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American Journal of Human Genetics|December 11, 2002
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinomaSalud Borrego, Fred A Wright, Raquel M Fernández, et al.
American Journal of Human Genetics|December 11, 2002
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyHana Antonicka, Andre Mattman, Christopher G Carlson, et al.
American Journal of Human Genetics|December 11, 2002
A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprintingAri Karason, Johann E Gudjonsson, Ruchi Upmanyu, et al.
American Journal of Human Genetics|December 12, 2002
Significant linkage on chromosome 10p in families with bulimia nervosaCynthia M Bulik, B Devlin, Silviu-Alin Bacanu, et al.
American Journal of Human Genetics|January 21, 2003
Mutations in CHEK2 associated with prostate cancer riskXiangyang Dong, Liang Wang, Ken Taniguchi, et al.
American Journal of Human Genetics|October 11, 2002
Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifidaMarie-Therese Doolin, Sandrine Barbaux, Maeve McDonnell, et al.
American Journal of Human Genetics|September 26, 2002
Mutations in ANKH cause chondrocalcinosisAdrian Pendleton, Michelle D Johnson, Anne Hughes, et al.
American Journal of Human Genetics|September 26, 2002
On the twin risk in autismJoachim Hallmayer, Emma J Glasson, Carol Bower, et al.
American Journal of Human Genetics|October 3, 2002
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22qDonna S Mackay, Olivera B Boskovska, Harry L S Knopf, et al.
American Journal of Human Genetics|May 29, 2002
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytesJérôme Feldmann, Anne-Marie Prieur, Pierre Quartier, et al.
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