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Population genetics--making sense out of sequence.
Chakravarti A. Chakravarti A. Nat Genet. 1999 Jan;21(1 Suppl):56-60. doi: 10.1038/4482. Nat Genet. 1999. PMID: 9915503 Review.
The complete human genome nucleotide sequence and technologies for assessing sequence variation on a genome-scale will prompt comprehensive studies of comparative genomic diversity in human populations across the globe. ...
The complete human genome nucleotide sequence and technologies for assessing sequence variation on a genome-scale will prompt compreh …
Association study of schizophrenia and the IL-2 receptor beta chain gene.
Nimgaonkar VL, Yang ZW, Zhang XR, Brar JS, Chakravarti A, Ganguli R. Nimgaonkar VL, et al. Am J Med Genet. 1995 Oct 9;60(5):448-51. doi: 10.1002/ajmg.1320600517. Am J Med Genet. 1995. PMID: 8546160
A case-control association study was conducted in Caucasian patients with schizophrenia (DSM-III-R, n = 42) and unaffected controls (n = 47) matched for ethnicity and area of residence. Serum interleukin-2 receptor (IL-2R) concentrations, as well as a dinucleotide r
A case-control association study was conducted in Caucasian patients with schizophrenia (DSM-III-R, n = 42) and unaffected controls (
Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation.
Scott JA, Wenger SL, Steele MW, Chakravarti A. Scott JA, et al. Am J Med Genet. 1995 Mar 13;56(1):67-71. doi: 10.1002/ajmg.1320560115. Am J Med Genet. 1995. PMID: 7747789
A 9-year-old, mildly mentally retarded girl presented with phenotypic manifestations of Down syndrome. G-banded chromosomal analyses of peripheral blood lymphocytes from the patient and her parents, and skin fibroblasts from the patient, did not detect any abnormality. Mol
A 9-year-old, mildly mentally retarded girl presented with phenotypic manifestations of Down syndrome. G-banded chromosomal analyses
Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene.
Badner JA, Chakravarti A. Badner JA, et al. Am J Med Genet. 1990 Jan;35(1):100-4. doi: 10.1002/ajmg.1320350119. Am J Med Genet. 1990. PMID: 2301458
However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, is more plausible. A model of gene action incorporating stochastic effects is compatible with these observations....
However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, …
Genetic epidemiology of rheumatoid arthritis.
Lynn AH, Kwoh CK, Venglish CM, Aston CE, Chakravarti A. Lynn AH, et al. Am J Hum Genet. 1995 Jul;57(1):150-9. Am J Hum Genet. 1995. PMID: 7611283 Free PMC article.
A highly penetrant recessive major gene, with a mutant allele frequency of .005, was identified as the most parsimonious genetic risk factor. ...For future genetic analyses, families with an excess of affected males having a young age at onset may be the most
A highly penetrant recessive major gene, with a mutant allele frequency of .005, was identified as the most parsimonious genet
DNA profile similarity in a subdivided population.
Li CC, Chakravarti A. Li CC, et al. Hum Hered. 1994 Mar-Apr;44(2):100-9. doi: 10.1159/000154199. Hum Hered. 1994. PMID: 8188309
There is considerable debate regarding the effect of population subdivision (heterogeneity) on the probability of a chance or coincidental match between two DNA samples studied with respect to multiple, polymorphic genetic markers. ...Our results demonstrate that the avera …
There is considerable debate regarding the effect of population subdivision (heterogeneity) on the probability of a chance or coincid …
A maximum likelihood method for estimating genome length using genetic linkage data.
Chakravarti A, Lasher LK, Reefer JE. Chakravarti A, et al. Genetics. 1991 May;128(1):175-82. Genetics. 1991. PMID: 2060775 Free PMC article.
The genetic length of a genome, in units of Morgans or centimorgans, is a fundamental characteristic of an organism. We propose a maximum likelihood method for estimating this quantity from counts of recombinants and nonrecombinants between marker locus pairs …
The genetic length of a genome, in units of Morgans or centimorgans, is a fundamental characteristic of an organism. We propos …
Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene-centromere mapping of chromosome I markers.
Deka R, Chakravarti A, Surti U, Hauselman E, Reefer J, Majumder PP, Ferrell RE. Deka R, et al. Am J Hum Genet. 1990 Oct;47(4):644-55. Am J Hum Genet. 1990. PMID: 1977308 Free PMC article.
Eight polymorphic marker loci on chromosome 1p and one marker on 1q were used to estimate a gene-centromere map. The results show clear linkage of the most proximal 1p marker (NRAS) and the most proximal 1q marker (D1S61) to the centromere at a distance of 14 cM and …
Eight polymorphic marker loci on chromosome 1p and one marker on 1q were used to estimate a gene-centromere map. The results show cle …
Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.
Matise TC, Perlin M, Chakravarti A. Matise TC, et al. Nat Genet. 1994 Apr;6(4):384-90. doi: 10.1038/ng0494-384. Nat Genet. 1994. PMID: 8054979
MultiMap is based on a novel map construction algorithm and allows investigator control of marker locus characteristics, such as informativeness, scorability or distance to nearest neighbours. We used MultiMap to construct a human genetic map at an average resolutio …
MultiMap is based on a novel map construction algorithm and allows investigator control of marker locus characteristics, such as info …
Information content of the Centre d'Etude du Polymorphisme Humain (CEPH) family structures for linkage studies.
Chakravarti A. Chakravarti A. Hum Genet. 1991 Oct;87(6):721-4. doi: 10.1007/BF00201732. Hum Genet. 1991. PMID: 1937475
This paper derives theoretical values for joint polymorphism information content for two markers from a family structure consisting of four grandparents, two parents, and many offspring. ...
This paper derives theoretical values for joint polymorphism information content for two markers from a family structure consisting o …
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