structureHaploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndromeAtypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansionGenomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysisHaploinsufficiency of PAX9 is associated with autosomal dominant hypodontiaPrevalence of common disease-associated variants in Asian Indians.Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachisMolecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patientsImpact of restricted marital practices on genetic variation in an endogamous Gujarati group.Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in IndiaGender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene.A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.Genetic basis of inherited peripheral neuropathies.Three polymorphisms at the D17S29 locus.Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies.Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells.Familial essential tremor in 4 kindreds. Prospects for genetic mapping.Detection of tandem duplications and implications for linkage analysis.Quest for the elusive genetic basis of Tourette syndromeWhither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A?A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.Reply to Boylan.Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 GeneClinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant OligodontiaEvidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1AFrataxin fracasCharcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unitDNA duplication associated with Charcot-Marie-Tooth disease type 1AMutational diversity at the human HPRT locusExpression of human and mouse HPRT minigenes
P50
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P50
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հետազոտող
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Pragna I Patel
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Pragna I Patel
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Pragna I Patel
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Pragna I Patel
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Pragna I Patel
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Pragna I Patel
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Pragna I Patel
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Pragna I Patel
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Pragna I Patel
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P1053
H-9129-2017
P106
P31
P496
0000-0003-3584-1072