2013
DOI: 10.1002/ajhb.22441
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Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal

Abstract: Objectives There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology. We seek to understand the genetic underpinnings of, and relationship between, these skeletal anomalies. Methods The Jirel ethnic group of eastern Nepal participates in various genetic epidemiologic studies, including those in which hand-wrist radiographs have been taken to examine skeletal development. 2,130 individuals (969 males; 1,161 females) were p… Show more

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Cited by 6 publications
(3 citation statements)
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“…The Jirel population has been the focus of a broad range of anthropological and biomedical studies for more than three decades. These studies have included anthropological investigations ( 23 ), assessments of population structure ( 24 ), studies of genetic susceptibility to parasitic worm infection ( 25 ), and studies of the genetics of growth and development ( 26 ). Current research in the Jirel population is focused on the genetic epidemiology of ocular traits and disorders as part of the Jiri Eye Study (JES) ( 27 ).…”
Section: Methodsmentioning
confidence: 99%
“…The Jirel population has been the focus of a broad range of anthropological and biomedical studies for more than three decades. These studies have included anthropological investigations ( 23 ), assessments of population structure ( 24 ), studies of genetic susceptibility to parasitic worm infection ( 25 ), and studies of the genetics of growth and development ( 26 ). Current research in the Jirel population is focused on the genetic epidemiology of ocular traits and disorders as part of the Jiri Eye Study (JES) ( 27 ).…”
Section: Methodsmentioning
confidence: 99%
“…The Jirel Family Studies began in 1987 and focused on the Jirel population of eastern Nepal. Approximately 2,500 members of the Jirel population have participated in prior studies including anthropological investigations [16, 17], assessments of population structure [18, 19], genetic epidemiology studies of susceptibility to parasitic worm infections [20, 21], genetic studies of growth and development [22, 23], and investigations of the genetics of ocular disease [24]. The long running research conducted in the region has resulted in the collection of extensive genealogical information on the Jirel people.…”
Section: Methodsmentioning
confidence: 99%
“…The Jirels have been the focus of extensive genetic and epidemiological studies for over 25 years (e.g., Blangero, ; Relethford and Blangero, ; Williams‐Blangero, ,,, , , , ; Williams‐Blangero and Blangero, , Williams‐Blangero et al, ). All subjects in this study were participants in the Jiri Growth Study (Williams et al, , , , ), a genetic epidemiological study of growth and development. The Jiri Growth Study began in 2000, and from 2005 to 2012, objective physical activity assessment was collected.…”
Section: Methodsmentioning
confidence: 99%