Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal.

PubWeight™: 0.75‹?›

🔗 View Article (PMC 3968259)

Published in Am J Hum Biol on September 10, 2013

Authors

Kimberly D Williams1, John Blangero, Janardan Subedi, Bharat Jha, Thomas Dyer, John L Vandeberg, Bradford Towne, Sarah Williams-Blangero

Author Affiliations

1: Department of Anthropology, Temple University, Philadelphia, Pennsylvania; Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pennsylvania.

Articles cited by this

Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet (1998) 40.97

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet (1996) 17.95

Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet (1997) 10.86

Gaussian models for genetic linkage analysis using complete high-resolution maps of identity by descent. Am J Hum Genet (1993) 8.05

Allele frequency estimation from data on relatives. Am J Hum Genet (1991) 5.62

Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37

A variance component approach to dichotomous trait linkage analysis using a threshold model. Genet Epidemiol (1997) 3.33

Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. I. Likelihood formulation and simulation results. Am J Hum Genet (1999) 2.88

Epigenetic variation in the human cranium. J Anat (1967) 2.17

Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell (1993) 2.09

A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse. Development (1996) 1.60

Two FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos. Development (1993) 1.53

Genetic analysis of susceptibility to infection with Ascaris lumbricoides. Am J Trop Med Hyg (1999) 1.44

The physical characteristics and heredity of short thumbs. Acta Genet Stat Med (1957) 1.36

Function of posterior HoxD genes in the morphogenesis of the anal sphincter. Development (1996) 1.31

A GENETIC STUDY OF STUB THUMBS AMONG VARIOUS ETHNIC GROUPS IN ISRAEL. J Med Genet (1965) 1.30

Hox genes in digit development and evolution. Cell Tissue Res (1999) 1.29

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet (2003) 1.29

Genes on chromosomes 1 and 13 have significant effects on Ascaris infection. Proc Natl Acad Sci U S A (2002) 1.28

Detection of differential gene flow from patterns of quantitative variation. Hum Biol (1990) 1.25

Brachydactyly. Orphanet J Rare Dis (2008) 1.25

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet (1997) 1.12

Frequent genomic abnormalities at TWIST in human pediatric osteosarcomas. Int J Cancer (2005) 1.10

Localization of multiple quantitative trait loci influencing susceptibility to infection with Ascaris lumbricoides. J Infect Dis (2008) 1.02

Landscape genetics reveals focal transmission of a human macroparasite. PLoS Negl Trop Dis (2010) 1.01

Power of variance component linkage analysis-II. Discrete traits. Ann Hum Genet (2004) 0.98

Inheritance of brachydactyly type D. J Hered (1984) 0.97

Function of the Evx-2 gene in the morphogenesis of vertebrate limbs. EMBO J (1996) 0.96

Attitudes towards helminthic infection in the Jirel population of eastern Nepal. Soc Sci Med (1998) 0.94

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. BMC Med Genet (2012) 0.90

Linkage analysis of quantitative traits in randomly ascertained pedigrees: comparison of penetrance-based and variance component analysis. Genet Epidemiol (2001) 0.89

Two quantitative trait loci influence whipworm (Trichuris trichiura) infection in a Nepalese population. J Infect Dis (2008) 0.88

Host genetics and population structure effects on parasitic disease. Philos Trans R Soc Lond B Biol Sci (2012) 0.87

Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. Hypertension (2004) 0.87

Anthropometric variation and the genetic structure of the Jirels of Nepal. Hum Biol (1989) 0.85

Population structure of the Jirels: patterns of mate choice. Am J Phys Anthropol (1990) 0.84

Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. Hum Biol (2007) 0.84

Skin color variation in eastern Nepal. Am J Phys Anthropol (1991) 0.82

Genetic influences on plasma cytokine variation in a parasitized population. Hum Biol (2004) 0.81

Glypican 1 gene: good candidate for brachydactyly type E. Am J Med Genet (2002) 0.81

