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Slim R, Mehio A. The genetics of hydatidiform moles: new lights on an ancient disease.Clin Genet 2007: 71: 25–34. © Blackwell Munksgaard, 2007Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in...
Oti M, Brunner HG. The modular nature of genetic diseases.Clin Genet 2007: 71: 1–11. © Blackwell Munksgaard, 2007Evidence from many sources suggests that similar phenotypes are begotten by functionally related genes. This is most obvious in the case of genetically heterogeneous diseases such...
HRAS mutations in Costello syndromeEstep et al. (2006)American Journal of Medical Genetics 10-A: 8–16Germline KRAS mutations cause Noonan syndromeSchubbert et al. (2006)Nature Genetics 38: 331–335
Di Pierro E, Brancaleoni V, Moriondo V, Besana V, Cappellini MD. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.Clin Genet 2007: 71: 84–88. © Blackwell Munksgaard, 2007Erythropoietic protoporphyria (EPP) is an...
Laberge L, Veillette S, Mathieu J, Auclair J, Perron M. The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy.Clin Genet 2007: 71: 59–66. © Blackwell Munksgaard, 2007Socioeconomic deprivation has long been recognized as a prominent feature of myotonic...
Germline mutations in HRAS proto-oncogene cause Costello syndromeAoki et al. (2005)Nature Genetics 37: 1038–1040HRAS mutations in Costello syndromeEstep et al. (2006)American Journal of Medical Genetics 10-A: 8–16Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeNiihori et...
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