Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX - Test2 - elhamkhani - TriplyDB

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

http://www.wikidata.org/entity/Q28207843

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Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.Genome amplification of single sperm using multiple displacement amplification htSNPer1.0: software for haplotype block partition and htSNPs selection.An exploration of sex-specific linkage disequilibrium on chromosome X in Caucasians from the COGA study.Association of poly-purine/poly-pyrimidine sequences with meiotic recombination hot spots Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates.Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved.Assessing the performance of the haplotype block model of linkage disequilibrium Recombination in the human Pseudoautosomal region PAR1.Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Intense and highly localized gene conversion activity in human meiotic crossover hot spots.Contrasting methods of quantifying fine structure of human recombination.Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis.Recombination has little effect on the rate of sequence divergence in pseudoautosomal boundary 1 among humans and great apes.Meiotic recombination hot spots and human DNA diversity.Mammalian recombination hot spots: properties, control and evolution.Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.Where the crossovers are: recombination distributions in mammals.Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency A quantitative assay for crossover and noncrossover molecular events at individual recombination hotspots in both male and female gametes.The human pseudoautosomal regions: a review for genetic epidemiologists.A Track Record on SHOX: From Basic Research to Complex Models and Therapy Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.RAD sequencing resolves fine-scale population structure in a benthic invertebrate: implications for understanding phenotypic plasticity.Calibrating a coalescent simulation of human genome sequence variation.DNA enrichment by allele-specific hybridization (DEASH): a novel method for haplotyping and for detecting low-frequency base substitutional variants and recombinant DNA molecules.Insights into recombination from patterns of linkage disequilibrium in humans Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients.Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene.Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.Role of RAD51C and XRCC3 in genetic recombination and DNA repair.Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.The impact of recombination on human mutation load and disease.Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot.Human recombination hot spots hidden in regions of strong marker association

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Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

http://www.wikidata.org/entity/Q28207843

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2002 nî lūn-bûn

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2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Nature Genetics

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Crossover clustering and rapid ...... p/Yp pseudoautosomal gene SHOX

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Alec J Jeffreys

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Angela C Shone

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Antti Sajantila

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Luba Kalaydjieva

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P2860

Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping.

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

Mathematical model for studying genetic variation in terms of restriction endonucleases

Characterization of single-nucleotide polymorphisms in coding regions of human genes

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex

Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region

On the number of segregating sites in genetical models without recombination

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Linkage disequilibrium in humans: models and data.

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10.1038/NG918

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3

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31

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12089524

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