Population structure analysis using polygenic traits: estimation of migration matrices. Hum Biol (1990) 0.80

Clan-structured migration and phenotypic differentiation in the Jirels of Nepal. Hum Biol (1989) 0.80

Brachydactyly type A1 with short humerus and associated skeletal features. Am J Med Genet A (2010) 0.80

Phenotypic consequences of nonrandom migration in the Jirels of Nepal. Am J Phys Anthropol (1989) 0.79

Quantitative genetic analysis of skin reflectance: a multivariate approach. Hum Biol (1992) 0.78

Deletion of the TWIST gene in a large five-generation family. Clin Genet (2004) 0.77

Does brachydactyly have a protective effect on the erosive changes in rheumatoid arthritis? Joint Bone Spine (2011) 0.77

Effects of population structure on within-group variation in the Jirels of Nepal. Hum Biol (1990) 0.76

Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children. Am J Hum Biol (2011) 0.76

Clinical and molecular studies of brachydactyly type D. Am J Med Genet (1999) 0.76

Articles by these authors

Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet (2007) 11.09

Genetic Analysis Workshop 17 mini-exome simulation. BMC Proc (2011) 9.16

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37

Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73

Cortical thickness or grey matter volume? The importance of selecting the phenotype for imaging genetics studies. Neuroimage (2009) 3.66

A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet (2011) 3.02

Neurocognitive endophenotypes in a multiplex multigenerational family study of schizophrenia. Am J Psychiatry (2007) 2.84

Genetic and environmental factors influencing the human factor H plasma levels. Immunogenetics (2004) 2.43

Neuroimaging endophenotypes: strategies for finding genes influencing brain structure and function. Hum Brain Mapp (2007) 2.36

High dimensional endophenotype ranking in the search for major depression risk genes. Biol Psychiatry (2011) 2.23

Factors of insulin resistance syndrome--related phenotypes are linked to genetic locations on chromosomes 6 and 7 in nondiabetic mexican-americans. Diabetes (2002) 2.06

Genetic variation in selenoprotein S influences inflammatory response. Nat Genet (2005) 2.00

The quantitative trait linkage disequilibrium test: a more powerful alternative to the quantitative transmission disequilibrium test for use in the absence of population stratification. BMC Genet (2005) 1.98

Do changes in body mass index percentile reflect changes in body composition in children? Data from the Fels Longitudinal Study. Pediatrics (2006) 1.95

Estimating the additive genetic effect of the X chromosome. Genet Epidemiol (2005) 1.95

Genetic variation at the FTO locus influences RBL2 gene expression. Diabetes (2009) 1.91

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging Behav (2014) 1.90

Heritability of age at menarche in girls from the Fels Longitudinal Study. Am J Phys Anthropol (2005) 1.81

Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project. Thromb Haemost (2003) 1.80

Visceral adiposity and its anatomical distribution as predictors of the metabolic syndrome and cardiometabolic risk factor levels. Am J Clin Nutr (2008) 1.80

Multi-site genetic analysis of diffusion images and voxelwise heritability analysis: a pilot project of the ENIGMA-DTI working group. Neuroimage (2013) 1.78

A changing pattern of childhood BMI growth during the 20th century: 70 y of data from the Fels Longitudinal Study. Am J Clin Nutr (2012) 1.76

Genome-wide linkage analyses of type 2 diabetes in Mexican Americans: the San Antonio Family Diabetes/Gallbladder Study. Diabetes (2005) 1.72

Chemerin is associated with metabolic syndrome phenotypes in a Mexican-American population. J Clin Endocrinol Metab (2009) 1.72

Anatomical patterning of visceral adipose tissue: race, sex, and age variation. Obesity (Silver Spring) (2007) 1.66

Long-term changes in adiposity and glycemic control are associated with past adenovirus infection. Diabetes Care (2012) 1.63

Amygdalar and hippocampal substrates of anxious temperament differ in their heritability. Nature (2010) 1.63

On the genetic architecture of cortical folding and brain volume in primates. Neuroimage (2010) 1.62

A genomewide search finds major susceptibility loci for gallbladder disease on chromosome 1 in Mexican Americans. Am J Hum Genet (2006) 1.59

Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res (2012) 1.58

Approximation of total visceral adipose tissue with a single magnetic resonance image. Am J Clin Nutr (2007) 1.55

A single nucleotide polymorphism in MGEA5 encoding O-GlcNAc-selective N-acetyl-beta-D glucosaminidase is associated with type 2 diabetes in Mexican Americans. Diabetes (2005) 1.52

Plasma lipidomic profile signature of hypertension in Mexican American families: specific role of diacylglycerols. Hypertension (2013) 1.51

Fifty-year trends in serial body mass index during adolescence in girls: the Fels Longitudinal Study. Am J Clin Nutr (2004) 1.51

Adjudicating neurocognitive endophenotypes for schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2007) 1.48

A quantitative trait locus influencing free plasma protein S levels on human chromosome 1q: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project. Arterioscler Thromb Vasc Biol (2003) 1.48

Heritability of brain volume, surface area and shape: an MRI study in an extended pedigree of baboons. Hum Brain Mapp (2007) 1.47

A genome search for genetic determinants that influence plasma fibrinogen levels. Arterioscler Thromb Vasc Biol (2005) 1.47

Quantitative trait nucleotide analysis using Bayesian model selection. 2005. Hum Biol (2009) 1.46

The development of sex differences in digital formula from infancy in the Fels Longitudinal Study. Proc Biol Sci (2005) 1.45

Variance component methods for analysis of complex phenotypes. Cold Spring Harb Protoc (2010) 1.44

The F7 gene and clotting factor VII levels: dissection of a human quantitative trait locus. 2005. Hum Biol (2009) 1.43

A genetic and epidemiologic study of cardiovascular disease in Alaska natives (GOCADAN): design and methods. Int J Circumpolar Health (2005) 1.43

The functional connectivity of the human caudate: an application of meta-analytic connectivity modeling with behavioral filtering. Neuroimage (2011) 1.41

Puberty and body composition. Horm Res (2003) 1.39

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet (2013) 1.39

Plasma lipid profiling in a large population-based cohort. J Lipid Res (2013) 1.35

The baboon as a nonhuman primate model for the study of the genetics of obesity. Obes Res (2003) 1.34

Meta-analysis of genome-wide linkage studies in BMI and obesity. Obesity (Silver Spring) (2007) 1.32

SORCS1: a novel human type 2 diabetes susceptibility gene suggested by the mouse. Diabetes (2007) 1.30

Genes on chromosomes 1 and 13 have significant effects on Ascaris infection. Proc Natl Acad Sci U S A (2002) 1.28

Measuring and comparing brain cortical surface area and other areal quantities. Neuroimage (2012) 1.27

Quantitative trait loci on chromosomes 2p, 4p, and 13q influence bone mineral density of the forearm and hip in Mexican Americans. J Bone Miner Res (2003) 1.25

Genome scan for determinants of serum uric acid variability. J Am Soc Nephrol (2007) 1.25

Haplotypes of transcription factor 7-like 2 (TCF7L2) gene and its upstream region are associated with type 2 diabetes and age of onset in Mexican Americans. Diabetes (2007) 1.25

Recent decline in age at menarche: the Fels Longitudinal Study. Am J Hum Biol (2004) 1.25

Plasma lipid profiling shows similar associations with prediabetes and type 2 diabetes. PLoS One (2013) 1.24

The case for strategic international alliances to harness nutritional genomics for public and personal health. Br J Nutr (2005) 1.24

Disentangling hybridization and host colonization in parasitic roundworms of humans and pigs. Proc Biol Sci (2007) 1.24

Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume. Stroke (2009) 1.24

A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease. Am J Hum Genet (2002) 1.23

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. Hum Mol Genet (2013) 1.23

A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood (2007) 1.22

Transcriptomic epidemiology of smoking: the effect of smoking on gene expression in lymphocytes. BMC Med Genomics (2010) 1.22

Testing the hypothesis of accelerated cerebral white matter aging in schizophrenia and major depression. Biol Psychiatry (2012) 1.21

Linkage analysis without defined pedigrees. Genet Epidemiol (2011) 1.20

The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. Hum Genet (2009) 1.20

Chemerin, a novel adipokine in the regulation of angiogenesis. J Clin Endocrinol Metab (2010) 1.20

The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness. Invest Ophthalmol Vis Sci (2010) 1.18

Arterial endothelial dysfunction in baboons fed a high-cholesterol, high-fat diet. Am J Clin Nutr (2005) 1.16

Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins. BMC Evol Biol (2011) 1.16

Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women. J Bone Miner Res (2013) 1.16

A genomewide exploration suggests a new candidate gene at chromosome 11q23 as the major determinant of plasma homocysteine levels: results from the GAIT project. Am J Hum Genet (2005) 1.15

A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). PLoS Genet (2013) 1.15

A second-generation genetic linkage map of the baboon (Papio hamadryas) genome. Genomics (2006) 1.15

Linkage of high-density lipoprotein-cholesterol concentrations to a locus on chromosome 9p in Mexican Americans. Nat Genet (2001) 1.14

A multimodal assessment of the genetic control over working memory. J Neurosci (2010) 1.14

A transcriptional profile of the decidua in preeclampsia. Am J Obstet Gynecol (2011) 1.14

Genetics of variation in serum uric acid and cardiovascular risk factors in Mexican Americans. J Clin Endocrinol Metab (2008) 1.13

Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree. Invest Ophthalmol Vis Sci (2005) 1.13

Genetic factors in physical growth and development and their relationship to subsequent health outcomes. Am J Hum Biol (2007) 1.13

Rapid postnatal weight gain and visceral adiposity in adulthood: the Fels Longitudinal Study. Obesity (Silver Spring) (2009) 1.12

Genetic basis of neurocognitive decline and reduced white-matter integrity in normal human brain aging. Proc Natl Acad Sci U S A (2013) 1.11

Phenotypical characterisation of the isolated norfolk island population focusing on epidemiological indicators of cardiovascular disease. Hum Hered (2006) 1.11

Genotype by diabetes interaction effects on the detection of linkage of glomerular filtration rate to a region on chromosome 2q in Mexican Americans. Diabetes (2007) 1.11

Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data. BMC Proc (2009) 1.11

Whole brain and regional hyperintense white matter volume and blood pressure: overlap of genetic loci produced by bivariate, whole-genome linkage analyses. Stroke (2010) 1.09

Genetic analysis of cortical thickness and fractional anisotropy of water diffusion in the brain. Front Neurosci (2011) 1.09

Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study). Eur J Hum Genet (2008) 1.08

Genetic and environmental influences on thyroid hormone variation in Mexican Americans. J Clin Endocrinol Metab (2004) 1.08

Strategy and model building in the fourth dimension: a null model for genotype x age interaction as a Gaussian stationary stochastic process. BMC Genet (2003) 1.08

A genome-wide search for linkage to chronic kidney disease in a community-based sample: the SAFHS. Nephrol Dial Transplant (2008) 1.08

Arguments for the sake of endophenotypes: examining common misconceptions about the use of endophenotypes in psychiatric genetics. Am J Med Genet B Neuropsychiatr Genet (2014) 1.08

Genetic basis of variation in carotid artery plaque in the San Antonio Family Heart Study. Stroke (2002) 1.07

Blood pressure and cerebral white matter share common genetic factors in Mexican Americans. Hypertension (2010) 1.07